IAP Color Atlas of Pediatrics PDF

IAP
Color Atlas of
PEDIATRICS
A Publication of Indian Academy of Pediatrics

IAP
Color Atlas of
PEDIATRICS
Editor-in-Chief
A Parthasarathy
Distinguished Professor
The Tamil Nadu Dr MGR Medical University
Retd Senior Clinical Professor of Pediatrics
Madras Medical College
Deputy Superintendent
Institute of Child Health and Hospital for Children
Chennai, Tamil Nadu, India
Chief Academic Editor Executive Editors Deepak Ugra

Rohit Agrawal Piyush Gupta Consultant Pediatrician
Director and Consultant Pediatrician Professor of Pediatrics Lilavati Hospital, Mumbai, Maharashtra, India
Chandrajyoti Children Hospital, Mumbai University College of Medical Sciences
Tanmay Amladi
Visiting Consultant, Kohinoor Hospital New Delhi, India
Honorary Head
Mumbai, Maharashtra, India
Department of Neonatology
Ritabrata Kundu Wadia Hospital
Academic Editors Professor of Pediatrics
Nitin K Shah Institute of Child Health
Consultant Pediatrician Kolkata, West Bengal, India Sailesh Gupta
PD Hinduja Hospital for Children Consultant Pediatrician
Honorary Hemato-Oncologist Digant Shastri Arushree Childcare Hospital
BJ Wadia Hospital and Lion’s Hospital CEO and Chief Pediatrician Malad, Mumbai, Maharashtra, India
Mumbai, Maharashtra, India Killol Children Hospital and NICU
Majuragate, Surat, Publication Editor
Vijay N Yewale Maharashtra, India
Director and Consultant Pediatrician Dhanya Dharmapalan
Dr Yewale’s Multispecialty Hospital for Children Consultant Pediatrician
Ex-Officio Editors
Sector 9, Vashi, Maharashtra, India Dr Yewale’s Multispecialty Hospital for Children
Honorary Pediatric Consultant TU Sukumaran Navi Mumbai, Maharashtra, India
Mathadi Trust Hospital, Navi Mumbai Professor of Pediatrics Dharmapalan’s Clinic
Maharashtra, India PIMS, Thiruvalla, Kerala, India Tilak Nagar, Mumbai, Maharashtra, India
Forewords
Rohit Agrawal
TU Sukumaran
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IAP Color Atlas of Pediatrics (A Publication of Indian Academy of Pediatrics)
First Edition: 2012

ISBN 978-93-5025-710-4
Printed at
Dedicated to
The Parents of the suffering Tiny Tots who successfully protected them from the clutches
of malnutrition and vaccine preventable diseases but could not succeed in protecting them
from congenital malformations, metabolic, endocrine and genetic disorders
Contributors
Editor-in-Chief Ex-Officio Editors
A Parthasarathy TU Sukumaran
Distinguished Professor Professor of Pediatrics
The Tamil Nadu Dr MGR Medical University PIMS, Thiruvalla, Kerala, India
Retd Senior Clinical Professor of Pediatrics
Madras Medical College Deepak Ugra
Deputy Superintendent Consultant Pediatrician
Institute of Child Health and Hospital for Children Lilavati Hospital
Chennai, Tamil Nadu, India Mumbai, Maharashtra, India
Chief Academic Editor Tanmay Amladi
Rohit Agrawal Honorary Head
Director and Consultant Pediatrician Department of Neonatology
Chandrajyoti Children Hospital Wadia Hospital
Visiting Consultant, Kohinoor Hospital Mumbai, Maharashtra, India
Academic Editors Sailesh Gupta
Nitin K Shah Consultant Pediatrician
Consultant Pediatrician Arushree Childcare Hospital
PD Hinduja Hospital for Children Malad, Mumbai, Maharashtra, India
Honorary Hemato-Oncologist
BJ Wadia Hospital and Lion’s Hospital Publication Editor
Mumbai, Maharashtra, India Dhanya Dharmapalan
Consultant Pediatrician
Vijay N Yewale Dr Yewale’s Multispecialty Hospital for Children
Director and Consultant Pediatrician Navi Mumbai, Maharashtra, India
Dr Yewale’s Multispecialty Hospital for Children Dharmapalan’s Clinic
Sector 9, Vashi, Navi Mumbai, Maharashtra, India Tilak Nagar, Mumbai, Maharashtra, India
Honorary Pediatric Consultant
Mathadi Trust Hospital, Navi Mumbai
Maharashtra, India SECTION 1: NEONATOLOGY
Executive Editors
Piyush Gupta Editors
Professor of Pediatrics Rhishikesh Thakre
University College of Medical Sciences Professor
New Delhi, India Department of Pediatrics
MGM Medical College and Hospital
Ritabrata Kundu N5 Cidco, Aurangabad, Maharashtra, India
Professor of Pediatrics
rhishikesht@gmail.com
Institute of Child Health
Kolkata, West Bengal, India
Ruchi Nanavati
Digant Shastri Professor and Head
CEO and Chief Pediatrician Department of Neonatology
Killol Children Hospital and NICU Seth GS Medical College and KEM Hospital
Majuragate, Surat Mumbai, Maharashtra, India
Maharashtra, India drruchinanavati@gmail.com
SECTION 2: GROWTH AND DEVELOPMENT Government Medical College
Thiruvananthapuram, Kerala, India
Editors drpamkunju@gmail.com
KN Agarwal
President Anoop Verma
Health Care and Research Association for Adolescents Consulting Pediatrician
D-115, Sector-36, Noida, Uttar Pradesh, India Swapnil Nursing Home and Research Center
adolcare@hotmail.com Civil Lines, Raipur, Chhattisgarh, India
anoopve@yahoo.com
MKC Nair
Director
Child Development Center SECTION 6: CARDIOLOGY
Medical College Campus
Thiruvananthapuram, Kerala, India Editor
cdcmkc@gmail.com M Zulfikar Ahamed
Professor and Head
Department of Pediatric Cardiology
SECTION 3: NUTRITION Government Medical College
Thiruvananthapuram, Kerala, India
IAP Color Atlas of Pediatrics
Editor zulfikarahamed@gmail.com
Meenakshi Mehta
Head of Department
Consultant Pediatrician SECTION 7: PULMONOLOGY
MGM Hospital, Parel
Mumbai, Maharashtra, India Editors
meenakshinmehta2011@gmail.com TU Sukumaran
dr_meenakshi37@rediffmail.com Professor of Pediatrics
PIMS, Thiruvalla, Kerala, India
tusukumaran@gmail.com
SECTION 4: INFECTIOUS DISEASES
Devaraj Raichur
Editors Professor of Pediatrics
Jaydeep Choudhury Karnataka Institute of Medical Sciences
Associate Professor Hubli, Karnataka, India
Institute of Child Health drdevaraj@rediffmail.com
Dr Biresh Guha Street
Kolkata, West Bengal, India
drjaydeep_choudhury@yahoo.co.in SECTION 8: GASTROINTESTINAL SYSTEM
AND HEPATOLOGY
Nupur Ganguly
Associate Professor Editors
Institute of Child Health Malathi Sathiyasekaran
Dr Biresh Guha Street Consultant Pediatric Gastroenterologist
Kolkata, West Bengal, India KKCTH, SMF and Apollo Hospitals
nupur_diya@yahoo.com Chennai, Tamil Nadu, India
mal.bwcs@gmail.com
SECTION 5: NEUROLOGY A Riyaz

Pediatric Gastroenterologist
Editors Professor and Head of Pediatrics
PAM Kunju Government Medical College
viii Professor and Head Calicut, Kerala, India
Department of Pediatric Neurology riyazped@gmail.com
SECTION 9: NEPHROLOGY SECTION 12: ENDOCRINOLOGY
Editors
Editor
Vaman Khadilkar
Pankaj Deshpande
Pediatric and Adolescent Endocrinologist
Consultant Pediatric Nephrologist
Jehangir Hospital, Pune, Maharashtra, India
Hinduja Hospital, Mahim
Bombay Hospital
Veer Savarkar Marg
Dr Yewale’s Hospital, Sector-9, Vashi
Head
Navi Mumbai, Maharashtra, India Division of Pediatric Endocrinology
ajinkyapl@hotmail.com Bharati Vidyapeeth Medical College, Pune
vamankhadilkar@gmail.com
SECTION 10: HEMATOLOGY
PSN Menon
Editors Consultant and Head
MR Lokeshwar Department of Pediatrics
Consultant Pediatrician and Pediatric Hematologist Jaber Al-Ahmed Armed Forces Hospital
of Lilavati Hospital and Research Center PO Box No 5819, Salmiya 22069, Kuwait
Bandra(W), Mumbai, Maharashtra, India psnmenon@hotmail.com
Shushrusha Citizen’s Cooperative Hospital psnmenon@yahoo.com
Dadar, Mumbai, Maharashtra, India
mrlokeshwar@gmail.com SECTION 13: GENETICS
Contributors
Bharat Agarwal Editors
Head Shubha R Phadke
Department of Pediatric Hematology and Oncology Professor
BJ Wadia Hospital for Children, Parel Department of Medical Genetics
Mumbai, Maharashtra, India Sanjay Gandhi Postgraduate Institute of Medical Sciences
parulbrat@gmail.com Lucknow, Uttar Pradesh, India
shubharaophadke@gmail.com
ML Kulkarni
SECTION 11: ONCOLOGY Head
Department of Pediatrics
Editors JJM Medical College
Purna Kurkure Davangere, Karnataka, India
Professor and Incharge Pediatric Oncology kulkarniml@yahoo.com
Convenor, Pediatric Solid Tumor Group
Tata Memorial Hospital, Parel
Mumbai, Maharashtra, India SECTION 14: ALLERGY, RHEUMATOLOGY
purna.kurkure@gmail.com Editor for Allergy
Major K Nagaraju
Anupama S Borker Senior Consultant in Pediatric Allergy
Associate Professor and Clinical Immunology
Department of Pediatrics Kanchi Kamakoti Child Trust Hospital
Kasturba Medical College, Manipal University Nungambakkam, Chennai
Manipal, Karnataka, India Tamil Nadu, India
anupama.sb@manipal.edu majorknr@gmail.com
dranupamasb@gmail.com majorknr@yahoo.co.in
ix
Editor for Rheumatology SECTION 18: OPHTHALMOLOGY
Vijay Viswanathan
Consultant in Pediatric Rheumatology Editors
Sandhi Children’s Clinic, Unit No 4, Doctor House TS Surendran
Plot No 101, Sector 21, Nerul (E), Navi Mumbai Vice Chairman, Director
Maharashtra, India Department of Pediatric Ophthalmology
dr_vjay77@yahoo.co.in President-Strabismological Society of India
drvjayv@gmail.com Sankara Nethralaya, 18, College Road
Nungambakkam, Chennai, Tamil Nadu, India
t_surendran@yahoo.co.uk
SECTION 15: ADOLESCENT HEALTH S Meenakshi

AND MEDICINE Senior Consultant
Department of Pediatric Ophthalmology
Director-Department of Academics
Editor
Sankara Nethralaya, 18, College Road
Swati Y Bhave
Nungambakkam, Chennai, Tamil Nadu, India
Senior Visiting Consultant
drms@snmail.org
Indraprastha Apollo Hospitals
New Delhi, India R Srikanth

Executive Director Fellow
AACCI Department of Pediatric Ophthalmology
CII/47 Shahjahan Road, New Delhi, India Sankara Nethralaya, 18, College Road
sybhave@gmail.com Nungambakkam, Chennai, Tamil Nadu, India
dr_sri1981@yahoo.com
SECTION 16: CHILD ABUSE, NEGLECT AND SECTION 19: OTORHINOLARYNGOLOGY

CHILD LABOR
Editor
Editor Divya Prabhat
Meenakshi Mehta Head
Head of Department ENT Department
Consultant Pediatrician BJ Wadia Hospital for Children, Parel
MGM Hospital, Parel Mumbai, Maharashtra, India
Mumbai, Maharashtra, India Jeevak Hospital, Near Dadar TT
meenakshinmehta2011@gmail.com Mumbai, Maharashtra, India
divyaprabhat@gmail.com
dr_meenakshi37@rediffmail.com
www.drdivyaprabhat.com
SECTION 17: DERMATOLOGY SECTION 20: PEDIATRIC SURGERY

Editors
Editor Ketan Parikh
Jayakar Thomas Consultant Pediatric Surgeon and Pediatric Laparoscopist
Professor and Head 302 Royal Chambers,
Department of Dermatology and STD Gulmohar Road, JVPD
Sree Balaji Medical College and Hospital Mumbai, Maharashtra, India
Chromepet, Chennai, Tamil Nadu, India Website info: http://www.pedsurg.in
jayakarthomas@gmail.com http://www.pedlap.com
x
Arbinder Kumar Singal SECTION 22: PEDIATRIC IMAGING
Pediatric Urologist and Hypospadiologist
MGM Hospital, Vashi, Navi Mumbai Editors
Maharashtra, India Nishigandha Burute
MITR Urology Center and Hypospadias Foundation Consultant Radiologist
Kharghar, Navi Mumbai Bhaveshwar Vihar
Maharashtra, India 383, Sardar VP Road
arbinders@gmail.com Mumbai, Maharashtra, India
www.hypospadiasfoundation.com nishirad@gmail.com
SECTION 21: ORTHOPEDICS Bhavin Jankharia

Consultant Radiologist
Editors President
K Sriram SRL Diagnostics-Jankharia Imaging
Consultant Orthopedic Surgeon Bhaveshwar Vihar
Kanchi Kamakoti Childs Trust Hospital 383, Sardar VP Road
Formerly, Professor and Head Mumbai, Maharashtra, India
Department of Orthopedics bhavin@jankharia.com
Madras Medical College, Chennai, Tamil Nadu, India
Kanchi Kamakoti Child Trust Hospital
Nungambakkam, Chennai
Tamil Nadu, India
Contributors
sriramortho@gmail.com
Vijay Sriram
Consultant Orthopedic Surgeon
Kanchi Kamakoti Child Trust Hospital
Nungambakkam, Chennai
Tamil Nadu, India
xi
Foreword
IAP Color Atlas of Pediatrics is an innovative attempt of IAP under Presidential Action Plan 2012, envisaged to
disseminate academics in a novel pictorial format, for the first time in the history of IAP, probably only second in the world after
Color Atlas of Tropical Pediatrics by American Academy of Pediatrics (AAP). This mammoth collection of images compiled
in an atlas should be a visual treasure in the library of an academician, which should also serve as ready-reckoner for a busy
practitioner and a boon for postgraduate students as well. I am sure this master creation artfully crafted by a dedicated team
of Executive Editors comprising, Drs Vijay N Yewale, Piyush Gupta, Ritabrata Kundu, Digant Shastri and Publication Editor,
Dhanya Dharmapalan and the 37 learned Section Editors who are experts in their respective specialty, under the
leadership of Dr A Parthasarathy, the Editor-in-Chief, the past President of IAP, who is not only the custodian but crusad-
er of child health. I must admit, the conceptuality was inspired and conceived from the Color Atlas of Tropical Pediatrics
but my dream was realized by missionary Dr A Parthasarathy and his editorial board taking the challenge on war-footing
and completing the job in a span of six months.
An honest attempt is being made to cover entire pediatric science under 22 subspecialty sections edited by section
editors who are Key Academic Opinion Leaders (KAOL) and experts in their respective fields. I, sincerely, appreciate
with deep admiration all those fellow academicians who have contributed by sharing their valuable collection of images
towards this esthetic creation, which in nutshell is exemplary par excellence.
Rohit Agrawal
National President
Indian Academy of Pediatrics, 2012
Foreword
It is my pleasure and privilege to write a foreword for IAP Color Atlas of Pediatrics. Let me at the outset congratulate
Dr Rohit Agrawal, President IAP 2012 and Dr A Parthasarathy, Editor-in-Chief; Drs Nitin K Shah, Dr Vijay N Yewale, Piy-
ush Gupta, Ritabrata Kundu, Digant Shastri and Dhanya Dharmapalan, all editorial board members for launching this
fantastic book within a short span of time. Let me also congratulate all the contributors of this book for their wonderful
performance. The color atlas is quite unique in that it is first Color Atlas of Pediatrics in the country and will be a ready-
reckoner for a busy practicing pediatrician and a guide book for postgraduate students. I have gone through the contents
of this book and it is quite fascinating. It contains color pictures, X-rays, CT scans and MRI of common pediatric prob-
lems affecting all systems, some of the rare and uncommon conditions encountered in pediatric practice with highlights
on management.
I wish this maiden endeavor all the best.
TU Sukumaran
National President
Indian Academy of Pediatrics, 2011
Preface
It is a matter of pride for the Indian Academy of Pediatrics to present the IAP Color Atlas of Pediatrics, the first ever
publication of an atlas in the history of Indian Academy of Pediatrics. The atlas, is modeled after the Color Atlas of Tropi-
cal Pediatrics published by the American Academy of Pediatrics in 2009 for which Dr A Parthasarathy, Editor-in-Chief,
IAP Textbook of Pediatrics as well as of this color atlas, was invited to serve as one of the international associate editors. In
fact, this atlas is one-step ahead of Color Atlas of Tropical Pediatrics as it includes the entire pediatric science in its ambit.
The IAP Color Atlas of Pediatrics provides an unsurpassed visual archive of pediatric illnesses both common and rare,
which a health professional dealing with children, encounters in day-to-day practice. Each colorful image, which speaks
volumes for itself, is supplemented with a brief description of the condition and suggested management. The images are
well organized under 22 specialty sections and furthermore, the conditions have been arranged in an alphabetical order
for easy and convenient reference. Each section has been framed and edited by the most experienced key opinion lead-
ers in the respective pediatric subspecialty field, from across the country. This has, in addition, undergone a further level
of scrutiny by well-known academicians.
Rather than a highly detailed, academic text, the IAP Color Atlas of Pediatrics is a practical working resource. This rich
color atlas features more than 1000 high-quality color images and relevant text details with a brief note on management
which spans almost every pediatric specialty. It focuses on early and rapid diagnosis of various pediatric illnesses, and
offers an outstanding, must have, ready-reckoner asset for students and in the practitioner’s office shelf.
Though private publications of Color Atlases in Neonatology, Pediatrics, Dermatology, etc., are available, but there is
no authentic publication by a professional body. It is indeed a pleasure to thank all the section editors and contributors
for their invaluable contributions in making this a bright academic success. We also thank the publishers for providing
this wonderful, superior print and flawless book.
It will always be a relentless endeavor of the Indian Academy of Pediatrics to provide better and latest information in
pediatrics. We welcome your feedback and criticism from all our readers which will only motivate us to improvise and
deliver the best.
We dedicate this wonderful creation to the parents and tiny tots in whose sufferings we have discovered learning
experience.
A Parthasarathy
Editor-in-Chief
Rohit Agrawal Nitin K Shah, Vijay N Yewale

Chief Academic Editor Academic Editors
Piyush Gupta, Ritabrata Kundu, Digant Shastri Dhanya Dharmapalan
Executive Editors Publication Editor
Acknowledgments
The Editor-in-Chief acknowledges with gratitude the dedication, devotion, commitment, hardwork and assistance provided
by the Chief Academic Editor, Dr Rohit Agrawal; Academic Editors, Drs Nitin K Shah and Vijay N Yewale; Executive Editors,
Drs Piyush Gupta, Ritabrata Kundu and Digant Shastri, for their untiring last minute scrutiny, coordination, cooperation and
concerted efforts in shaping the sections assigned to them to a near state-of-art version.
Special mention must be made about the Publication Editor Dr Dhanya Dharmapalan’s secretarial-cum-editorial
assistance in an untiring manner, despite her busy academic and professional commitments, with last minute efforts to
procure, scrutinize and proofread all the 22 Sections; but for her sincere efforts the atlas would not have seen the light
of the day.
Our gratitude and appreciation to all 37 learned Section Editors who made this publication possible with their brilliant
contributions sacrificing their professional and academic commitments for the last six months.
We acknowledge with gratitude the hard work of all our contributors for the crystal clear images and practical text
provided by them in different sections.
The editorial board is indebted to CIAP and its Office Bearers of IAP 2011, Dr TU Sukumaran, President; Tanmay
Amladi, Honorary Secretary General; Sailesh Gupta, Honorary Treasurer; Pravin Mehta, Academic Affairs Administrator;
Mr Gonsalves, Superintendent and his team of dedicated staff of CIAP and all executive board members of 2011 for their
moral support in executing this project successfully.
I would like to especially acknowledge our illustrious publishers M/s Jaypee Brothers Medical Publishers (P) Ltd,
New Delhi, India; Mr Jitendar P Vij (Chairman and Managing Director) for his innovative ideas and kind acceptance
to publish this unique atlas from his international publishing house; Mr Tarun Duneja (Director-Publishing) and
Ms Samina Khan (PA to Director-Publishing) for coordination, Mr KK Raman (Production Manager), Mr Sunil Dogra
(Production Executive), Mr Neelambar Pant (Production Coordinator), Mr Rajesh Sharma (Production Coordinator),
Subrata Adhikari (Author Coordinator) and Parul Goswami (Coordinator), and the team of Mr Gurnam Singh (Proofreader),
Mr Rajesh Kumar (Typesetter) and Mr Manoj Pahuja (Graphic Designer), for working hard day and night, to publish
this atlas in a record time with high production value matching international publication standards; Mr RP Mukherjee,
Branch Manager-Chennai Branch and Mr R Jayanandan (Sr Commissioning Editor), for coordination and the entire family
of publication for continued patronage to IAP publications.
My sincere gratitude to Mrs (Dr) Prathiba Janardhanan, Mrs Kavitha Balaji, Mr R Janardhanan, Mr P Balaji, Ms Shruthi
Pavana, Ms Swathi Pavana, Ms Kavya and Ms Mahiya for secretarial assistance and Mrs Nirmala Parthasarathy (PRO),
AP Child Care, Chennai, Tamil Nadu, India, for correspondence assistance.
A Parthasarathy
Editor-in-Chief
Contents
Section 1: Neonatology
Rhishikesh Thakre, Ruchi Nanavati
1.1 Normal Newborn...............................................................................................................................................3

1.2 Common Neonatal Conditions..........................................................................................................................6
1.3 Neonatal Systemic Disorders.........................................................................................................................10
1.4 Uncommon Neonatal Conditions but not Rare...............................................................................................15
1.5 Neonatal Diagnostic Imaging..........................................................................................................................18
1.6 Newborn Screening........................................................................................................................................21
1.7 Humane Neonatal Care..................................................................................................................................22
Section 2: Growth and Development

KN Agarwal, MKC Nair
2.1 Physical Growth Stages During First-Five Years of Life.................................................................................27

2.2 Common Errors in Growth Measurements.....................................................................................................28
2.3 Graphs Related to Growth..............................................................................................................................30
2.4 Development Assessment..............................................................................................................................32
Section 3: Nutrition
Meenakshi Mehta
3.1 Malnutrition Burden.........................................................................................................................................35

3.2 Protein-Energy Malnutrition (PEM) and Nutrient Deficiencies........................................................................37
3.3 Nutrition Education.........................................................................................................................................40
3.4 Amylase Rich Foods.......................................................................................................................................42
Section 4: Infectious Diseases

Jaydeep Choudhury, Nupur Ganguly
4.1 Common Conditions.......................................................................................................................................51

4.2 Uncommon Conditions but not Rare...............................................................................................................59
4.3 Infectious Disease Emergencies....................................................................................................................61
4.4 Syndromes......................................................................................................................................................62
Section 5: Neurology
PAM Kunju, Anoop Verma
5.1 Common Conditions.......................................................................................................................................67

5.2 Uncommon Conditions but not Rare...............................................................................................................80
5.3 Neurologic Emergencies.................................................................................................................................87
5.4 Syndromes......................................................................................................................................................90
Section 6: Cardiology
M Zulfikar Ahamed
6.1 History and Clinical Examination....................................................................................................................95

6.2 Heart Diseases Subsections...........................................................................................................................96
6.3 Emergencies................................................................................................................................................. 112
6.4 Syndromes.................................................................................................................................................... 114
Section 7: Pulmonology
TU Sukumaran, Devaraj Raichur
7.1 Common Conditions..................................................................................................................................... 119

7.2 Uncommon Conditions but not Rare.............................................................................................................131
7.3 Emergency Situations...................................................................................................................................137
7.4 Syndrome.....................................................................................................................................................140
7.5 Miscellaneous...............................................................................................................................................140
Section 8: Gastrointestinal System and Hepatology

Malathi Sathiyasekaran, A Riyaz
8.1 Common Conditions.....................................................................................................................................147

8.3 GI Emergencies............................................................................................................................................163
8.4 Syndromes....................................................................................................................................................165
Section 9: Nephrology
Pankaj Deshpande

xxii 9.3 Syndromes....................................................................................................................................................178
Section 10: Hematology
MR Lokeshwar, Bharat Agarwal

10.3 Hematological Emergencies.........................................................................................................................204
10.4 Syndromes....................................................................................................................................................205
Section 11: Oncology

Purna Kurkure, Anupama S Borker
11.1 Common Conditions..................................................................................................................................... 211

11.3 Oncologic Emergencies................................................................................................................................229
11.4 Syndromes....................................................................................................................................................230
Section 12: Endocrinology
Contents
Vaman Khadilkar, PSN Menon

12.3 Endocrine Emergencies................................................................................................................................253
12.4 Syndromes....................................................................................................................................................254
Section 13: Genetics

Shubha R Phadke, ML Kulkarni
13.1 Chromosomal Disorders...............................................................................................................................261

13.2 Syndromes with Growth Disorders...............................................................................................................264
13.3 Lysosomal Storage Disorders.......................................................................................................................268
13.4 Skeletal Dysplasias.......................................................................................................................................269
13.5 Malformations/Malformation Syndromes......................................................................................................272
13.6 Miscellaneous Monogenic Disorders............................................................................................................276
Section 14: Allergy, Rheumatology

Major K Nagaraju, Vijay Viswanathan
14.1 Common Allergic Conditions.........................................................................................................................283

14.2 Uncommon Allergic Conditions but not Rare................................................................................................287 xxiii
14.3 Common Rheumatological Conditions.........................................................................................................293
14.4 Uncommon Rheumatological Conditions but not Rare.................................................................................296
14.5 Musculoskeletal Syndromes.........................................................................................................................299
Section 15: Adolescent Health and Medicine

Swati Y Bhave
15.1 Growing Up Issues.......................................................................................................................................303

15.2 Systemic Problems.......................................................................................................................................309
15.3 Miscellaneous...............................................................................................................................................313
15.4 Community Programs...................................................................................................................................332
Section 16: Child Abuse, Neglect and Child Labor

Meenakshi Mehta
16.1 Child Abuse and Neglect..............................................................................................................................339

16.2 Child Labor...................................................................................................................................................347
Section 17: Dermatology

Jayakar Thomas

17.3 Dermatologic Emergencies...........................................................................................................................377
17.4 Syndromes....................................................................................................................................................378
Section 18: Ophthalmology

TS Surendran, S Meenakshi, R Srikanth

18.3 Emergencies.................................................................................................................................................391
18.4 Syndromes....................................................................................................................................................395
Section 19: Otorhinolaryngology

Divya Prabhat

xxiv 19.3 ENT Emergencies.........................................................................................................................................415
19.4 Syndromes....................................................................................................................................................420
Section 20: Pediatric Surgery
Ketan Parikh, Arbinder Kumar Singal
20.1 Common External Conditions.......................................................................................................................425

20.2 Head and Neck Conditions...........................................................................................................................429
20.3 Chest and Diaphragm...................................................................................................................................431
20.4 Gastrointestinal and Hepatobiliary Disorders...............................................................................................433
20.5 Pediatric Urological Conditions.....................................................................................................................440
20.6 Solid Tumors of Childhood............................................................................................................................444
Section 21: Orthopedics

K Sriram, Vijay Sriram

21.3 Emergencies.................................................................................................................................................457
21.4 Syndromes....................................................................................................................................................458
Contents
Section 22: Pediatric Imaging
Nishigandha Burute, Bhavin Jankharia
22.1 Abdomen......................................................................................................................................................463
22.2 Brain.............................................................................................................................................................467
22.3 Chest............................................................................................................................................................470
22.4 Congenital (Multiorgan)................................................................................................................................475
22.5 Musculoskeletal............................................................................................................................................476
Index................................................................................................................... 483
xxv
Section 1
Neonatology
Section Editors
Rhishikesh Thakre, Ruchi Nanavati
Photo Courtesy
Amit Jagtap, Anirudh Thakre, Anuradha Khadilkar, Bonny Jasani, KP Sanghvi,
Naveen Bajaj, Nidhi Bagdia, Pradeep Suryawanshi, Pradnya Deshmukh, PS Patil,
Ramesh Sitaram Bajaj, Rhishikesh Thakre, Ruchi Nanavati, Sanjay Aher,
Sanjay Ghorpade, Sanjay Lalwani, Sankaranarayanan Krishnamoorthy,
Snehal Thakre, Srinivas Murki, Sheila Mathai, Vishal Pawar
1.1 Normal Newborn

1.2 Common Neonatal Conditions
1.3 Neonatal Systemic Disorders
1.4 Uncommon Neonatal Conditions but not Rare
1.5 Neonatal Diagnostic Imaging
1.6 Newborn Screening
1.7 Humane Neonatal Care
Section Outline
1.1 NORMAL NEWBORN 3 ♦ Hydrops 13
♦ Acrocyanosis 3 ♦ Inguinal Hernia 13
♦ Breast Engorgement 3 ♦ Meconium Plug Syndrome 14
♦ Capillary Refill Time 3 ♦ Meningomyelocele 14
♦ Caput Succedaneum 4 ♦ Omphalocele 14
♦ Feeding Cues 4 ♦ Pierre-Robin Sequence 15
♦ Normal Newborn 4 ♦ Polycythemia 15
♦ Skin Peeling 5
1.4 UNCOMMON NEONATAL CONDITIONS BUT NOT RARE 15
♦ Skin Tags 5
♦ Ambiguous Genitalia 15
♦ Vaginal Discharge 5
♦ Chickenpox 16
♦ Vernix Caseosa 6
♦ Clubfoot—Congenital Talipes Equinovarus (CTEV) 16
1.2 COMMON NEONATAL CONDITIONS 6 ♦ Congenital Glaucoma 16
♦ Cephalhematoma 6 ♦ Collodion Baby 17
♦ Contact Dermatitis 6 ♦ Epidermolysis Bullosa 17
♦ Erb’s Palsy 7 ♦ Fungal Dermatitis 17
♦ Infant of Diabetic Mother 7
1.5 NEONATAL DIAGNOSTIC IMAGING 18
♦ Intrauterine Growth Retardation (IUGR) 7
♦ Congenital Diaphragmatic Hernia (CDH) 18
♦ Jaundice 8
♦ Congenital Lobar Emphysema (CLE) 18
♦ Oral Thrush 8
♦ ET Position 19
♦ Preterm 8
♦ NEC Stage II 19
♦ Pustules 9
♦ Pneumoperitoneum 19
♦ Seborrheic Dermatitis (Cradle cap) 9
♦ Pneumothorax 20
♦ Umbilical Granuloma 9
♦ Postextubation Collapse 20
♦ Undescended Testis 10
♦ Tracheoesophageal Fistula 20
1.3 NEONATAL SYSTEMIC DISORDERS 10 ♦ USG Skull-IVH 21
♦ Abdominal Distention 10
1.6 NEWBORN SCREENING 21
♦ Acholic Stools 10
♦ Hearing Screening 21
♦ Achondroplasia 11
♦ Hypoglycemia Screening 21
♦ Anal Agenesis 11
♦ Metabolic Screening 22
♦ Beckwith-Wiedemann Syndrome 11
♦ Retinopathy of Prematurity (ROP) Screening 22
♦ Bilirubin Encephalopathy 12
♦ Capillary Leak Syndrome 12 1.7 HUMANE NEONATAL CARE 22
♦ Cyanosis 12 ♦ Developmentally Supportive Care 22
♦ Gastroschisis 13 ♦ Kangaroo Care 23
1.1 NORMAL NEWBORN
Picture Note Management
Acrocyanosis
Note the central portion (chest) • Acrocyanosis is common,
of the body appears pink but the transient, self limiting condition
extremities, particularly the palms seen after birth, disappearing
and soles are blue. The skin and over the next few hours.
mucosa are spared. • It must be differentiated
from central cyanosis (bluish
discoloration of skin, mucous
membranes), which is not normal
and indicates need for urgent
evaluation.
• Acrocyanosis is also seen in
babies with cold stress.
Figure 1.1.1: Acrocyanosis
Photo Courtesy: Rhishikesh Thakre, Aurangabad
Breast Engorgement
Note the bilateral fullness of both • The condition resolves
the breasts. The overlying skin spontaneously and no
shows no signs of redness, warmth intervention is required; just
or local tenderness. At times, there reassurance.
may be milky discharge from the • It results from stimulation of
breasts called “witch’s milk”, which breast tissue by high levels of
is a benign phenomenon. maternal hormones.
• Massage or squeezing the breasts
or nipples is not recommended as
this may lead to breast infection
Figure 1.1.2: Breast engorgement (Mastitis).
Photo Courtesy: Anirudh Thakre, Pune
Capillary Refill Time

The picture shows capillary refill • Assessment of CRT is an integral
time (CRT) being assessed by part of newborn assessment for
blanching of the skin following perfusion.
gentle digital pressure over the • CRT in neonates is best assessed
sternum. Such blanching usually over central areas like sternum
recovers within 3 seconds and is or forehead. It is not assessed
considered normal. If this blanching over extremities as it may be
extends beyond 3 seconds, then it influenced by environmental
suggests poor perfusion and is one temperature.
of the signs of shock.
Figure 1.1.3: Capillary refill time (CRT)
Photo Courtesy: Ruchi Nanavati, Mumbai
3
Caput Succedaneum
Note the diffuse, soft, puffy, scalp No tests or treatment is
swelling, crossing the suture line necessary. Caput usually subsides
with variable degree of discoloration spontaneously within a few days.
or bruising.
Caput is present at birth unlike
cephalhematoma which appears
after 24 to 48 hours.
Figure 1.1.4: Caput succedaneum

Photo Courtesy: Vishal Pawar, Aurangabad
Feeding Cues
Note the mouthing-getting hands, • A healthy infant should be given

fingers to face and mouth—with the opportunity to show hunger,
lip smacking movements which are optimal reflexes and attachment
clues to signs of hunger. These are to the areola by itself. Cue-based
associated with periods of alertness breastfeeding is a pleasurable
and wakefulness with drooling, experience for both, mother and
at times. Cry is a late and last of baby.
hunger signs in newborn. • Forcing infant to the breast can
be counterproductive as it might
disturb the rooting reflex and alter
Figure 1.1.5: Feeding cues the tongue position, as the infant
Photo Courtesy: Ruchi Nanavati, Mumbai reflexively raises tongue to protect
airway.
Normal Newborn
Note the newborn appears pink, has • The cord is clamped and cut at
vigorous activity, with good muscle birth and the newborn given
tone (note the flexion of elbows and straight to the mother for skin
knees). Following establishment to skin contact and to establish
of cry at birth, the heart rate is in breastfeeding.
normal range (120-180 per min) • The essential care for all
with regular respiration (40-60 per newborns at birth includes
min). helping to breathe, maintain
temperature, asepsis care and
exclusive breastfeeding within
Figure 1.1.6: Normal newborn first hour of life.
Photo Courtesy: Rhishikesh Thakre, Aurangabad • All newborns at birth should
receive Inj vitamin K, 1 mg, IM to
4 prevent hemorrhagic disease.
Skin Peeling
Note the fine, diffuse scaling • Skin peeling is a natural
and peeling of the skin at thigh phenomenon in term and
and soles. The underlying skin postdated babies. It does not
is perfectly normal, soft, and need any creams, oil, ointment or
moist. There is no hair loss, shiny lotions.
membrane formation or signs of • Excessive peeling is seen in
inflammation. This is typically seen pathological conditions like
from the second day of life and last placental dysfunction, congenital
a few days. syphilis and candidiasis.
Figure 1.1.7: Skin peeling

Skin Tags
Note the prominent, pedunculated • When associated with other
skin lesions 1 to 2 cm in length over craniofacial anomalies, hearing
the cheek near the angle of the assessment is warranted.
mouth and in the preauricular area • These skin tags pose more of
with a narrow base. The tags show cosmetic problem and rarely
no overlying inflammation and are become infected.
painless.
Figure 1.1.8: Skin tags

Vaginal Discharge
This newborn girl has a creamy, The condition is self limiting and
thick vaginal discharge. This may be is due to withdrawal of maternal
noted intermittently, during first few hormones. It requires no treatment,
days of life; sometimes associated just some gentle reassurance. It
with vaginal spotting or bleeding. subsides by first few weeks of life.
Figure 1.1.9: Vaginal discharge 5

Photo Courtesy: Nidhi Bagdia, Aurangabad
Vernix Caseosa
Note that the entire body and the • Vernix facilitates passage
skin folds—thigh, axilla and face at through birth canal, prevents
birth is covered by a creamy white transepidermal water loss, helps
substance. Vernix appears primarily maintain body temperature,
in full-term infants and is rarely protects the delicate skin from
seen in preterm and postdated environmental stress, and has
babies. skin cleansing, antioxidant,
wound healing and probably
antibacterial properties.
• Removing vernix for cosmetic
Figure 1.1.10: Vernix caseosa reasons is not recommended.
1.2 COMMON NEONATAL CONDITIONS

Cephalhematoma
There is a firm, scalp swelling with • In majority, the management

clear edges not crossing the suture is mainly observation and
lines (in contrast to caput) over the assurance to parents.
left parietal bone. • If significant, the newborn may
This subperiosteal swelling develop jaundice, anemia or
gradually hardens (calcification) hypotension.
leaving a relatively soft center and • Skull X-ray or CT scan is done, if
fades away in first few months. neurological symptoms appear
or concomitant skull fracture is
suspected.
• Aspiration is not recommended
as it increases risk of infection.
Figure 1.2.1: Cephalhematoma

Photo Courtesy: PS Patil, Aurangabad
Contact Dermatitis
Note the skin fold at the neck • Removing the cause of irritation is
shows erythematous, moist lesion the first step. Such babies need to
extending to the adjoining area. be bath with warm water followed
The infant is cranky on handling by drying the skin thoroughly
the lesion. This is usually due to with a clean, soft cloth.
irritation of skin by sweat, soap, • Applying moisturizer or
oil or lotions. If the clothes are petroleum jelly is helpful. Use
tight, they rub the site, worsening loose fitting clothes that allow the
the condition and pain causing skin to breath. Heavy clothes can
excessive crying. cause baby to sweat, making the
Figure 1.2.2: Contact dermatitis site worse.
Photo Courtesy: PS Patil, Aurangabad • Application of zinc oxide cream
6 and mild steroid in non-flexural
areas is helpful.
Erb’s Palsy
Note the Waiter’s tip deformity • Many Erb’s palsy infants improve
sign—the left arm hangs by the or recover spontaneously. Onset
side and is rotated medially; the of recovery within 2 to 4 weeks
forearm is extended and pronated. is a favorable sign. Presence of
The arm cannot be raised from “antigravity” movement by the
the side; all power of flexion of the end of the third month is an
elbow is lost, as is also supination of excellent prognostic sign.
the forearm. Deep tendon reflexes • Klumpke’s palsy and total plexus
are absent.The hand and wrist are injuries have worse prognoses.
spared and there is a normal grasp.
This is characteristic of Erb’s palsy • If there are no signs of
(C5-8) which accounts for 90% of all improvement by 3 to 6 months,
brachial plexus injuries. Klumpke’s spontaneous improvement is
paralysis (C8-T1) leads to clawed unlikely, and surgical exploration
Figure 1.2.3: Erb’s palsy
Photo Courtesy: Rhishikesh Thakre, Aurangabad hand with inability to grasp or flex can be considered.
wrist.
Infant of Diabetic Mother
The baby is large for gestation • Cord sugar estimation should be
(birth weight > 90th percentile). done in delivery room to predict
The infant has excessive fat subsequent hypoglycemia.
deposition in cheeks, neck (which • Management involves supervised,
is almost buried), trunk and the early, frequent feeding,
extremities. The pinnae may be close clinical monitoring for
hairy and may be a clue to diabetes complications, and screening and
in mother. treatment of hypoglycemia.
Figure 1.2.4: Infant of diabetic mother

Photo Courtesy: Sheila Mathai, Mumbai
Intrauterine Growth Retardation (IUGR)

Note the IUGR baby appears Problems unique to IUGR
small with generalized loss of babies include hypothermia,
subcutaneous fat. The extremities hypoglycemia, polycythemia,
are thin, the baby looks alert but meconium aspiration and
emaciated. The head appears large jaundice. Closed supervision and
compared to the body. When the early detection of the problems is
weight is less than 10th percentile required.
for gestation it is called SGA (small
for gestational age).
Figure 1.2.5: Intrauterine growth retardation 7

Photo Courtesy: Bonny Jasani, Mumbai
Jaundice
Note the yellowish discoloration • Visual inspection is not a reliable
of skin over the trunk, thighs and indicator to estimate the extent of
extremities. The eyes and genitalia jaundice.
are covered to protect from • The gold standard of jaundice
phototherapy light. estimation is total serum
Jaundice is assessed in bright light, bilirubin (TSB). When TSB is
with the infant naked, by blanching > 95th percentile for age in hours,
the skin with finger pressure to as per AAP guidelines, detailed
observe for underlying yellowing evaluation is mandatory.
of skin. Jaundice assessment for
Figure 1.2.6: Jaundice
infants receiving phototherapy is
unreliable.
Oral Thrush
The picture shows white, curdish • Oral thrush is a common fungal
plaques over the tongue, buccal infection caused by Candida

mucosa, extending upto soft palate. albicans. The diagnosis is clinical.
These lesions cannot be removed • The treatment of choice is
and bleed on scrapping. There oral nystatin suspension.
may be chelosis of the angle of the Simultaneous treatment of
mouth and concomitant diaper maternal nipple infection is must.
dermatitis. These lesions usually
present with feeding difficulty.
Figure 1.2.7: Oral thrush

Preterm
Note the baby appears small, the • A combination of physical
skin is thin, shiny, smooth and and neurolgic signs (using
uniformly pink. The breast buds New Ballard score or Modified
may be absent or just palpable and Dobowitz score) is used for
the ear recoil is slow or absent. The gestational assessment.
ear pinnae appear smooth with • Common problems of preterms
little or no palpable ear cartilage. include hypothermia, respiratory
There may be lanuago—excessive distress syndrome, poor
body hairs over the back, trunk and oro-motor coordination, patent
Figure 1.2.8: Preterm forehead. In males, the scrotum ductus arteriosus, necrotizing
Photo Courtesy: Anirudh Thakre, Pune has less of rugosity, testis are not in enterocolitis and intraventricular
the scrotal sac. In females, the labia hemorrhage.
majora are spread out with labia
minora visible. The soles may show
8 few creases in the anterior third.
Pustules
Note the periumbilical area shows • A few lesions in a healthy term
evidence of pustles. The adjacent infant may be treated with topical
skin shows erythema. At times, there antibiotic and oral therapy.
may be induration, hardening of the • More extensive lesions, systemic
adjoining skin with pus discharge. illness, or pustulosis occuring
in the premature infant requires
intravenous therapy. Most
common causative organism is
Staphylococcus aureus.
Figure 1.2.9: Pustules

Seborrheic Dermatitis (Cradle cap)

Note the greasy, yellow plaques on In mild cases, the condition is
the scalp with some degree of hair self-limited. Treatment options
loss. Pruritus is infrequent unlike include gentle scrubbing, applying
atopic dermatitis. Such lesions are vaseline and using a soft brush to
highly prevalent during the first 4 remove scale. Occasionally, topical
weeks of life and primarily affect in mild corticosteroid or antifungal is
addition the intertriginous areas. indicated.
Figure 1.2.10: Seborrheic dermatitis

(Cradle cap)
Photo Courtesy: PS Patil, Aurangabad
Umbilical Granuloma
There is a well-circumscribed, • Small umbilical granuloma
friable, moist, pinkish tissue usually respond to application of
at the base of the umbilicus. It crystal salt or silver nitrate.
may produce variable amounts • Large umbilical granuloma or
of drainage that can irritate the those that persist after silver
surrounding skin. Such lesion nitrate treatment require surgical
differs from an umbilical polyp excision.
(represents retained intestinal or
gastric mucosa from the vitelline
duct) which is brighter red than a
granuloma and does not respond to
Figure 1.2.11: Umbilical granuloma
Photo Courtesy: Rhishikesh Thakre, Aurangabad silver nitrate cauterization.
9
Undescended Testis
Note that the scrotal sac appears • First physical examination of
empty with incomplete overlying newborn must confirm testis are
rugosity. Both the testis cannot be in scrotum.
palpated in the scrotum. Retractile • Patients with undescended testes
testes are commonly confused with should be referred for surgical
undescended testes. Retractile testis evaluation no later than 3 months
can be delivered into the scrotum, of age.
stay in the scrotum and have a well • A child with bilateral nonpalpable
developed scrotum. testes should have an endocrine
evaluation to rule out anorchia or
intersex.
Figure 1.2.12: Undescended testis • Definitive treatment is surgical
Photo Courtesy: Ramesh Sitaram Bajaj,
Aurangabad
(orchiopexy) but GnRH and hCG
are used, with success rates of
30 to 50%.
1.3 NEONATAL SYSTEMIC DISORDERS

Abdominal Distention
Note the infant has generalized • Abdominal distention may
abdominal distention with result from aerophagia, fluid
transversely stretched umbilicus. accumulation, organomegaly,
The upper segment is more lump or intestinal obstruction.
prominent than the lower segment. • Progressive abdominal distention
A feeding tube is in situ to aspirate warrants search for underlying
the abdominal contents to monitor cause. X-ray abdomen may
the color, frequency and consistency be diagnostic for intestinal
of the aspirate. The veins over the obstruction. If inconclusive,
abdomen are prominent and some electrolytes, urine, USG, sepsis
Figure 1.3.1: Abdominal distention
abdominal loops visible suggesting screen, CT imaging with contrast
Photo Courtesy: Ramesh Sitaram Bajaj, a pathological cause. In all cases, may be needed.
Aurangabad anal patency should be confirmed.
When associated with recurrent
vomiting, absent bowel sounds,
profuse vomiting—clear or bilious,
constipation, failure to thrive,
surgical cause needs to be ruled out.
Acholic Stools
The stools appear clay colored or Acholic or clay stools result from
pale. The normal yellow color of disorder in the biliary system (the
the stools is because of presence drainage system of the gallbladder,
of bile pigments. Decreased liver, and pancreas) and manifests
bile production or block in the with cholestasis. Cholestasis is
bile flow leads to clay or acholic always pathological and needs
stools. Jaundice often occurs expert evaluation.
with acholic stools suggesting
underlying cholestasis—direct
Figure 1.3.2: Acholic stools hyperbilirubinemia with high
10 Photo Courtesy: Rhishikesh Thakre, Aurangabad
colored urine staining the cloth.
Achondroplasia
• Picture shows a newborn with • Most cases appear as
short limb dwarfism, upper to spontaneous mutations.
lower segment ratio > 1.7:1. • Children are at risk of recurrent
Also note short extremities, otitis media, bowing of
megalocephaly, coarse faces, legs, respiratory problems,
frontal bossing, low nasal bridge, hydrocephalus, motor delay and
protruding jaw and relatively psychosocial problems.
small thorax.
• Diagnostic modalities include
• The hands are short and stumpy prenatal ultrasound, DNA tests
and the feet may be short flat for homozygosity and radiological
and broad. The lifespan and survey.
intelligence is ‘normal’ in
• There is no specific treatment.
majority.
Figure 1.3.3: Achondroplasia
Anal Agenesis
Note the male infant has no anal • First physical examination of
opening suggesting anal agenesis— newborn must confirm anal
an anorectal malformation. There orifice presence and patency.
may be associated fistulae between • An invertogram or lateral pelvic
the rectum, and the urinary, or the radiography at 24 hours of age
genital tracts. Such infants present is used to type the lesion with
soon after birth with abdominal relation to puborectalis sling. The
distention and failure to pass treatment is surgical.
meconium.
Figure 1.3.4: Anal agenesis

Aurangabad
Beckwith-Wiedemann Syndrome
This shows macrosomia, • Usually sporadic occurrence.
macroglossia, omphalocele usually • May present as persistent
associated with visceromegaly. hypoglycemia
These infants have prominent
occiput, transverse crease on the
ear lobe, hemihypertrophy, nevus
flammeus and hyperinsulinemic
hypoglycemia.
Figure 1.3.5: Beckwith-Wiedemann syndrome

Photo Courtesy: KP Sanghvi, Mumbai
11
Bilirubin Encephalopathy
Note the yellowish discoloration of • Exchange transfusion and
the infant extending up to the soles intensive phototherapy is
with setting sun sign—visible upper treatment of choice.
sclera with yellow staining. There is • In early phase, interventions
arching of the back, straightening can reverse brain damage. With
of both the upper limbs suggesting established encephalopathy brain
hypertonia. Such infants have damage is not reversible.
asymmetric or absent Moro’s reflex
with shrill cry. These signs suggest
neurologic dysfunction secondary
Figure 1.3.6: Bilirubin encephalopathy to unconjugated bilirubin binding
Photo Courtesy: Rhishikesh Thakre, Aurangabad to the brain.
Capillary Leak Syndrome

Note the edema of hands and lower Treatment of the underlying cause,
limbs extending up to the feet. The aggressive supportive care with

overlying skin is shiny and stretched vasopressor therapy and judicious
out due to dependent edema. Such fluid replacement is the key.
infants develop hypotension, hemo-
concentration, hypoalbuminemia,
multiple organ failure due to
capillary leak syndrome which is
leakage of fluid from the circulatory
system to the interstitial space.
It is commonly seen with severe
sepsis, asphyxia, renal failure,
severe liver disease and systemic
Figure 1.3.7: Capillary leak syndrome inflammatory response syndrome.
Cyanosis
Note the bluish discoloration of the Cyanosis can result from a range of
sole. disorders, including hypothermia,
It is due to increased concentration cardiac, parenchymal/
of reduced hemoglobin (>5 gm%) in non-parenchymal pulmonary,
the blood. metabolic, hematologic and
neurological disorders. Cyanotic
Central cyanosis is characterized by
newborn requires systematic
dusky skin and mucus membranes.
approach, urgent assessment,
Peripheral cyanosis involves the
diagnosis, and initiation of therapy.
hands and feet without affecting
the mucosa and the central body.
Central cyanosis is a “danger sign”
in newborn.
12 Figure 1.3.8: Cyanosis

Gastroschisis
Note the abdominal wall defect Avoid handling exposed bowel.
arising outside the umbilical Wrap bowel in sterile, moist or
ring and the herniated bowel not waterproof material to prevent
covered by peritoneum or amnion. drying, heat and water loss, and
The defect measures 2 to 4 cm and infection. Following stabilization
usually lies just to the right of the primary closure is done.
umbilicus.
The organs extruded other than
bowels at times include stomach,
urinary bladder, uterus and adnexa.
Figure 1.3.9: Gastroschisis The earlier the rupture, the more
Photo Courtesy: Ramesh Sitaram Bajaj, matted the bowel.
Aurangabad
Unlike omphalocele, gastroschisis
is less commonly associated with
other anomalies.
Hydrops
Shows generalized edema of • Historically associated with
body, trunk, and extremities. The Rh-isoimmunization. However,
infant is intubated at birth due to currently nonimmune conditions
poor lung expansion as a result are major causes of hydrops.
of pleural effusion and ascites. • Careful history, selected
There may be pericardial effusion, diagnostic studies are mandatory
polyhydramnios and placental to identify the cause but etiology
edema. Fetal hydrops as a physical sometimes may remain elusive in
sign carry the stigma of poor 20% of hydrops cases.
prognosis to the extent that hydrops
• Management is complex and
itself is taken as diagnosis.
Figure 1.3.10: Hydrops requires advanced preparation.
Photo Courtesy: Sanjay Aher, Nashik
Inguinal Hernia
Note the bulge localized to the • The diagnosis is made on the
left inguinal area. At times, it may basis of the clinical history and
extend into the scrotum. The bulge examination. However, in some
becomes prominent on straining or cases, use of scrotal or inguinal
crying. The swelling is painless and ultrasonography is indicated.
shows no signs of inflammation.The • Treatment is surgical, as early as
right side is unaffected. The hernia possible, for fear of obstruction or
is due to protrusion of abdominal strangulation of the hernia.
contents through the inguinal canal
outside the peritoneal cavity.
Figure 1.3.11: Inguinal hernia
Aurangabad 13
Meconium Plug Syndrome

The picture shows tenacious string Plain films with contrast enema is
of meconium passed which is diagnostic and show the outline of
usually by 24 to 48 hours. The lower the meconium plug. In general, this
bowel contents could be too dry and disease is observed in premature
extensive forming a plug causing newborns who are otherwise
lower bowel obstruction. It is a normal. However, cystic fibrosis
diagnosis of exclusion. Meconium and Hirschsprung’s disease may be
ileus is impaction of meconium associated with process and should
more proximally, usually in the be excluded.
terminal ileum.
Figure 1.3.12: Meconium plug syndrome
Photo Courtesy: Amit Jagtap, Mumbai
Meningomyelocele
Note the defect over the lumbar • An open meningomyelocele is

spine with visible lesion with intact closed early to protect against
skin cover with no discharge, infection. A ventriculoperitoneal
protruding from the spinal shunt may be required for
canal containing the spinal cord associated hydrocephalus.
with the meninges suggesting a • A multidisciplinary approach for
meningomyelocele—a neural long-term management is must.
tube defect. Such infants also
• Folic acid supplement is
have affection of the nerves to
advocated prior to conception for
Figure 1.3.13: Meningomyelocele the bladder, bowel and lower
prevention of neural tube defects.
extremities. The higher the level
Aurangabad
of the defect, the more severe the
associated nerve dysfunction and
resultant paralysis. It may occur in
isolation or with other congenital
malformations including midline
defects.
Omphalocele
Note the herniation of the intestines Diagnosis is clinical and no tests are
through the base of the umbilicus required. The size of the herniation
covered by intact skin. The determines the mode of delivery
underlying intestines are easily seen as well as the postnatal treatment
(Fig. 1.3.14B) but with passage of of omphalocele, while the degree
time skin growth takes place over of liver involvement determines
the defect if the repair is delayed the level and type of omphalocele
A B (Fig. 1.3.14A). Up to 40% of infants treatment.
Figures 1.3.14A and B: Omphalocele
with an omphalocele have other
Photo Courtesy: Sanjay Lalwani, Pune birth defects.
14 Ruchi Nanavati, Mumbai
Pierre-Robin Sequence
Note the combination of • No special diagnostic tests

micrognathia, retrognathia leading are required. Management
to glossoptosis and cleft palate. involves supervised feeds,
These may cause upper airway head high nursing, prone or
obstruction. Such babies have lateral positioning, and at times
feeding problems, aspiration, ear nasopharyngeal airway.
Figure 1.3.15: Pierre-robin sequence infections, reduced hearing, or may • Surgical options include
Photo Courtesy: Srinivas Murki, Hyderabad be part of syndrome. tongue-lip ankylosis, mandibular
Most of these babies grow to lead a distraction and cleft palate repair.
healthy and normal adult life. The small jaw usually outgrows
during the first two years, and no
jaw surgery is necessary.
Polycythemia
Note the sole appear flushed and • Routine screening of term well
pink red. Such a baby appears neonates is not indicated.
plethoric—body color appears • In high-risk infants (e.g. SGA),
uniformly red. A diagnosis of hematocrit is done 6 to 8 hours
polycythemia is made in such a following birth.
baby if the hematocrit is > 65%.
• Partial exchange transfusion
Commonly seen with conditions
is done with normal saline if
causing increased placental
hematocrit is ≥ 70 % (even in an
transfusion, placental insufficiency
asymptomatic infant) and ≥ 65%
and IUGR.
in symptomatic infant.
Figure 1.3.16: Polycythemia
1.4 UNCOMMON NEONATAL CONDITIONS BUT NOT RARE

Ambiguous Genitalia
Note the baby is darkly pigmented • Commonest cause of ambiguous
(more so on genitals, umbilicus), genitalia is congenital adrenal
has clitoral hypertrophy and hyperplasia (CAH).
impalpable gonads. • Baseline tests include 17-hydroxyl
Common presentation is salt progesterone (reference range
wasting crisis—unexplained shock, < 6 nmol/L), adrenocorticotrophic
metabolic acidosis, hyponatremia hormone assay (reference range
and hyperkalemia. 2–11 pmol/L) which are elevated
and karyotyping (46XX female)
confirming the diagnosis of salt
wasting type of CAH.
• These infants require replacement
therapy with glucocorticoids
(hydrocortisone 10–20 mg/m2/
Figure 1.4.1: Ambiguous genitalia day) and mineralocorticoids
Photo Courtesy: Anuradha Khadilkar, Pune (fludrocortisone 100–200 μg/day). 15
Chickenpox
Note the generalized vesicular • Nurse mother and baby together
eruption with rash in varying but isolate from other patients.
stages across the body. The infant is Continue breastfeeding.
afebrile with no eye affection with • Admit the infant into hospital
history of maternal chickenpox. isolation room who has rash or is
Neonatal chickenpox within the first unwell.
4 days after birth is usually mild.
• Zoster immunoglobulin is given
(2 ml, IM) for very preterm
babies or to infants whose mother
Figure 1.4.2: Chickenpox
develops chickenpox 1 week on
Photo Courtesy: Sanjay Ghorpade, Satara either side of delivery.
• Aciclovir is given to infants
who develop chickenpox with
maternal history of chickenpox,
4 days before to 2 days after
delivery.
Clubfoot—Congenital Talipes Equinovarus (CTEV)

Note both the feet are affected • Approximately 50% of clubfeet
and rotated internally at the ankle. in newborns can be corrected
It is classified as postural (can non-operatively.
be manipulated) or structural • Foot manipulation should begin
deformity (fixed deformity). within 2 weeks of birth by gentle
Similar deformities are seen with stretching and repeated casting.
myelomeningocele hence always A special brace is worn thereafter
look for spinal dysraphism and nearly full time for 3 months
defects of the spine in such babies. using it up to 3 years. Often
tenotomy works.
Figure 1.4.3: Congenital talipes equinovarus • For severe cases surgery is
Photo Courtesy: Srinivas Murki, Hyderabad required.
Congenital Glaucoma
Picture shows diffuse corneal • Examination under anesthesia
opacity with bilateral enlargement (EUA) is first required to confirm
of globe (buphthalmos). Congenital diagnosis.
glaucoma is the commonest • Treatment includes goniotomy
cause of buphthalmos. Such or trabeculectomy. Up to 50%
infants have elevated intraocular of children do not achieve
pressure (IOP), edema, and vision better than 20/50 despite
opacification of the cornea. treatment. If untreated, optic
Symptoms include photophobia, atrophy ensues.
blepharospasm, and excessive
tearing (hyperlacrimation). It may
Figure 1.4.4: Congenital glaucoma
Photo Courtesy: Snehal Thakre, Aurangabad
be associated with other ocular
16 and/or systemic findings.
Collodion Baby
Note the infant is encased in a • Most collodion babies do have a
tight, shiny, hard, inelastic scale, form of ichthyosis.
resembling oiled parchment. • Collodion babies need to
Tightness of membranes may cause be nursed in high humidity
ectropion (eversion of eyelids), environment, and monitored
eclabium (turning out of the lips), closely for complications.
flattening of ears and nose with Application of mild petroleum-
absence of hairs. The collodion based moisturizers is helpful.
membrane cracks and peels over
• A consult with a pediatric
course of time.
dermatologist is necessary.
Figure 1.4.5: Collodion baby These infants are at increased the
Photo Courtesy: KP Sanghvi, Mumbai
risk of infection, dehydration,
fluid loss, electrolyte imbalance,
body temperature instability, and
pneumonia.
Epidermolysis Bullosa
Picture shows vesicobullous • Mild forms do not need
eruptions in different stages over treatment. A skin biopsy is done
extremities, chest and abdomen. to type the disease.
EB is a disorder that causes the skin • Prevention of infection and
to be fragile leading to formation protection of fragile skin surfaces
of painful blisters over skin and is the goal of treatment.
mucous membranes.
Severity ranges from simple
non-scarring bullae to severe forms
Figure 1.4.6: Epidermolysis bullosa with multiple large lesions with loss
Photo Courtesy: Sanjay Ghorpade, Satara of large areas of epidermis.
Fungal Dermatitis
Note the erythematous rash that The area is kept dry and frequently
tends to occur in the creases, in the exposed to air. Apply antifungal
groin, in the skin folds and buttocks cream topically.
and is usually very red with smaller
spots called “satellite” lesions. There
are usually no other associated signs
or symptoms. The rash is painless
and is not itchy. In contrast, contact
dermatitis does not involve the
groins.
Figure 1.4.7: Fungal dermatitis

Photo Courtesy: Srinivas Murki, Hyderabad 17
1.5 NEONATAL DIAGNOSTIC IMAGING
Congenital Diaphragmatic Hernia (CDH)

Radiograph shows presence • CDH often occur with
of intestinal loops in the polyhydramnios and usually
left hemithorax with shift of after routine prenatal 16 weeks
mediastinum to the right. Please USG. Many cases are therefore
note the absence of the intestinal diagnosed postnatally.
gas. CDH is suspected in newborn • In antenatally diagnosed cases,
who presents with scaphoid all infants should be intubated at
abdomen, respiratory distress, birth. Bag and mask resuscitation
cyanosis and dextrocardia with is contraindicated.
history of polyhydramnios. • Factors associated with better
Figure 1.5.1: Congenital diaphragmatic hernia The differential diagnosis of prognosis are herniation after
Photo Courtesy: Naveen Bajaj, Ludhiana
X-ray includes congenital cystic 2nd trimester, absence of liver
adenomatoid malformation herniation, coexisting cardiac
(CCAM), cystic pulmonary anomalies and late onset of
interstitial emphysema and postnatal symptoms.

staphylococcal pneumonia with • Priority is in stabilization followed
pneumatocele formation. by surgery.
Congenital Lobar Emphysema (CLE)

Radiograph shows large lucent • Airtrapping occurs within
left hemithorax with lower lobe one or more lung lobes at
compressed inferomedially with birth producing obstructive
the shift of mediastinum to the emphysema which may be due
opposite side. Differential diagnosis to a malformation, a cyst in the
of large lucent hemithorax includes bronchus, or a mucus/meconium
pneumothorax, CAM I, obstructive plug in the bronchus.
hyperinflation like CLE, vascular • Bronchoscopy may be
anomaly, or compensatory performed to remove any
Figure 1.5.2: Congenital lobar emphysema
emphysema seen with contralateral obstructive material or rupture a
Photo Courtesy: Naveen Bajaj, Ludhiana agenesis, hypoplasia or collapse. bronchogenic cyst.
In CLE, left upper lobe is most • Pulmonary resection is usually
commonly involved followed by the necessary.
right upper lobe and middle lobe. • Overzealous bag and mask/
Cardiac anomalies are frequently mechanical ventilation as
seen in neonatal CLE. well as insertion of intercostal
drain following misdiagnosis
as pneumothorax may result
into tension pneumothorax.
Under this situation, immediate
thoracotomy with lung resection
is the only option.
18
ET Position
Radiograph shows the tip of ET • Clinically, the rule of 7-8-9 is
tube at the level of C5 vertebra. Tip useful for ET positioning: Tip to
of tube should normally be just lip measurement: add 6 to the
above the carina (i.e. between T1 to newborn’s weight in kg.
T3). Determination of placement • Neutral position of the head is a
of ET tube after intubation is done pre-requisite while taking X-ray
clinically first and confirmed by films. With the flexion of the
chest radiograph. The position can head, the tube may move into
be confirmed by following both of right main bronchus and into the
the mainstem bronchi back to the neck with extension.
carina and cephalad to the tip of
the tube. The ET tube should also • Ventilation with malpositioned
be positioned with the bevel in an tube damages the lungs.
Figure 1.5.3: ET Position

anterior placement to avoid bevel
Photo Courtesy: Ruchi Nanavati, Mumbai abutting against the tracheal wall
with head movement or position
changes.
NEC Stage II
The picture depicts bubbly or Loss of normal symmetric pattern
cystic gas pattern within the walls of bowel gas distribution leading
(submucosal) of small intestine to asymmetrical or disorganized
described as pneumatosis pattern is early radiological sign of
intestinalis which is a radiologic NEC.
hallmark of serious NEC. There may be relative paucity of gas
It denotes Stage IIa by Bell’s staging in one area with dilatation in other.
criteria. The films may reveal bowel wall
Subserosal gas is seen as curvilinear edema, fixed position bowel loop on
shadows. serial radiographs.
Figure 1.5.4: NEC Stage II

Photo Courtesy: Amit Jagtap, Mumbai
Pneumoperitoneum
Radiograph shows football GI perforation is the indication for
abdomen with gas under surgical intervention. In extremely
both the leafs of diaphragm sick infants, peritoneal drainage
indicating pneumoperitoneum. may be the only option.
The most common cause of Isolated intestinal perforation may
pneumoperitoneum in preterm present with pneumoperitoneum
neonates is NEC. without other clinical signs.
Figure 1.5.5: Pneumoperitoneum

19
Pneumothorax
X-ray shows free air in right • Diagnosis is suspected in infant
hemithorax with collapse of the with unexplained desaturations,
underlying lung towards hilum. deterioration or sudden
There are absent air markings distal collapse. Absent or decreased
to the lung shadow, increased airentry on one side with shift of
intercostal distance, flattening of mediastinum to the opposite side
the dome of diaphragm on right clinches clinical diagnosis.
side with shift of mediastinum to • Diagnostic tap in the
the opposite side suggesting tension second intercostal space or
pneumothorax. Symptomatology transillumination is bedside tool.
is depending upon the degree and With mediastinal shift, intercostal
severity of pneumothorax. drain is required.
Figure 1.5.6: Pneumothorax
Photo Courtesy: Sankaranarayanan
Krishnamoorthy, Salford
Postextubation Collapse
X-ray shows homogeneous opacity Commonly seen in very low

in the right upper lobe with upward body weight (VLBW) infants
shift of transverse fissure and who are directly extubated to
compensatory overinflation of lower oxyhood. Positioning and chest
lobes suggesting collapse of right physiotherapy resolves the lesion in
upper lobe. majority.
Right upper lobe is the most
common site of postextubation
collapse as right main bronchus
is in direct communication with
trachea and right upper lobe has
Figure 1.5.7: Postextubation collapse less collaterals.
Tracheoesophageal Fistula
Radiograph depicts the coiling of the • It is a life-threatening neonatal
feeding tube in esophagus suggesting surgical emergency. A high
a blind pouch with presence of index of suspicion is required for
intestinal gas (Fig. 1.5.8A). In most diagnosis.
cases, the upper esophagus ends • The defect is confirmed by X-ray
and does not connect with the lower by inserting an 8F rigid red rubber
esophagus and stomach. The top catheter through nose or mouth
A B
end of the lower esophagus connects till felt resistance to define the
to the trachea. Common symptoms level of upper pouch (Fig. 1.5.8B).
Figures 1.5.8A and B: Tracheoesophageal fistula
include drooling, coughing, gagging, Absence of a gastric bubble
choking or cyanosis with attempted indicates esophageal atresia
feeding soon after birth. History without a tracheoesophageal
of polyhydramnios in mother fistula.
or absence of stomach gas on
20 prenatal ultrasound strengthens the
diagnosis.
USG Skull-IVH
The US brain parasagittal view • Because one half of IVH
shows >50% of the ventricular are clinically silent, routine
area, distending the lateral ultrasound screening should
ventricle suggestive of grade III be performed on all infants less
IVH. Presentation occurs within than 30 weeks gestation or with
first 5 postnatal days and may risk factors, at 7 to 14 days and
be clinically silent, salutatory or 36 to 40 weeks post-menstrual
catastrophic. Risk factors in addition age to detect IVH, periventricular
to prematurity include vaginal leukomalacia (PVL) and
delivery, intrapartum asphyxia, ventriculomegaly.
respiratory distress syndrome, • A grading of severity is assigned
Figure 1.5.9: USG Skull-IVH
Photo Courtesy: Pradeep Suryawanshi, Pune
hypoxemia, acidosis, pneumothorax based upon the location and
and seizures. extent of IVH.
1.6 NEWBORN SCREENING

Hearing Screening
The picture shows a newborn Early hearing detection and
undergoing a hearing screen by intervention (EHDI) is essential to
otoacoustic emission method. maximize linguistic competence
This is done in a quiet room with and literacy development in
sedation ensuring the ears are clean children with hearing impairment.
with one ear tested at a time. If the • Screen all newborns by 1 month
test result is abnormal, complete of age
evaluation including diagnostic • Diagnose hearing loss by 3 month
BERA, impedence audiometry and of age
Figure 1.6.1: Hearing screening
free-field audiometry is warranted. • Link the infant to intervention by
Behavioral audiometry is done only 6 month of age
if screening facilities not available. Infants with any degree of bilateral
JCIH recommends ABR technology or unilateral permanent hearing
as the only appropriate screening loss is considered eligible for early
technology in NICU. intervention (EI).
Hypoglycemia Screening
The screening is done for “at • Hypoglycemia is a common
risk” newborn viz-IUGR, infant metabolic disorder. A
of diabetic mother, outborns, hypoglycemic infant requires
sepsis, postexchange transfusion, meticulous management and
etc. A heel prick capillary sample search for underlying cause.
with value < 40 mg% suggests • These infants are at risk for
hypoglycemia and warrants occipital infarcts, seizures and
treatment pending venous sample neurodevelopmental sequelae.
testing by glucose oxidase method
in lab which is confirmatory.
Figure 1.6.2: Hypoglycemia screening 21

Metabolic Screening
Newborn screening for several Metabolic screening is just
metabolic disorders is done by not testing but incorporates
heel prick with sample taken confirmation, counseling, follow-up
on filter paper. The commonly and long-term management.
screened metabolic disorders
include congenital hypothyroidism,
galactosemia, cystic fibrosis,
congential adrenal hyperplasia and
G6PD deficiency.
Figure 1.6.3 Metabolic screening

Retinopathy of Prematurity (ROP) Screening

Screening for ROP is done bedside • Retinopathy of prematurity (ROP)
using an indirect ophthalmoscope is a developmental vascular
by a specialist ophthalmologist proliferative disorder that occurs

(using topical drops for pupillary in retina of preterm infants with
dilatation and local anesthesia). incomplete retinal vascularization
Screening should be performed in • The incidence and severity of
all preterm neonates (< 34 weeks) ROP increase with decreasing
and/or < 1750 gm birth weight at gestational age and birth weight.
four weeks postnatal age.
• Treatment is indicated for high-
Figure 1.6.4: ROP screening risk prethreshold and threshold
Photo Courtesy: Pradnya Deshmukh, Aurangabad
disease to prevent blindness.
1.7 HUMANE NEONATAL CARE

Developmentally Supportive Care
The picture shows a preterm Research indicates that babies
baby being nested—provided who are cared for using the
boundaries for comfort and individualized developmental
containment—while receiving care approach have fewer medical
ongoing care in NICU. This is one complications, shorter stays in the
of the intervention practiced while hospital, better weight gain and
rendering DSC to neonates. Other better developmental outcomes.
measures include Kangaroo care,
clustering of activities, calming
Figure 1.7.1: Developmentally supportive care
measures following procedures,
reducing noise and light exposure
along with family centered
care. It encompasses integrated
developmental care interventions
individualized for each baby and
environmental changes to make
NICU “baby friendly”. The purpose
is to lessen the negative effects of
22 hospital care and minimize the
stress newborns experience.
Kangaroo Care
The picture shows a preterm baby • KC should be started as soon as
in NICU being placed in vertical the baby is stable. Mother acts as
position with direct skin-to-skin at a source of warmth, nutrition and
mothers chest between her breasts. multimodal stimulation. Skin-to-
The head is covered and baby is skin contact promotes lactation
nursed in Kangaroo bag supported and facilitates the feeding
by mother. Kangaroo Care (KC) is interaction.
a low cost, comprehensive method • KC should be continued till
of care for stable low birth weight baby reaches 40 weeks post
(LBW) infants. In KC, the baby is conceptional age or attains
breastfed exclusively. KC fosters weight of 2500 gm.
the baby’s health and wellbeing by
promoting effective thermal control, • KC should be practiced at all
Figure 1.7.2: Kangaroo care levels of neonatal care. It is
Photo Courtesy: Ruchi Nanavati, Mumbai breastfeeding, infection prevention
and bonding. important to realize that KC is not
a poor man’s choice but ideal way
of humanizing sophisticated care
imparted at tertiary level units.
23
Section 2
Growth and Development
Section Editor
KN Agarwal, MKC Nair
Photo Courtesy
Anju Seth, KN Agarwal, MKC Nair
2.1 Physical Growth Stages during First-Five Years of Life

2.2 Common Errors in Growth Measurements
2.3 Graphs Related to Growth
2.4 Development Assessment
Section Outline
2.1 PHYSICAL GROWTH STAGES DURING FIRST-FIVE YEARS 2.3 GRAPHS RELATED TO GROWTH 30
OF LIFE 27 ♦ Birthweight Percentiles for Gestation in Rural India 30
♦ Nutritional Status of Indian Children (NFHS-3,
2.2 COMMON ERRORS IN GROWTH MEASUREMENTS 28 2005-2006) 31
♦ Common Errors in Recording Length 28 ♦ Height in Relation to Genital Development and Age in
♦ Common Errors in Recording Height 29 Affluent Indian Boys 31
♦ Common Errors in Recording Head Circumference 30 2.4 DEVELOPMENT ASSESSMENT 32

2.1 PHYSICAL GROWTH STAGES DURING FIRST-FIVE YEARS OF LIFE
Babies: By the Age of 1
• Grasping and sucking reflexes
• Make discoveries with objects (like shaking a toy/rattle)
• Roll a ball and throw objects
• Crawl, roll over, and sit and stand up (without support) catch a ball
• Build a tower of blocks
• Make clay into balls, house, and other objects.
Toddlers: By the Age of 2

• Walk forwards, backwards, and move more easily
• Pick-up toys from a standing position
• Push and pull objects
• Walk-up and downstairs (with help)

• Balance and hand-eye coordination improves
• Grasp, hold, and throw a small ball
Children: By the Age of 3

• More comfortable with moving and coordination
• Run forward and jump up and down
• Stand on one foot (with help)
• Use and control small objects better
• Draw and paint circles
• Roll, pound, squeeze, and pull clay

• Ability to move and balance improves
• Run around objects and walk on a line
• Balance on one foot
• Push and pull toys and ride a tricycle
• Throw

• More physically confident
• Walk backwards and jump on one foot
• Jump forward many times without falling
• Walk up and downstairs (without help)
• Do somersaults
• Use safety scissors and print a few letters
27
2.2 COMMON ERRORS IN GROWTH MEASUREMENTS
Common Errors in Recording Length

Figure 2.2.1A shows incorrect The recumbent length in children
method as head is not touching the below 2 years of age can be correctly
fixed board. measured on an infantometer by
Figure 2.2.1B incorrect method as two persons. The child should be
feet are not at right angles to the placed in supine position on the
lower legs. infantometer with his/her knees
extended completely and feet at
Figure 2.2.1C correct method.
right angles to the lower legs. Baby’s
head is held against the fixed board,
while the sliding board is moved
A closely to touch the heals. The
length is read from the scale.
Figures 2.2.1A to C: Common errors in

recording length
Photo Courtesy: Anju Seth, New Delhi
28
Common Errors in Recording Height
Figure 2.2.2A incorrect method as Height for children above 2 years

child has worn footwear. of age can be measured by a wall-
Figure 2.2.2B incorrect method mounted scale with least count
as feet are not placed parallel to of 0.1 cm and a small moveable
ground with heels touching against horizontal arm that can slide up and
the wall. down on the scale. A child should
stand without shoes and socks
Figure 2.2.2C incorrect method as
with feet parallel on an even flat
head is not held in Frankfurt plane.
platform, stretching upward to the
Figure 2.2.2D incorrect method as fullest, arms hanging on the sides;
head is not held in Frankfurt plane. and buttocks and heels touching
Figure 2.2.2E correct method of against the rod. The head should
recording height. be held comfortable, erect with
lower border of the orbit of the eye
in the same horizontal plane as the

A B
external canal of the ear (Frankfurt
plane). The horizontal arm of the
device is gently lowered to the top
of the head and height read from
the scale.
C D
E
Figures 2.2.2A to E: Errors in recording height
29
Common Errors in Recording Head Circumference
Figure 2.2.3A incorrect method as The head circumference is measured

tape is not passing over supraorbital by passing the measuring tape over
margins in the front. the occipital protuberance of the
Figure 2.2.3B incorrect method as head at the back and supraorbital
tape is not passing over the occipital margins in the front. The objective
protuberance at the back. is to record the maximum head
circumference.
Figure 2.2.3C correct method of
recording head circumference.
A
Figures 2.2.3A to C: Errors in recording head

circumference
2.3 GRAPHS RELATED TO GROWTH

Birthweight Percentiles for Gestation in Rural India
As seen in the graph, the fetal weight gain is severely
affected in rural undernourished women, being 5 to
53 g during 36 to 41 weeks of gestation.
Figure 2.3.1: Birthweight percentiles for gestation in rural India

30 Photo Courtesy: Agarwal et al. Birthweight patterns in rural undernour-
ished pregnant women. Indian Pediatrics. 2002;39:244-53 (Reproduced
with permission)
Picture Note
Nutritional Status of Indian Children (NFHS-3, 2005-2006)

As seen in the graph, the proportion of stunted or
underweight children increases rapidly with the child’s
age through age 20 to 23 months. Undernutrition in
early life continues to affect puberty and adolescence.
Figure 2.3.2: Nutrition status of Indian children (NFHS-3, 2005-2006)

Height in Relation to Genital Development and Age in Affluent Indian Boys
As seen in the graph, boy at 14 years in genital Stages
2, 3, 4 and 5 has height of 151 cm, 157 cm, 162 cm and
165 cm respectively, the mean height being 157 cm.
Thus during pubescence, child’s anthropometry can be
assessed in relation to their sexual maturity.
Figure 2.3.3: Height in relation to genital development and age in affluent

Indian boys
Photo Courtesy: KN Agarwal et al. Physical growth assessment in adolescence.
Indian Pediatrics. 2001;38:1217-35 (Reproduced with permission)
31
2.4 DEVELOPMENT ASSESSMENT

• Gross motor skills: The In case of developmental delay,
development of large muscles and parents should be counseled.
large muscle movements such as Early interventions (i.e. speech,
rolling, scooting, crawling, and language therapy, occupational
walking. These are usually the therapy, physical therapy, special
A first skills that babies and toddlers educational services) can improve
master. the quality of life for both the child
• Fine motor skills: The and family.
development of the smaller
muscles in the hands and feet
which allow for tasks such as
B
grasping, cutting, buttoning and
writing. Children often do not
develop fine motor skills until well
into the toddler or early school
years, and some experts believe
that boys lag a little behind girls in
C
this area.
• Coordination: The development
of a sense of balance as well as the
ability to put together multiple
physical activities for actions such
as twisting, catching, reaching and
eating. Again, the development
D of coordination and balance will
differ in each child.
Development can be assessed by
• Good history regarding birth
weight, perinatal events and post-
natal achievements of milestones.
• Keen observation, without
actually formally examining
E
the child. The gross and fine
motor milestones, speech, social
behavior and play should be
evaluated.
Figures 2.4A to G: (A) 6 weeks—Head at level

can change side; (B) 8 weeks—Lifts head above
the body; (C) 12 weeks—Lifts head and chest;
(D) 6 months—Sits with support; (E) 9–10 months—
32 Stands with support; (F) 44 weeks—Creeps;
(G) 6–12 weeks—Fixes and follows light
Photo Courtesy: MKC Nair, Kerala
Section 3
Nutrition
Section Editor
Meenakshi Mehta
Photo Courtesy
Adsul BB, RM Chaturvedi, Dheeraj Shah,
Meenakshi Mehta, Pallavi Shelke
3.1 Malnutrition Burden

3.2 Protein-Energy Malnutrition (PEM) and Nutrient Deficiencies
3.3 Nutrition Education
3.4 Amylase Rich Foods (ARF): The Magic
Section Outline
3.1 MALNUTRITION BURDEN 35 ♦ Malnourished Child 41
♦ A Nutrition Crisis Amid Prosperity 35 ♦ Nutrition Education: Eating Balanced Food for Good
♦ Etiology of Malnutrition—Spider’s Web 35 Growth 41
♦ Malnutrition—Cause of Poor Learning Ability 35 ♦ Nutrition Education: Foods Rich in Vitamin A, Dairy
♦ Poverty Redefined 36 Products and Vegetables, Fish 41
♦ Poverty—Curse for Malnutrition 36 ♦ Prevention of Kwashiorkor 42
♦ The Iceberg of Malnutrition 36
3.4 AMYLASE RICH FOODS (ARF): THE MAGIC 42
3.2 PROTEIN-ENERGY MALNUTRITION (PEM) AND NUTRIENT ♦ ARF—The Miracle of Germinated Cereal Powders 42
DEFICIENCIES 37 ♦ ARF—The Possible Solutions 42
♦ Dermatosis of Kwashiorkor 37 ♦ ARF—The Concept 43
♦ Kwashiorkor 37 ♦ ARF—Source from Germinated Cereals 43
♦ Marasmic Kwashiorkor 37 ♦ ARF—Step 1 43
♦ Marasmus 38 ♦ ARF—Step 2 44
♦ Micronutrient Deficiency 38
♦ ARF—Step 3 44
♦ Rachitic Rosary 39
♦ ARF—Step 4 44
♦ Radiological Changes of Scurvy 39
♦ ARF—Step 5 45
♦ Vitamin A Deficiency 39
♦ ARF—Step 6 45
♦ Vitamin A Deficiency 40
♦ ARF—Step 7 45
3.3 NUTRITION EDUCATION 40 ♦ ARF—Step 8 46
♦ Child Nutrition: Infant Milk Food Unsafe—Etiology of ♦ ARF—Step 9 46
PEM 40 ♦ ARF—Decrease in Viscosity after Adding ARF 46
♦ Health Education Program 40 ♦ ARF—The Magic of ARF 47
3.1 MALNUTRITION BURDEN
A Nutrition Crisis Amid Prosperity

Malnourished kids are seen in Comprehensive Welfare Schemes
urban slums of wealthy Mumbai, like National Nutrition Programs,
Maharashtra. ICDS, IMNI, RCH and MCH
This is probably due to the Services will help.
A B
increasing prices of essential foods,
unemployment, over population,
poverty, restricted water supply and
sanitation and recurrent morbidity.
C D
Figures 3.1.1A to D: A nutrition crisis amid

prosperity
Source: Hindustan Times
13th and 14th October, 2011
Etiology of Malnutrition—Spider’s Web
The various causes: bad budgeting, All the aspects have socioeconomic
desire for prestige, bottle-feeding, background and will have to
diarrhea, stopping breast milk, be tackled together to prevent
poor weaning and alcoholism, all malnutrition.
are linked with each other to cause
PEM.
Figure 3.1.2: Etiology of malnutrition—

Spider’s web
Photo Courtesy: Meenakshi Mehta, Mumbai
Malnutrition—Cause of Poor Learning Ability

As per UNESCO’s Global Monitoring Elimination of malnutrition is
Report 2008 malnutrition impairs the only answer for optimal brain
brain development affecting the development and educational
educational aspects of about 46% achievement.
of children in South Asia including
India. As per the latest National
Family Health Survey, India reduced
malnutrition only by a percentage
point to 46% since 1998, while its
economy grew by over 9%.
Figure 3.1.3: Malnutrition—cause of poor 35

learning ability
Source: Hindustan Times, 25th November, 2011
Poverty Redefined
Poverty line: Official level of income Extremely difficult to eliminate
necessary to buy basic things poverty and unemployment unless
Deprivation: The lack or denial of government projects on wide scale
something considered essential. are implemented.
Hence, poverty is the main cause of
malnutrition.
Figure 3.1.4: Poverty redefined

Source: Hindustan Times, 19th August 2008
Poverty—Curse for Malnutrition

Highest incidence of national Malnutrition cannot be eliminated

poverty is directly proportional to unless the root cause, i.e. poverty is
malnutrition in India. eliminated.
Figure 3.1.5: Poverty—curse for malnutrition

Source: Times of India, 27th August, 2008
The Iceberg of Malnutrition

Iceberg of malnutrition has only Early diagnosis and treatment of
1/10th, i.e. severe cases are brought mild malnutrition and prevention of
for medical care, whereas 9/10th are progressing to severe forms.
moderate and mild cases of PEM are
distributed in community, unless
attended and likely to deteriorate
and hence are dangerous.
Figure 3.1.6: Iceberg of malnutrition

Source: Meenakshi Mehta, Mumbai
36
3.2 PROTEIN-ENERGY MALNUTRITION (PEM) AND NUTRIENT DEFICIENCIES
Dermatosis of Kwashiorkor
The dermatosis of kwashiorkor No specific treatment of dermatosis.
are varied, mainly on lower limbs Improves with treatment of
and lower abdomen and include kwashiorkor.
patchy erythema, areas of hypo/
hyperpigmentation, desquamation
A
followed by depigmentation and
exposing dermis, resembling
“Flaky Paint Dermatosis”, “Mosaic
dermatosis”. In severe cases,
petechiae and ecchymoses may
appear.
Figures 3.2.1A and B: Dermatosis of

kwashiorkor
Kwashiorkor
PEM due to predominant protein Right from postweaning phase
deficiency compared to calorie ensure proper administration
deficiency. Common age 1 year to of adequate food both quality/
3/4 years. Characterized by general quantity wise, treatment of diarrhea
edema, pallor, apathy, irritability, and other complications if any,
occasionally dermatosis and hair preventive immunizations.
changes associated with anorexia
and diarrhea.
Figure 3.2.2: Kwashiorkor

Marasmic Kwashiorkor
Patient has combined Dietary management involves
manifestations of marasmus and administration of both protein and
kwashiorkor, i.e. wasting of whole calories with Type I and Type II
body with edema of lower limbs and nutrients, i.e. micronutrients.
rarely upper limbs.
Figure 3.2.3: Marasmic kwashiorkor
37
Marasmus
PEM due to predominant calorie Right from weaning phase, 6
deficiency. Common age 6 months months onwards, proper care
to 3/4 years. Characterized by of quantity and quality of food
thin, severely undernourished/ intake, prevention of micronutrient
wasted child, loss of subcutaneous deficiencies, immunization and
fat, absence of edema, deworming.
A
hepatosplenomegaly, alert look, in
advanced cases wasting of muscles,
delayed growth.
Figures 3.2.4A and B: Marasmus

Severe form of undernutrition Stepwise management involves:

resulting in marked muscle wasting, • Treatment of complications, e.g.
loss of subcutaneous fat, skeleton hypoglycemia, infections.
like look. Child appears alert.
• Initiation of dietary therapy
involving F–75.
• Energy dense feeding during
recovery phase.
• Follow-up care.
Figure 3.2.5: Marasmus

Photo Courtesy: Dheeraj Shah, Delhi
Micronutrient Deficiency
• Angular stomatitis: During health • The children were given the
check-up of students of a tribal micronutrient supplements
school in taluka Shahpur, district riboflavin and multivitamins.
Thane. Disease due to deficiency Health education regarding the
of micronutrients are commonly nutrition was also provided with.
A B
Figures 3.2.6A and B: Micronutrient deficiency
seen in tribal children. In this • The child was treated with
Photo Courtesy: Rural Health Training Center, picture, a male child with angular iron and multivitamins. The
Vaitarna, Department of Community Medicine, stomatitis is shown. It occurs due nutritional health education was
LTMM College and General Hospital, Sion, to deficiency of riboflavin.
Mumbai (for both photos) given for long-term benefit.
• Pale and Fissured tongue: Another
student had deficiency of iron and
38 vitamin B2 and B3.
Rachitic Rosary
Prominence of costochondral Treatment of vitamin D deficiency
junctions resulting from rickets involves administration of
accumulation of unmineralized 600,000 U of vitamin D orally or
matrix in vitamin D deficiency intramuscularly. Adequate intake
(Rickets). of vitamin D and calcium should be
Rachitic rosary has more rounded ensured during follow-up besides
appearance in comparison to adequate exposure to sunlight.
scorbutic rosary where angulation is
sharp and may be tender.
Figure 3.2.7: Rachitic rosary

Radiological Changes of Scurvy

Changes of scurvy are most Oral administration of vitamin C 100 to
prominently seen around knee. 300 mg/day for up to 12 weeks.
The metaphysis of long bones show
dense white line (WL) of Frankel.
Zone of rarefaction or Trummerfeld
zone (TZ) is seen in submetaphysial
region. The extension of WL over
TZ produces appearance of a spur
which is called Pelkan spur (PS).
Figure 3.2.8: Radiological changes of scurvy

Vitamin A Deficiency
In this picture, a tribal school For treatment vitamin A was given
student is having phrynoderma or orally. 2,00,000 IU was given on 0,1
toad skin which is a sign of vitamin and 14 days along with the dietary
A deficiency. advice to consume the locally
available vitamin A enriched food
like drumsticks, papaya and ripe
mangoes.
Figure 3.2.9: Vitamin A Deficiency

Photo Courtesy: Rural health training center,
Vaitarna, Department of Community Medicine,
LTMM College and General Hospital, Sion,
Mumbai
39
Vitamin A Deficiency
1) In first picture, a tribal school Under national program
student is having ‘Bitot’s spot’ which for prevention of Blindness
is a sign of vitamin A deficiency. the prophylactic vitamin A
2) In second picture, a case of supplementation is given up to 5
‘Xerophthamia’ is seen. The patient years of age to prevent the vitamin A
had come for treatment in Urban deficiency.
A
Health Center, Dharavi. For treatment, vitamin A was given
Prophylactic vitamin A orally and the patient was referred
supplementation is given every 6 to ophthalmology for further
months to children below 5 years of management.
age under universal immunization Immediately on diagnosis
program to prevent deficiency
< 6 months 50,000 IU
disorder.
6–12 months 1,00,000 IU
B Starting at 9 months with measles as
Figures 3.2.10A and B: Vitamin A Deficiency a first dose : 1,00,000 IU > 12 months 2,00,000 IU
Photo Courtesy: Rural Health Training Center, At 15 months : 2,00,000 IU Next day and at least 2 weeks
Vaitarna, Deptartment of Community Medicine,
later: Same age specific dose.

LTMM College and General Hospital, Sion, Every 6 monthly up to the age of
Mumbai (for both photos) 5 years : 2,00,000 IU
3.3 NUTRITION EDUCATION

Child Nutrition: Infant Milk Food Unsafe—Etiology of PEM
Bottle-feeding in uneducated Avoid bottle-feeding, instead
families, in poor socioeconomic advice fresh animal milk with
circumstances, unhygienic cup/wati, spoon/“bondla”,
environment with restricted water when supplementary feeding is
supply leads to recurrent morbidity, advocated.
malnutrition and finally death.
Figure 3.3.1: Child nutrition: Infant milk food

unsafe
Health Education Program

Health education session is being The department of community
carried out during breastfeeding medicine is carrying out the
week. health educational activities in the
community to spread the awareness
regarding malnutrition. This is
A
effective tool to bring about the
community participation.
Figures 3.3.2A and B: Health Education Program

Photo Courtesy: Urban health center, vaitarna,
40 Department of Community Medicine,
Mumbai (for both photos)
Malnourished Child
Malnutrition is commonly seen in The child was referred to Nutritional

infants after 5 to 6 months of age. The Rehabilitation Center (NRC) run
child in picture had come to Urban in Urban Health Center (UHC),
Health Center, Dharavi for treatment. Dharavi.
Health education about weaning
food was given. Emphasis was
A
given to inclusion of energy rich
semisolid food—NRC, UHC,
Dharavi. Under ICDS program,
anthropometric measurements
are taken on monthly basis by
Anganwadi worker to identify cases
of malnutrition.
B
Figures 3.3.3A and B: Malnourished child
Photo Courtesy: Urban health center, Dharavi,
Department of Community Medicine,
Mumbai (for both photos)
Nutrition Education: Eating Balanced Food for Good Growth

Shows how children grow well The teaching of nutrition must
by eating proper balanced diet stress that there is a connection
covering all food groups between good and proper food for
growing tall, strong and healthy.
Figure 3.3.4: Eating balanced food for

good growth
Nutrition Education: Foods Rich in Vitamin A, Dairy Products and Vegetables, Fish
Shows foods rich in vitamin A: Dairy Advice adequate consumption
products, eggs and dark green leafy from these foods as per the socio-
vegetables, pappaya and carrots, fish economic status of the family.
A B
and other vegetables.
C D
Figures 3.3.5A to D: Foods rich in vitamin A,

dairy products and vegetables, fish
41
Prevention of Kwashiorkor
Shows three plank protein bridge Judicious use of breast milk
in order of priority: (1) Prolonged (proteins), vegetable and animal
breast feeding, (2) Use all proteins starting from six months
available vegetable proteins, (3) onwards—postweaning phase to
Use all available animal proteins about 2 to 3 years of age by the
whenever possible, to prevent child time the child has full adult diet to
developing kwashiorkor. prevent the child falling in the river
of kwashiorkor.
Figure 3.3.6: Three plank protein bridge for

prevention of malnutrition
3.4 AMYLASE RICH FOODS (ARF): THE MAGIC

ARF—The Miracle of Germinated Cereal Powders

The problem: Vast majority of Porridges/gruels treated with ARF
infants (after 6 months of age and will have decreased viscosity, less
onwards) develop malnutrition bulky, hence the children will be
because of weaning with bulky, able to consume more and will have
viscous yet low nutritious porridges/ more calories.
gruels of cereals consumed in
different communities. The infants
are unable to consume the gruels in
adequate amount per feeding and
hence get less calories.
Figure 3.4.1: The miracle of germinated cereal

powders
Photo Courtesy: Meenakshi Mehta, Romeen
Lavani, Mumbai
ARF—The Possible Solutions

The solutions: To increase the Amongst the solutions suggested,
calories, of the feed the alternative the first 3 methods are commonly
solutions are: employed hence the germination
1. Addition of oil of cereals producing amylase, a
less known method yet, simple and
2. Fermentation
cheap, is demonstrated here.
3. Increasing ingredients
4. Germination of cereals and
adding the product/powder to
the main gruel.
Figure 3.4.2: ARF—The possible solutions
42 Photo Courtesy: Meenakshi Mehta
Romeen Lavani, Mumbai
ARF—The Concept
Alpha-amylase is the liquefying Thus, this liquefied treated gruel is
enzyme that breaks down long consumed more by the infant and
chain carbohydrates of all cereals indirectly increases the calories per
into short chain dextrin. Hence, feed.
this decreases the viscosity and the
bulk of the cereal gruel/feed. Thus,
germinated cereal flour which are
extremely rich in a-amylase are
able to thin-cooked cereal gruels in
catalytic amounts.
Figure 3.4.3: ARF—The concept
Photo Courtesy: Meenakshi Mehta,
ARF—Source from Germinated Cereals

Shows time taken for proper Use the fully germinated wheat
germination of different cereals, after 48 hours for the next step of
wheat, pearl millet, sorghum and preparation.
maize, wheat having the least time
taken. “Lokwan” wheat gave best
A B yield of amylase activity at 48 hours.
C D
Figures 3.4.4A to E: (A) Wheat 6-8 hours;

(B) Wheat 48 hours; (C) Pearl millet 72 hours;
(D) Sorghum 72 hours; (E) Maize 96 hours.
ARF—Step 1
1. Select wheat, clean debris and After this step of soaking of wheat,
wash. go to the next step of germination.
2. Add sufficient water (3 × vol. of
grains), cover, leave for 6 to 12
hours.
A B
Figures 3.4.5A and B: ARF—Step 1

Photo Courtesy: Meenakshi Mehta, 43
ARF—Step 2
• Drain excess water These are steps in the preparation
• Wrap in a clean wet cloth. of ARF. After this process of
germination, go to the next step of
fully germinated wheat.
A B

ARF—Step 3
• Keep covered in a cool dark place After this process of germination of
• Sprinkle water every 6 to 8 hours wheat, go to the next step of fully

to keep the cloth moist. germinated wheat.
A B

ARF—Step 4
We had selected “Lokwan“ Wheat Shows how to germinate wheat for
as amongst the varieties of wheat, it maximum amylase activity.
yielded maximum ARF.
1. Soaked wheat after 6 to 8 hours
2. Germinated wheat after 48 hours.

44
ARF—Step 5
1. After above respective hours, It is essential to dry the germinated
open the germinated cereal from wheat because any remaining
cloth and put for preliminary moisture may spoil the amylase
drying in air/sun for 1 to 2 hours activity.
with occasional stirring .
A 2. Final drying: In sun for 6 hours in
bright sunlight or light roasting
on low flame in a thick-bottomed
kaddai to make completely dry.

ARF—Step 6
1. Final drying: Light roasting on low As the shoots contain cyanide, it is
flame in mud tawa. essential to remove them.
2. Manually remove all roots and
shoots on a sieve.
Figure 3.4.10: ARF—Step 6

ARF—Step 7
1. Milling by hand pounding or To get the amylase activity the

2. Milling in an electric grinder. germinated dried wheat, rich in
amylase activity has to be powdered
so that the amylase rich powder can
be used conveniently for the gruel.
A

Romeen Lavani, Mumbai 45
ARF—Step 8
Fill the ARF powder in polythelene ARF powder should be stored
bag and keep this bag in a wide moisture proof to prevent
mouth, screwcap bottle. It is deterioration of amylase activity.
essential that the ARF powder
should be kept moisture proof.
The powder retains its activity for
4 to 6 weeks preserved at room
temperature.

ARF—Step 9
1. Roast the dry ingredients with oil To use ARF, add 1 to 2 gm of

to desirable color and aroma ARF powder to 100 to 200 gm of
2. Add water and jaggery multigrain cereal pulse porridge/
gruel to thin/decrease viscosity so
3. Take the pan off the fire, add ARF.
that the child is able to consume
Stir well for 10 min for ARF to act.
more and thus has more calories
Bring the contents to boil on fire,
and proteins.
stirring continuously. Cool to
serve. ARF can also be added as ARF powder should be added
the boiled gruel is cooled. when the gruel/porridge is almost
cooked.

ARF—Decrease in Viscosity after Adding ARF

Both the graphs show decrease Decreased viscosity decreases bulk
in the viscosity of the gruel after and helps in more consumption of
adding ARF. gruel.
Figure 3.4.14: Decrease in viscosity after

adding ARF
46
ARF—The Magic of ARF

Share the magic of ARF to increase Besides, the cost of this ARF
the weight and quality of health by powder is < Rs. 30 to 40 lasting for
feeding the child with ARF treated the whole month. Thus, the ARF
gruel. treated porridges/gruels will help in
increasing the energy intake.
Figure 3.4.15: The Magic of ARF

47
Section 4
Infectious Diseases
Section Editors
Jaydeep Choudhury, Nupur Ganguly
Photo Courtesy
Arun Shah, Atul Kulkarni, Dipankar Das, Jaydeep Choudhury,
Nupur Ganguly, Prabhas Prasun Giri, Priyankar Pal,
Ritabrata Kundu, Sandipan Dhar, Swapan Kumar Ray
4.1 Common Conditions

4.2 Uncommon Conditions but not Rare
4.3 Infectious Disease Emergencies
4.4 Syndromes
Section Outline
4.1 COMMON CONDITIONS 51 4.1.3 Parasites 58
4.1.1 Bacterial Infections 51 ♦ Malaria 58
♦ Erythema Nodosum 51 ♦ Pediculus Humanus Capitis 59
♦ Scarlet Fever 52
♦ Scabies 59
♦ Scrofuloderma 52 4.2 UNCOMMON CONDITIONS BUT NOT RARE 59

♦ Septic Arthritis 53 ♦ Brucellosis 59
4.1.2 Viral Infections 53 ♦ Leptospirosis 60

♦ Rickettsia 60
♦ Chickenpox 53
♦ Cytomegalovirus 54 4.3 INFECTIOUS DISEASE EMERGENCIES 61
♦ Dengue 54 ♦ Kawasaki Disease 61
♦ Enterovirus 54 ♦ Purpura Fulminans 61
♦ Herpes Simplex Virus 55 ♦ Staphylococcal Scalded Skin Syndrome 62
♦ HIV 55
4.4 SYNDROMES 62
♦ Measles 56
♦ Lipodystrophy in HIV 62
♦ Mumps 56 ♦ Post-Kala-Azar Dermal Leishmaniasis (PKDL) 63
♦ Rabies 57 ♦ Recurrent Bacterial Meningitis 63
♦ Rubella 57 ♦ Stevens-Johnson Syndrome (SJS) 63
4.1 COMMON CONDITIONS
4.1.1 Bacterial Infections
Erythema Nodosum
Erythema nodosum (EN) is an In most patients, erythema
acute, nodular, erythematous nodosum is a self-limited disease
eruption that is usually limited to and requires only symptomatic
the extensor aspects of the lower relief using nonsteroidal anti-
legs. Chronic or recurrent erythema inflammatory drugs (NSAIDs),
nodosum is rare but may occur. cool-wet compresses, elevation,
Erythema nodosum is presumed bed rests, and identification and
to be a hypersensitivity reaction treatment of the underlying cause.
which may occur in association
with several systemic diseases, drug
Figure 4.1.1.1: Erythema nodosum, in the shin
therapies, or it may be idiopathic.
bone The inflammatory reaction occurs in
Photo Courtesy: Prabhas Prasun Giri, Kolkata the panniculus.
Lesions begin as red tender nodules

(Fig. 4.1.1.1). Lesion borders are
poorly defined, and lesions vary
from 2 to 6 cm in diameter. During
the first week, lesions are tense,
hard, and painful; during the second
week, they may become fluctuant,
as in an abscess, but do not
suppurate or ulcerate. Individual
lesions last approximately 2 weeks,
but occasionally, new lesions
continue to appear for 3 to 6 weeks.
Aching legs and swollen ankles may
persist for weeks.
Streptococcal infections and
primary tuberculosis are one of the
most common causes of erythema
nodosum.
51
Scarlet Fever
It is characterized by: • Penicillin is the first choice
• Sore throat treatment, since Group A beta-
hemolytic streptococci (GABHS)
• Fever
remains universally susceptible
• Bright red tongue with a to penicillin. Although penicillin
“strawberry” appearance V is the drug of choice, ampicillin
• Rash or amoxycillin are equally
Rash is fine, red, and rough- effective and, due to the good
textured, blanches on pressure. It taste, represent a suitable option
appears 12 to 48 hours after the in children. Moreover, penicillin
fever usually starting on the chest, suspension is not commercially
armpits, and behind the ears but available in our country, so
sparing the face (although some amoxycillin is usually prescribed.
A
circumoral pallor is characteristic). • The standard duration of
It is worse in the skin-folds. Pastia antibiotic therapy is 10 days.
lines (where the rash runs together To improve the patient’s
in the armpits and groin) appear compliance one should explain
and can persist after the rash is the importance of the complete
gone. The rash begins to fade treatment (10 days) to eradicate
three to four days after onset and the bacterium even if, clinical
desquamation (peeling) begins. improvement occurs in the first 4
B This phase begins with flakes to 5 days of treatment. Macrolides
Figures 4.1.1.2A and B: (A) Scarlet fever peeling from the skin. Peeling from are used in patients who are
showing strawberry tongue and characteristic the palms and around the fingers allergic to beta-lactam antibiotics.
disquamation of the skin; (B) Strawberry tongue
closer view
occurs about a week later. Peeling
Photo Courtesy: Nupur Ganguly also occurs in axilla, groin, and tips
Prabhas Prasun Giri, Kolkata of the fingers and toes.
Scrofuloderma
Scrofuloderma, also called Antitubercular drug for the total
‘tuberculosis colliquativa cutis’ duration of 6 months which is
is a common form of cutaneous divided into initial two months
tuberculosis affecting children intensive phase and continuation
and young adults in which there phase of four months is
is breakdown of skin overlying a recommended.
tuberculous focus in the lymph
node, bone or joint. Initially, these
are firm painless, subcutaneous
nodules that gradually enlarge and
suppurate. These lead to ulcers and
Figure 4.1.1.3: Scrofuloderma in the left
cervical lymph node sinus tracts with undermined edges
Photo Courtesy: Sandipan Dhar, Kolkata and ultimately puckered scars.
Diagnosis is usually performed
by needle aspiration biopsy or
excisional biopsy of the mass with
microbiological demonstration of
acid-fast bacteria. PCR has a low
52
sensitivity but high specificity.
Septic Arthritis
The most common causative The treatment of septic arthritis is
organism is Staphylococcus mainly nonoperative. Surgery is
aureus. In septic arthritis, different indicated only for drainage of pus.
organisms predominate in different Treatment is supportive for pain and
age groups. Staphylococcus dehydration, splintage, antibiotics
aureus, Streptococcus agalactiae therapy and surgical decompression.
and Escherichia coli are the Analgesics and fluids are used for
most frequent causes of acute pain and dehydration, the limb is
hematogenous infection in splinted for comfort and to prevent
infants. Staphylococcus aureus, contractures and antibiotics are
A
Streptococcus pyogenes and commenced empirically. Drugs
Haemophilus influenzae are can be changed when culture and
common in children below the age sensitivity results become available.
of four years. The duration and routes of antibiotic
therapy have traditionally been 1 to
2 weeks intravenously followed by
3 to 6 weeks of oral therapy. Some

literature suggest a shorter duration
of therapy is efficacious. Generally,
however, sequential intravenous—
B oral therapy is the accepted
Figures 4.1.1.4A and B: (A) Septic arthritis in standard. Appropriate intravenous
multiple joints; (B) X-ray shows bony erosion therapy should be continued until
in the lower end of the femur and upper end of there is clinical improvement and
the tibia.
Photo Courtesy: Priyankar Pal the CRP levels approach normal.
Prabhas Prasun Giri, Kolkata Oral therapy is then commenced
and continued until the ESR
normalizes.
4.1.2 Viral Infections

Chickenpox
Prodromal symptoms are fever, • Treatment is mainly symptomatic
malaise, anorexia and headache. and supportive. Paracetamol is
The rash typically begins as crops of given for fever. Aspirin should
small, red papules which develop be avoided as it may increase
into clear “tear-drop” vesicles on an the risk of Reye’s syndrome.
erythematous base. They become Antihistaminics reduce pruritus.
cloudy and dry up forming scabs • Acyclovir is safe, effective,
A which fall off in 5 to 15 days. Various but it is not routinely
stages of the rash may be seen at the recommended in uncomplicated
same time. Lesions are more on the infection. It is indicated in
trunk, back and shoulders and are immunocompromised children.
pruritic. Rarely, the rash becomes Varicella zoster immunoglobulin
B
hemorrhagic. The condition (VZIG) provides passive
generally improves within 7 days. immunity and is indicated for
Figures 4.1.2.1A and B: (A) Characteristic rash
of chickenpox; (B) Neonatal chickenpox postexposure prophylaxis.
Photo Courtesy: Jaydeep Choudhury
Sandipan Dhar, Kolkata
53
Cytomegalovirus
Cytomegalovirus (CMV) infection Gancyclovir combined with
is severe in immunocompromised. immunoglobulin, either
The features are pneumonitis, intravenous immunoglobulin
hepatitis, chorioretinitis with fever (IVIG) or hyperimmune CMV-IVIG.
and leukopenia. It may be fatal.
Retinitis is progressive.
Figure 4.1.2.2: Chorioretinitis in

cytomegalovirus (CMV) infection
Photo Courtesy: Prabhas Prasun Giri, Kolkata
Dengue
Dengue hemorrhagic fever Adequate fluid replacement is
Stage I – Fever, nonspecific the backbone of severe dengue

symptoms and positive tourniquet therapy. Sufficient fluid should be
test administered to maintain effective
circulation during plasma leakage.
A B Stage II – Stage I + spontaneous
Isotonic cystolloid solution in the
Figures 4.1.2.3A and B: Dengue hemorrhagic bleeding
fluid of choice but with hypotensive
fever Stage III – Circulatory failure, rapid
Photo Courtesy: Arun Shah, Muzaffarpur
shock (decompensated shock)
weak pulse, hypotension and colloid solutions are to be used.
narrow pulse pressure. Blood transfusion are reserved for
Dengue shock syndrome cases of severe bleeding.
Stage IV – Profound shock with
unrecordable BP.
Enterovirus
Hand-foot-and-mouth disease is a Only symptomatic therapy is
distinctive rash syndrome caused by required.
enteroviruses. It is most frequently
caused by coxsackie virus.
Scattered vesicles are seen on the
A B
tongue, buccal mucosa, posterior
pharynx, palate, gingival and
lips with surrounding erythema.
Maculopapular, vesicular and
pustular lesions may also occur on
the hands, fingers, feet, buttock and
groin. Vesicles resolve in about one
week.
Figures 4.1.2.4A to C: Erythematous

maculopapular lesions seen in hand-foot-and-
54 mouth disease
Photo Courtesy: Sandipan Dhar, Kolkata
Herpes Simplex Virus

Aggregates of thin-walled vesicles Oral acyclovir is the mainstay of
on an erythematous base. These therapy.
rupture, scab and heal within
7 to 10 days without leaving a scar.
Secondary bacterial infection may
occur. The lesion tend to recur
at the same site particularly at
mucocutaneous junction. It is a
common cause of gingivostomatitis
in children, appear abruptly with
pain and salivation.
Figure 4.1.2.5: Oral herpetic lesion

Photo Courtesy: Priyankar Pal, Kolkata

HIV
HIV disease progression is Various antiretroviral drugs act on
variable. Some develop profound different steps in HIV replication.
immunodeficiency. HIV/AIDS Combination ART therapy using
can affect all the systems of the triple drug combination of
body and the manifestations may nucleoside reverse transcriptase
be varied. Revised WHO clinical inhibitors (NRTI), non-nucleoside
A B staging of HIV/AIDS are: reverse transcriptase inhibitors
Stage 1 – Asymptomatic (NNRTI) and protease inhibitors
has changed the quality of life for
Stage 2 – Mild
HIV-infected children. Treatment
Stage 3 – Advanced of opportunistic infections is an
Stage 4 – Severe integral part of therapy. Proper
The typical opportunistic infections nutrition and immunization are
are Pneumocystis carinii (PCP) also vital.
C
or jiroveci, oral candidiasis and
tuberculosis.
Figures 4.1.2.6A to D: (A) Warts in HIV

infection; (B) Oral candidiasis; (C) Severe
herpes zoster skin lesion; (D) Chest X-ray
showing Pneumocystis carinii (PCP) or jiroveci
infection.
Photo Courtesy: Sandipan Dhar
Jaydeep Choudhury, Kolkata
55
Measles
Prodromal symptoms are fever, Management is mainly supportive.
malaise, coryza, cough and The child may be given antipyretics,
conjunctival congestion for 2 to 4 fluids and antihistaminics during
days. Temperature rise abruptly as acute phase. No antiviral therapy is
rash appears on 4th to 6th day. The available. The child may be isolated
rash starts as faint erythematous for the period of infectivity. There
maculopapules on upper lateral is an inverse correlation between
aspect of neck and typically behind serum retinol concentration and
the ears and increasingly involve measles severity. A single dose
face then trunks and finally to of vitamin A 100,000 units orally
legs and arms over next 3 to 4 for children 6 to 12 months of age
days. By the time, rash appears and 200,000 units orally for more
on feet it starts disappearing than 1 year of age children reduces
from face. Temperature also mortality.
suddenly normalizes. As the rash
disappears it leaved behind brawny
Figure 4.1.2.7: Characteristic rash of measles desquamation and brownish

Photo Courtesy: Jaydeep Choudhury, Kolkata discoloration.
Mumps
Parotitis of one or both parotid There is no specific treatment.
glands is the most common Symptomatic treatment includes
manifestation. Earache, jaw simple analgesics.
tenderness with chewing, and
dry mouth worsens over the next
several days. The swelling is at the
angle of the jaw, and obliterates the
angle, often extending to the lower
portion of the ear. Defervescence
and resolution of parotid tenderness
takes about a week.
Figure 4.1.2.8: Parotid gland enlargement
in mumps
Photo Courtesy: Jaydeep Choudhury, Kolkata
56
Rabies
Lacerated wound over face and • Do not suture in category III
scrotum in a child due to dog bite. bites. If absolutely necessary,
There are two distinct clinical forms loose sutures only along with
of rabies: instillation or injection of rabies
immunoglobulin (RIG).
(1) Furious type—Seen in 80% cases,
characterized by hydrophobia, • Nursing care, symptomatic
A B
erophobia and aggressiveness therapy with sedatives,
Figures 4.1.2.9A and B: Animal bite injuries leading to coma and death. analgesics, proper hydration
in face and scrotum: Dangerous category III and intensive therapy are some
exposure (2) Dumb or paralytic type—This
Photo Courtesy: Late Tapan Kumar Ghosh, main steps of the treatment of
is seen in 20% cases characterized
Kolkata rabies patients. Rabies should
by progressive onset of ascending
be prevented by vaccination
paralysis.
(Pre-exposure prophylaxis) and
Note the category III multiple bite proper precaution following
wounds over face. exposure by wound care, rabies

immunoglobulin and vaccine
administration.
Rubella
Retroauricular, posterior No specific antiviral therapy is
cervical and postoccipital available for rubella. Antipyretics
lymphadenopathy. Discrete rose- are used for symptomatic relief.
colored spots on the soft palate
(Forchheimer spots) may be seen
initially. Skin rash starts on face and
spreads rapidly over trunk and is
discrete maculopapular but quite
A
variable in size and confluence.
In pregnant women, rubella virus
can cross the placenta and infect
the developing embryo or the fetus
resulting in various congenital
malformations. Classically, the
congenital rubella syndrome (CRS)
B
includes a triad of malformations—
Figures 4.1.2.10A and B: (A) Neonate cataract, sensorineural hearing loss
presenting with petechiae over body; (B) X-rays
of limbs show alternate longitudinal bands and congenital heart disease, most
of sclerosis and radiolucency in metaphyses, commonly patent ductus arteriosus
particularly around distal tibial metaphyses, (PDA).
giving rise to so called Celery-Stalk appearance.
Photo Courtesy: Swapan Kumar Ray, Kolkata
57
4.1.3 Parasites
Malaria
Both thin and thick smear should Treatment regimes are to be tailored
be prepared. Thickness of the thick (with chloroquine or artemisinin
film should be uniform, which may combination therapy) according
be ascertained by the legibility of to the species and specifically
printed text seen through the slide. according to the resistance pattern
Thick films are nearly 10 times more of the region under consideration.
sensitive for diagnosis of malaria as
larger amount of blood are there in a
given area as compared to thin film.
A Thick film is also used for parasite
load detection and thin film is used
for species identification. Smears
should be prepared soon after
blood collection, which ensures
better adherence of the films to
the slide and causes minimal

distortion of parasites and red
B
cells. Stage of parasite can also be
ascertained in the peripheral blood.
In general, prognosis worsens with
predominance of more mature
parasite stage. If more than 50% of
the peripheral blood parasite are at
the tiny ring stage (diameter of the
nucleus <50% of the diameter of the
rim of cytoplasm), the prognosis is
relatively good. Presence of pigment
C
containing asexual parasite of
P. falciparum indicates bad
prognosis. The presence of malaria
pigment in polymorphonuclear
leukocyte are diagnostic of malaria.
A minimum of 100 fields should be
examined before concluding the
slide to be negative.
Figures 4.1.3.1A to D: (A) Preparation of thick

and thin blood film; (B) Thick film showing
numerous malaria parasites; (C) Schizont in a
thin blood smear; (D) Falciparum ring form
Photo Courtesy: Ritabrata Kundu, Kolkata
58
Pediculus Humanus Capitis

It is caused by infestation of the Treatment consists of application
scalp with pediculus humanus of gamma benzene hexachloride
capitis. (1%) or malathion (0.5%) or
permethrin (1%). Gamma benzene
hexachloride and malathion should
be applied at night and left for 10
to 12 hours and washed off in the
morning. Permethrin should also be
applied for 30 to 45 min and washed
off. Repeat application after a week
is desirable. All family contacts and
Figure 4.1.3.2: Infestation of the scalp with
pediculus humanus capitis.
close friends should be treated to
Photo Courtesy: Sandipan Dhar, Kolkata prevent reinfection.
Scabies
Lesions of scabies in infant are Permethrin (5%) is the treatment of

more extensive vesicular and choice in infants and children. It is
vesicopapular. Eczematization is even safe in infants as young as
often present and there may be 2 months. The contact time is 6 to
multiple crusted nodules on the 8 hours in infants 12 to 14 hours in
trunk and limbs. children. If needed, then it may be
repeated after two weeks.
Figure 4.1.3.3: Characteristic vesicopapular

scabies lesion in axilla
Photo Courtesy: Sandipan Dhar, Kolkata
4.2 UNCOMMON CONDITIONS BUT NOT RARE

Brucellosis
The classical triad is fever, arthralgia • Combination therapy is ideal.
and hepatosplenomegaly. Monotherapy: It has high relapse
Constitutional symptoms like rate. Needs prolonged therapy
anorexia, asthenia, fatigue, to penetrate the intracellular
weakness, and malaise are very pathogen.
common. Bone and joint symptoms • Above 8 years: Doxycycline +
A
are arthralgias, low back pain, Rifampicin orally for 4 to 6 weeks
spine and joint pain. Headache, or Doxycycline 4 to 6 weeks +
depression and fatigue are the most Streptomycin/Gentamicin IM for
frequently reported. 1 to 2 weeks.
• Below 8 years: Trimethoprim-
B
Sulfamethoxazole + Rifampicin
Figures 4.2.1A and B: (A) Hepatosplenomegaly orally for 4 to 6 weeks.
in brucellosis; (B) USG showing multiple
splenic abscess in brucellosis
Photo Courtesy: Nupur Ganguly, 59
Leptospirosis
The features are high fever with Leptospira is susceptible to beta-
chills, myalgia mainly of calf, lactam antibiotics, macrolides,
abdomen and lumbar region. Severe tetracycline and fluoroquinolones.
headache, bilateral conjunctival
suffusion, usually in palpebral
conjunctiva are seen. Skin rash is
red, non-blanching and transient.
There may be pretibial erythema.
Hepatosplenomegaly may be
present.
Figure 4.2.2: Conjunctival suffusion in
leptospirosis
Photo Courtesy: Nupur Ganguly
Rickettsia
The classical triad is headache, Doxycycline and chloramphenicol
fever and rash. The rash is rose-red are the two time-tested drugs in
blanching macules, spreads rapidly patients of all ages. Other drugs
to involve entire body including are azithromycin, clarithromycin,
soles and palms. It may become fluoroquinolones and rifampicin.
petechial or hemorrhagic.
Initially, presents with anorexia,
myalgia, and arthralgia.
A
Splenomegaly and hepatomegaly
may be present. Convulsions, ataxia,
meningism, coma, myocarditis,
acute renal failure, pneumonitis
with acute respiratory distress
syndrome (ARDS) may also be
present.
B
Figures 4.2.3A to C: Characteristic lesion of

rickettsial disease over face, palm and sole.
60 Photo Courtesy: Atul Kulkarni, Solapur
4.3 INFECTIOUS DISEASE EMERGENCIES
Kawasaki Disease
Fever, bilateral non-exudative Standard therapy is IVIG with
conjunctivitis, erythema of lips aspirin, during the acute phase of
and oral mucosa, changes in illness intravenous immunoglobulin
the extremities, rash, cervical (IVIG) (2 gm/kg) and aspirin 80 to
A B
lymphadenopathy, coronary artery 100 mg/kg/day. Continue high dose
aneurysms or ectasia: 15 to 25%, aspirin until day 14 of illness, if still
myocardial infarction, sudden afebrile. Continue aspirin
death, ischemic cardiac disease in 3 to 5 mg/kg/day until no evidence
untreated. of coronary changes by 6 to 8 weeks.
C D
Figures 4.3.1A to D: (A) Kawasaki disease—

acute phase—BCG reactivation; (B) Kawasaki
disease—acute phase; (C) Kawasaki disease—
Subacute phase; (D) Kawasaki disease—
convalescent phase—Beau’s line

Purpura Fulminans
A 5 years old girl presented with Treatment is mainly by removing
meningococcemia with purpura the underlying cause and degree
fulminans. Fever and features of of clotting abnormalities and
sepsis. with supportive treatment
Purpura fulminans (also known as (antibiotics, volume expansion,
purpura gangrenosa). tissue oxygenation, etc.). Thus,
treatment includes aggressive
It is a life-threatening disorder of
management of the septic
acute onset. It is characterized
state. Surgical debridement,
Figure 4.3.2: Cutaneous hemorrhage and by cutaneous hemorrhage and
necrosis seen in pupura fulminans. escharotomies, fasciotomies, and
necrosis (tissue death), small vessel
Photo Courtesy: Prabhas Prasun Giri, Kolkata even amputations. In many cases,
thrombosis and disseminated
digits may need to be amputated
intravascular coagulation. Common
when their blood supply has ceased.
causes are severe infection
The use of full dose heparin or other
(especially with Meningococcus, and
anticoagulant is controversial.
Capnocytophaga canimorsus, and
other gram-negative organisms),
and deficiency of the natural
anticoagulants protein C or protein
S in the blood. In some cases, a
cause is never found.
61
Staphylococcal Scalded Skin Syndrome

Staphylococcal scalded skin Treatment is eradication of
syndrome (SSSS) is caused by an staphylococci from the focus of
epidermolytic toxin producing infection and thus terminating
strain of staphylococci belonging the production of toxin. Topical
to phase group II. In the initial antibiotics are ineffective. For
phase, it produces a generalized methicillin sensitive Staphylococcus
A macular erythema and a fine aureus one can use cloxacillin,
stippled, sandpaper or nutmeg-like clindamycin, cefazolin. Penicillin,
appearance which progresses to and cephalosporin allergic patient
tender scarlitiniform phase over 1 to should receive vancomycin as
2 days. The erythema progresses all initial therapy. For methicillin
over the body. The lesions exfoliate, resistant staphylococcal aureus
exudes and crusts around the (MRCA), the drug of choice is
mouth and periorbital area. Large vancomycin plus gentamycin.
fragments of crusts separates and Other drugs which can be used are
within 2 to 3 days the upper layer trimethoprim sulfamethoxazole,
B of the epidermis becomes wrinkled linezolid, quinupristin-dalfopristin,
and can be easily peeled off. If there fluoroquinolone. Parenteral

Figures 4.3.3A and B: (A) Erythematous is no secondary skin infection the medication is indicated in case of
exfoliate lesions seen in staphylococcal
scalded skin syndrome; (B) Closer view of the skin heals without scarring within serious infection and those who are
same lesion 14 days of the onset of the disease. severely ill.
4.4 SYNDROMES
Lipodystrophy in HIV
Lipodystrophy, commonly known Treatment with antiretrovirals.
as fat redistribution, is a condition
characterized by degenerative
and abnormal functioning of
the adipose tissue present in an
individual’s body. Patients suffering
from lipodystrophy generally
experience loss of fat from selective
regions of the body; however, the
face, arms and the back are the most
A commonly affected regions by this
disease.
Figures 4.4.1A and B: Lipodystroply seen in

the face and back
62 Photo Courtesy: Prabhas Prasun Giri, Kolkata
Post-Kala-Azar Dermal Leishmaniasis (PKDL)

Post-kala-azar dermal leishmaniasis Spontaneous resolution may take
develop later following visceral weeks to years and usually results
leishmaniasis when all the parasites in a flat atrophic scar. Treatment
are not eradicated. It is seen in 20 is indicated if the lesions are
to 30 percent of cases. The parasites disfiguring, are persistent, or if the
proliferate locally giving rise to lesions are known to be or might
erythematous papule, which evolves be caused by species that might
to become a nodule with shallow disseminate to nasopharyngeal or
ulceration and raised borders. pharyngeal mucosa.
It is commonly seen in face and
Figure 4.4.2: Dermal Leishmaniasis seen in
the face
extremities.
Photo Courtesy: Arun Shah, Muzaffarpur
Recurrent Bacterial Meningitis

Recurrent bacterial meningitis is Work-up for immunodeficiency and

two or more episodes of meningitis treatment of the cause.
with a greater-than-3-week interval
after the completion of therapy
A B
for the initial episode caused by a
different bacterial organism. Or a
second or further episode caused by
the same organism with a greater-
than-3-week interval after the
completion of therapy for the initial
episode. Here the cause of recurrent
C meningitis is frontal encephalocele,
Figures 4.4.3A to C: (A) Frontal encephalocele;
nasal dermal sinus, and dorsal
(B) Nasal dermal sinus;
(C) Dorsal dermal sinus dermal sinus. Bacteria can migrate
Photo Courtesy: Dipankar Das, Kolkata along congenital preformed
pathways or acquired tissue
planes to gain entrance into the
subarachnoid space or undiagnosed
immunodeficiency can render the
host defenses as inadequate barriers
to potential bacterial pathogens.
Stevens-Johnson Syndrome (SJS)

Stevens-Johnson syndrome (SJS) All the children should be
are manifested by erythema admitted. Offending drug should
multiforme like lesions, typically be stopped. Thermoneutral
known as target lesions. Oral and environment (30-32°C)
mucosal erosion and ulcerations are should be maintained. Role of
seen in 100% cases. Skin blisters and corticosteroid is controversial.
erosion affects body surface area. Injection methylprednisolone or
Fever and myalgia may be present. dexamethasone may be given.
Healing process may take about two Antihistamines and analgesics
weeks. may give some symptomatic relief. 63
Figure 4.4.4: Erythema multiforme like lesions Proper skin care is very important.
in Stevens-Johnson syndrome (SJS) Topical emollients and antibiotics
Photo Courtesy: Arun Shah, Muzaffarpur may give some relief.
Section 5
Neurology
Section Editors
PAM Kunju, Anoop Verma
Photo Courtesy
Anandakesavan, Anoop Verma, PAM Kunju, Ritesh Shah

5.3 Neurologic Emergencies
5.4 Syndromes
Section Outline
5.1 COMMON CONDITIONS 67 5.2 UNCOMMON CONDITIONS BUT NOT RARE 80
♦ Anterior Encephalocele 67 ♦ Anencephaly with Large Meningocele 80
♦ Arnold-Chiari Malformation-Chiari II 67 ♦ Dandy-Walker Syndrome 80
♦ Arnold-Chiari Malformation-Chiari III—Posterior ♦ Facioscapulohumeral Muscular Dystrophy-1 80
Encephalocele 67 ♦ Facioscapulohumeral Muscular Dystrophy-2 81
♦ Spina Bifida Occulta/Spina Bifida Cystica 68 ♦ Glutaric Acidemia Type I 81
♦ Brachial Plexus Birth Injury 68 ♦ Glutaric Acidemia Type I—MRI 81
♦ Basal Exudates Meningitis 68 ♦ Hallervorden-Spatz Disease 82
♦ Bell’s Palsy 69 ♦ Hallervorden-Spatz Disease—MRI 82
♦ Coarse Facies and Dysostosis Multiplex—MPS 69 ♦ Hemimegalencephaly—Linear Nevus Sebaceous
♦ Coarse Facies and Umbilical Hernia—Congenital Syndrome—MRI 82
Hypothyroidism 69 ♦ Hemimegalencephaly—Linear Nevus Sebaceous
♦ Conjunctival Telangiectasia 70 Syndrome 83
♦ Corpus Callosum Agenesis—Devil’s Horn 70 ♦ Heterotopia 83
♦ Corpus Callosum Agenesis—Axial CT 70 ♦ Periventricular Nodular Heterotopia 83
♦ Corpus Callosum Agenesis 71 ♦ Schizencephaly 84
♦ Diplegic CP—Commando Crawl 71 ♦ Hydranencephaly 84
♦ Diplegic CP—Scissoring 71 ♦ Lissencephaly 84
♦ Diplegic with Convergent Squint 72 ♦ Metachromatic Leukodystrophy (MLD) 85
♦ Choreoathetoid CP 72 ♦ Myopathic Facies 85
♦ Hemiplegic CP—Cerebral Infarct 72 ♦ Radial Nerve Palsy 86
♦ Hemiplegic CP—Cover Test 73 ♦ Wilson’s Disease—Neurologic 86
♦ Duchenne Muscular Dystrophy (DMD)—Valley Sign 73
5.3 NEUROLOGIC EMERGENCIES 87
♦ Duchenne Muscular Dystrophy (DMD)—
Pseudohypertrophy 73 ♦ Cranial Auscultation—Vein of Galen Malformation
♦ Gratification Phenomenon (Masturbation) 74
(VGM) 87
♦ Hydrocephalus—Facies 74
♦ Decerebrate Rigidity and Decorticate Rigidity 87
♦ Hydrocephalus—Postmeningitis 74
♦ Imaging in Herpes Encephalitis 87
♦ Japanese Encephalitis 88
♦ Hydrocephalus—Aqueductal Stenosis 75
♦ Medulloblastoma with Acute Hydrocephalus 88
♦ Benign Childhood Epilepsy with Centrotemporal Spikes
♦ Pseudohypoparathyroidism 88
(BCECTS) 75
♦ Silver Beaten Appearance—Increased ICP 89
♦ Lennox-Gastaut Syndrome—EEG 75
♦ Subarachnoid Hemorrhage 89
♦ Lennox-Gastaut Syndrome—Tonic Seizure 76
♦ Uncal Transtentorial Herniation 89
♦ Mesial Temporal Sclerosis (MTS) 76
♦ Microcephaly 76 5.4 SYNDROMES 90
♦ Myasthenia Gravis 77 ♦ Apert Syndrome—Facies 90
♦ Oculogyric Spasm 77 ♦ Cherry Red Spot 90
♦ Rett Syndrome 77 ♦ Cornelia de Lange Syndrome 90
♦ Ring Enhancing Lesion 78 ♦ Cornelia de Lange Syndrome 91
♦ Sturge-Weber Syndrome 78 ♦ Fundus—Choroid Tubercles 91
♦ Sturge-Weber Syndrome—MRI, CT 78 ♦ Hypomelanosis of Ito 91
♦ Tuberous Sclerosis—MRI 79 ♦ Incontinentia Pigmenti 92
♦ Tuberous Sclerosis—Skin 79 ♦ Miller-Dieker Syndrome 92
♦ West Syndrome EEG—Hypsarrhythmia 79 ♦ Xeroderma Pigmentosum 92
Anterior Encephalocele
Encephalocele: Sac protruding Repair of encephalocele and
through defect in cranium. It decompression surgery. Prognosis
contains CSF filled meningeal sac depends on severity of the defect.
and portions of the brain.The defect
occurs most commonly in the
occipital region and rarely frontal
(Fig. 5.1.1A) or nasofrontal region
A B (Fig. 5.1.1B).
Figures 5.1.1A and B: Anterior encephalocele
Photo Courtesy: Anandakesavan, Thrissur
Arnold-Chiari Malformation-Chiari II
Cervical myelomeningocele Chiari II malformations are
(Fig. 5.1.2A) with MRI showing decompressed with suboccipital
vermis, pons, medulla and fourth craniectomy, multilevel cervical
ventricle displacement in to the laminectomy, duraplasty,
cervical canal (Fig. 5.1.2B). and arachnoid dissection.
ACM II is diagnosed during Manage hydrocephalus and
antenatal ultrasound study to myelomeningocele accordingly.
childhood. Associated commonly Look for associations—needs
A B
with lumbar myelomeningocele and regular follow-up, VP shunt care.
Figures 5.1.2A and B: Cervical myelomeningo-
cele with ACM II
hydrocephalus.
Photo Courtesy: PAM Kunju, Trivandrum
Arnold-Chiari Malformation-Chiari III—Posterior Encephalocele

Type III involves an occipito- Repair of encephalocele and
cervical bony defect with decompression surgery.
herniation of cerebellum into
the encephalocele. Most are
incompatible with life.
A B
Figures 5.1.3A and B: Posterior encephalocele

and ACM II
67
Spina Bifida Occulta/Spina Bifida Cystica

(Fig. 5.1.4A) Spina bifida occulta: In occulta look for associations like
Child may be asymptomatic tethering of cord, syringomyelia
and lack neurologic signs. There and diastematomyelia. Recurrent
may be patches of hair, a lipoma, meningitis of occult origin should
discoloration of skin or dermal prompt careful examination for a
sinus. small sinus tract in the posterior
A B midline region, including the back
Figures 5.1.4A and B: (A) Spina bifida occulta;
(Fig. 5.1.4B) Meningocele of the head.
(B) Spina bifida cystica (meninges herniated through the
Photo Courtesy: Anandakesavan, Thrissur defect) or myelomeningocele.
Brachial Plexus Birth Injury

Complete Brachial plexus birth 90 to 95% children who are injured
injury with trophic changes—non during birth improve or recover
healing ulcer and callosities. Note by 3 to 4 months. Occupational
the right Horner (Fig. 5.1.5A). Even or physical therapy along with
though Erb’s palsy (Fig. 5.1.5B) is short course of prednisolone to
A the common birth injury affecting be given. The ability to bend the
brachial plexus, careful examination elbow (biceps function) by the
must be done to find additional root third month of life is considered an
involvement of a complete brachial indicator of probable recovery in
plexus palsy or to differentiate a Erb’s palsy. If not consider surgery
Klumpke’s paralysis. by 4 months. Neurolysis/sural
nerve graft, with intraoperative
EMG/SSEP studies to test the
damaged segments.
B
Figures 5.1.5A and B: (A) Complete Brachial

plexus with trophic changes; (B) Right Erb’s
palsy
Basal Exudates Meningitis

Plain (Fig. 5.1.6A) and contrast If less than 24 hours duration, no
(Fig. 5.1.6B) CT scan of head signs of raised intracranial pressure
showing enhancing exudates first perform lumbar puncture and
(black arrow). Note the developing start antibiotics. If signs of increased
hydrocephalus as the enlarging ICP or focal deficits give antibiotics
temporal horn of lateral ventricle without LP and then obtain a CT
(white arrow). Will be seen this scan. Empirical drugs—cefotaxime
A B much extend only in TBM. This CT (200 mg/kg/24 hr, q 6 hr) or
Figures 5.1.6A and B: Basal exudates (A) Plain is of pneumococcal meningitis. ceftriaxone (100 mg/kg/24 hr OD).
scan; (B) Contrast Treat increased ICP and associated
multiple organ system failure
68 (Shock, ARDS).
Bell’s Palsy
One of the most common • Facial palsy improves after
neurologic disorders affecting the treatment with combined oral
cranial nerves. Diagnostic criteria acyclovir and prednisolone.
include paralysis or paresis of all • Regular physiotherapy from
muscle groups on one side of the the beginning will help in
face, sudden onset, and absence improvement.
of central nervous system disease.
• Look for ear infection.
Acute onset of unilateral upper and
lower facial paralysis (over a 48 hour
period), posterior auricular pain,
decreased tearing.
Figure 5.1.7: Right low motor neuron (LMN)

facial palsy
Photo Courtesy: Anoop Verma, Raipur
Coarse Facies and Dysostosis Multiplex—MPS
Delayed development regression— • Diagnosis depends on the
Look for the coarse facies (Hurler associations.
phenotype), dysostosis multiplex • If seizures present investigate for
(beaking of vertebra. GM-1 gangliosidosis.
Note family history and frequent • If no seizures urine for MPS
RT infection/seizure. Other causes and try to type the MPS by
of coarse facies—chromosomal enzyme analysis. Symptomatic
A B anomaly, GM1 gangliosidosis, MPS, management and offer enzyme
Figures 5.1.8A and B: Hurler facies and etc. replacement (e.g. Hurler).
beaking of vertebra
Genetic counseling depending on
the diagnosis.
Coarse Facies and Umbilical Hernia—Congenital Hypothyroidism

Delayed development regression— Depends on diagnosis—Ultrasound
Look for the coarse facies and neck and thyroid function tests,
umbilical hernia. Note history skeletal survey, thyroxine to be
of neonatal jaundice and given as early as possible.
constipation Most common cause
for reversible treatable mental
retardation—Hypothyroidism.
Figure 5.1.9: Congenital hypothyroidism 69

Conjunctival Telangiectasia
Eight years boy with typical Vigrorous supportive therapy
conjunctival telangiectasia seen with particular attention to
in ataxia telangiectasia.They recurrent sinopulmonary infection.
appear also on exposed skin Treatment of neoplasia must
area like auricles, nasal bridge, proceed with caution as they are
etc. Ataxia telangiectasia is extremely sensitive to radiation and
most common inherited cause chemotherapy.
of early childhood onset ataxia
characterized by progressive
cerebellar ataxia, oculomotor
apraxia, oculocutaneous telangiec-
tasia, choreoathetosis, proclivity
Figure 5.1.10: Ataxia telangiectasia
Photo Courtesy: Ritesh Shah, Surat
to sinopulmonary infections and
lymphoreticular neoplasia.
Corpus Callosum Agenesis—Devil’s Horn

Facial features: • Symptomatic; Patients with

Frontal bossing and hypertelorism severe neuropsychiatric disorders
and often is associated with (developmental delay, autistic
divergent squint. features, mental retardation)
rehabilitative interventions
Clinical features:
include: speech therapy,
A B
Varies with mental retardation or physiotherapy, psychomotor
learning disabilities and epilepsy. therapy, occupational or
Figures 5.1.11A and B: Corpus Callosum
Agenesis—Devil’s Horn (A) Facies; (B) Sagittal In some it is clinically silent. educational therapy, parent
MRI Secondary destruction of corpus training and counseling for
callosum occurs with hypoxic teachers.
ischemic encephalopathy (HIE), • Manage seizure and other
surgery or infarcts. neurological problems.
Corpus Callosum Agenesis—Axial CT

Axial CT shows upward • Genetic counseling for syndromes
displacement of the third ventricle and antenatal diagnosis will help
and resultant Devil’s horn in management decision making.
appearance. • Antenatal diagnosis of agenesis of
corpus callosum is possible from
20 weeks gestation.
Figure 5.1.12: Corpus Callosum Agenesis—Axial

70 CT
Corpus Callosum Agenesis

Axial CT shows widely separated Look for other associations like
lateral ventricles with straight aicardi syndrome (+ infantile spasm
medical border, and enlargement of and retinal dysplasia), Andermann
posterior horn (Colpocephaly). sydrome (+ mental deficiency, and
Interhemispheric lipoma replacing peripheral neuropathy), trisomies 8,
part of the corpus callosum is 11, 13 and Glycine encephalopathy
associated with a high incidence of and institute management for same.
epilepsy.
Figure 5.1.13: Corpus callosum agenesis

axial CT
Diplegic CP—Commando Crawl
(Fig. 5.1.14A) Spastic diplegia For early ambulation continuous
is bilateral spasticity of the legs crawling to be avoided.
greater than in the arms. During
crawling uses the arms in a normal
reciprocal fashion but tends to drag
the legs behind more as a rudder
A B
(commando crawl) (Fig. 5.1.14B)
Figures 5.1.14A and B: (A) Diplegic CP—
Periventricular leukomalacia cause
Commando crawl; (B) Periventricular
leukomalacia of diplegia. Here seen as dilatation
Photo Courtesy: PAM Kunju, Trivandrum of lateral ventricle, ragged lateral
margins, and loss of white matter in
the periventricular area.
Diplegic CP—Scissoring
Spastic diplegia is bilateral spasticity • In diplegia early physiotherapy
of the legs greater than in the arms. by the mother to reduce adductor
Signs are: spasm, antispastic drugs like
1. Scissoring when child is baclofen, diazepam, tizanidine
suspended by the axillae. and appropriate splinting.
2. Application of a diaper is tough • Before fixed contractures develop
because of the adductor spasm. multilevel botulinum toxin
Seen in preterm with asphyxia or injection and physiotherapy
after intraventricular periventricular with abduction splint will help in
hemorrhage. Due to periventricular ambulation.
leukomalacia, particularly the area
where fibers innervating the legs are
affected.
Figure 5.1.15: Scissoring 71
Diplegic with Convergent Squint

Common sequelae in preterm Treatment by occlusion, corrective
asphyxia. Convergent squint glasses and surgery before one year
is an association of CP due to of age to prevent amblyopia.
prematurity.
Figure 5.1.16: Diplegic with convergent squint

Choreoathetoid CP
Extrapyramidal CP secondary to Exclude conditions like
kernicterus and acute intrapartum mitochondrial disorders and
birth asphyxic symmetric lesions glutaric aciduria. For chorea
in the posterior putamen and tetrabenazine, haloperidol. Trial of
ventrolateral thalamus, viz status LDOPA to exclude DOPA responsive
marmoratus dystonia. Deafness → hearing aid,
Athetoid Tetrad speech therapy, cochlear implant.
1. Choreoathetosis Alternate communication methods.
2. Upgaze palsy Physiotherapy Occupational
3. Deafness therapy, special schooling.
4. Enamel hypoplasia
Figure 5.1.17: Choreoathetoid CP

Hemiplegic CP—Cerebral Infarct

Brain CT scan in a child with Like spastic CP. Focal seizures can
hemiplegic CP—Right middle be controlled with carbamazepine/
cerebral artery territory wedge oxcarbazepine.
shaped porencephaly due to infarct.
Note the features of Dyke Davidoff
Mason syndrome = Hemiatrophy,
thickening of skull of right side.
Figure 5.1.18: Porencephaly right middle

72 cerebral artery territory
Hemiplegic CP—Cover Test

Early decreased spontaneous Like spastic CP. Left handed
movements on the hemiplegic side children (Rt sided Hemiplegic)
can be detected by the covering of should not be forced to write with
face and observing the child always right hand.
using one hand to remove the cover.
Figure 5.1.19: Hemiplegic CP—Cover test

Duchenne Muscular Dystrophy (DMD)—Valley Sign

Valley sign of DMD Treatment is aimed at sustaining
Infraspinatus and deltoid muscles ambulation and maximizing the
are enlarged and between them, quality of life. Corticosteroids such
the muscles forming the posterior as prednisolone and deflazacort at
axillary fold are wasted as if there is a dose of 0.6 mg/kg per day for the
a valley between the two mounts. first 20 days of the month. Add
daily vitamin D and calcium for
Example of selective muscle
osteoporosis. Beta 2-agonists
involvement (atrophy and hyper
may increase myocardial muscle
trophy)
strength. Mild, non-jarring physical
Valley sign help in differentiating activity such as swimming is
DMD/BMD from other progressive encouraged. Physical therapy
Figure 5.1.20: Valley sign of DMD neuromuscular disorders.
orthopedic appliances, etc. are
used as per the requirement. Gene
therapy like exon-skipping treatment
for certain mutations are on trial.
Duchenne Muscular Dystrophy (DMD)—Pseudohypertrophy

Calf muscle hypertrophy—DMD Treatment is aimed at sustaining
Example of selective muscle ambulation and maximizing the
involvement (atrophy and hyper- quality of life. Corticosteroids such
trophy). as prednisolone and deflazacort at
a dose of 0.6 mg/kg per day for the
Pseudohypertrophy of calf also seen
first 20 days of the month. Add
in juvenile SMA.
daily vitamin D and calcium for
osteoporosis. Beta 2-agonists
may increase myocardial muscle
strength. Mild, non-jarring physical
activity such as swimming is
encouraged. Physical therapy
orthopedic appliances, etc. are
used as per the requirement. Gene
Figure 5.1.21: Calf muscle hypertrophy—DMD therapy like exon-skipping treatment
Photo Courtesy: PAM Kunju, Trivandrum for certain mutations are on trial.
73
Gratification Phenomenon (Masturbation)

Self-stimulatory behavior in girls • Occurs during stress or boredom.
between the ages of 2 months and The examination should include
3 years. Stereotyped movements a search for evidence of sexual
of tonic posturing associated with abuse or UTI. Reassure that the
copulatory movements followed activity will subside and only
by flushing, grunting with no loss distraction and engagement is
of consciousness. This condition is sufficient.
more easily identified on video then • Piracetam 50 mg/kg is found to be
still image. beneficial.
Figure 5.1.22: Gratification Phenomenon

Hydrocephalus—Facies
Head enlargement, dilated scalp • Monthly head circumference
veins tense anterior fontanelle: measurement and if it exceeds

Open posterior fontanelle, setting more than 2.5 cm/month surgical
sun sign. consideration
• Medical: Acetazolamide and
furosemide
• Surgical: Ventriculoperitoneal
(VP) shunt
• Endoscopic third ventriculostomy
for obstructive hydrocephalus.
Figure 5.1.23: Hydrocephalus—Facies

Hydrocephalus—Postmeningitis
Notice the enlargement of all Early phase repeated lumbar
ventricles including fourth ventricle puncture; when CSF protein level
(arrow) and the filled up cisterns low with absence of infection and
and sulcii—a case of postmeningitis progressing, VP shunting.
hydrocephalus
A B
Seen in bacterial meningitis
including tuberculous meningitis.
C D
Figures 5.1.24A to D: Hydrocephalus—Post

74 meningitis
Hydrocephalus—Aqueductal Stenosis
CT scan shows enlargement of all • Ventriculoperitoneal shunt before
ventricles except fourth ventricle 6 months. Endoscopic third
(arrow). A case of Aqueductal ventriculostomy after age of six
A B stenosis. months.
Look for associations like neural • Shunting only if progressive and
tube defects, including spina bifida evidence of cortical compression
occulta, neurofibromatosis. present.
C D
Aqueductal gliosis; similar image–
causes: Neonatal meningitis or
a subarachnoid hemorrhage
in a premature infant, intra-
uterine viral infections, mumps
E F meningoencephalitis.
Figures 5.1.25A to F: Hydrocephalus due
to aqueductal stenosis
Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS)
This EEG shows spike from C3 and • Anticonvulsants should not be
T3 (Lt central and temporal ) leads prescribed automatically after the
with normal background. A case of initial convulsion. If recurrence
BCECTS—condition more common Carbamazepine (10-20 mg/kg/
in boys, usually starts during sleep day), for at least 2 years or until
with peak age 9 to 10 years. 14 to 16 years of age.
Symptoms: Perirolandic • Some may get aggravated; then
(Oropharyngeal)—starts as guttural try Sodium valproate (20-50
noises, unilateral paresthesias mg/kg/day). Common type of
of the tongue, cheek and tonic- childhood partial epilepsy with
clonic movement of lower face and excellent prognosis.
ipsilateral extremities and may
Figure 5.1.26: EEG Benign Childhood Epilepsy
proceed to secondary generalization.
With Centrotemporal spikes
Photo Courtesy: PAM Kunju, Trivandrum Many times this may cause
confusion with generalized epilepsy.
Lennox-Gastaut Syndrome—EEG
Interictal slow spike wave 1-2/sec Valproic acid or benzodiazepines

seen in Lennox-Gastaut syndrome. may decrease the frequency
Clinical feature—triad of: (1) or intensity of the seizures.
Intractable seizures of various types Lamotrigine, topiramate and
(Stare-Atypical absence, fall-tonic levetiracetam may be useful.
seizure, Jerk—myoclonic) (2) A slow Selected cases—the ketogenic diet
spike wave EEG during the awake should be considered for patients
state, and (3) Mental retardation. whose seizures are refractory
Begins in the third/fourth year of to anticonvulsants. Corpus
life or may be continuation of west callosotomy will help in reducing
syndrome. the drop attacks.
Figure 5.1.27: EEG—slow spike wave 75
Lennox-Gastaut syndrome
Lennox-Gastaut Syndrome—Tonic Seizure

Tonic seizure: One of the Corpus callosotomy surgery will
commonest type of seizure in reduce tonic seizures.
Lennox-Gastaut syndrome in
addition to the Triad (Stare-Atypical
absence, fall-atonic seizure, Jerk-
myoclonic) described above.
Focal or generalized tonic-clonic
seizures may antedate the onset of
myoclonic epilepsy.
Figure 5.1.28: Tonic seizure

Mesial Temporal Sclerosis (MTS)

Abnormal high-signal intensity Surgery should be considered for
in the left hippocampus (arrows); children with intractable seizures

compare with the normal unresponsive to anticonvulsants.
hippocampus on the right This involves resection of the
Seen in children with intractable anteromedial temporal lobe
complex partial seizures. Mesial (temporal lobectomy) or a more
temporal sclerosis (MTS). Small limited removal of the underlying
hippocampus with increased signal hippocampus and amygdala
on T2-weighted sequences; Small (amygdalohippocampectomy).
temporal lobe; Enlarged temporal Prolonged EEG recording with
horn video-monitoring, complemented
by neuropsychologic testing,
History of febrile seizures in a few.
Figure 5.1.29: MRI—Mesial temporal sclerosis the Wada (intracarotid injection
(MTS) with CPS (Complex partial seizure) of amobarbital to establish the
Photo Courtesy: PAM Kunju, Trivandrum dominant hemisphere) test,
SPECT and PET are the presurgical
evaluation tests.
Microcephaly
Microcephaly: It may be primary Establish cause of microcephaly
(familial, chromosomal anomaly, provide accurate and supportive
craniostenosis or secondary genetic and family counseling.
(IU infn., maternal drugs, birth They are also mentally retarded.
asphyxia) CT scan of this child So assist with placement in an
with severe birth asphyxia and appropriate program that will
A B microcephaly showing multiple provide for maximum development
Figures 5.1.30A and B: Microcephaly and MRI cystic spaces bilaterally (Cystic of the child. If microcephaly is
with cystic encephalomalacia encephalomalacia). due to craniosynostosis treatment
Photo Courtesy: Anandakesavan, Thrissur may include surgical opening of
the sutures to let the brain grow
normally (in infants younger than 6
76 months).
Myasthenia Gravis
Autoimmune disorder. Ptosis is • Diagnosis: X-ray of the chest for
the most obvious and prominent thymoma. EMG with repeated
sign. The muscle fatigability starts stimuli, the muscles respond
with muscles of the face and neck. worse and worse with increase of
Facial weakness is usually bilateral. ptosis.
Weakness of the jaws, soft palate • Prostigmine has to be injected 4
and pharynx produce difficulties in to 5 times daily, or pyridostigmine
speech and swallowing. 15 mgm may be given orally
immunosuppressive drugs:
Prednisone, cyclosporine and
azathioprine may be used.
Patients are commonly treated
Figure 5.1.31: Bilateral ptosis with a combination of these drugs
with a cholinesterase inhibitor.
Oculogyric Spasm
Acute drug-induced dystonia occurs • The acute reactions are usually
within 24 hours of taking medication, self-limited or respond to
generally metoclopramide or treatment with anticholinergics
prochlorperazine, although such as benztropine or
any phenothiazine or related Promethazine injection. Counsel
antipsychotics can be responsible. by saying that acute movement is
Manifestations include—Bizarre self limiting—so just wait for 24
postures of face (Sustained hours.
grimacing), Eyes (oculogyric crisis), • Drug-induced Parkinsonism on
Jaw (trismus), Tongue - lingual using haloperidol for Sydenham
dystonia, Neck (torticollis), Trunk Chorea can be managed by
Figure 5.1.32: Oculogyric spasm (scoliosis). trihexyphenidyle.
Rett Syndrome
1. Loss of purposeful hand Multidisciplinary approach

movements, hand washing including symptomatic and
movements supportive medical treatment;
2. Developmental regression physical, occupational, and speech
(autistic) therapy; for seizure anticonvulsant;
with late motor impairment (stage
3. Acquired microcephaly. Always
IV), L-dopa for rigidity; naltrexone
in girls.
to stabilize breathing irregularities
Diagnosis: The clinical features monitoring for scoliosis.
+ molecular genetic testing for
MECP2 mutation. Stages are
I—Early onset stagnation period
6/12 month to 1½ year II—
Rapid regression 1-3 years III—
Figure 5.1.33: Rett Syndrome—handwashing
Pseudostationary stage IV—Late
movements
motor regression. 77
Ring Enhancing Lesion

Note: Ring enhancing lesions on Depends on cause. Tuberculoma—
CT/MRI ATT with steroid. Cysticercosis—
• The differential lesions includes: Albendazole 15 mg/kg × 2 weeks.
• Tuberculoma Antiepileptic drugs.
• Neurocysticercosis
• Cerebral abscess
A B • Metastasis
Figures 5.1.34A and B: Ring enhancing lesion • Glioma
Photo Courtesy: Anoop Verma, Raipur • Subacute infarct/hemorrhage/
contusion
• Demyelination(open ring)
• Radiation necrosis
• Postoperative change.
Sturge-Weber Syndrome
Eight months child with facial Treatment of neurological
angioma affecting primarily manifestation include management
upper face and child has right of seizure and headache. Treatment
focal seizure on history. Struge- option for facial angioma include
Weber syndrome is characterized laser therapy using various
by angiomas involving the pulsed-dye lasers, as well as pulsed
leptomeninges and ipsilateral light photo-facial. Treatment
skin of face, seizure, hemiparesis , of glaucoma if present is also
headache and developmental delay considered.
are most common neurological
manifestation.
Figure 5.1.35: Sturge-Weber syndrome

Sturge-Weber Syndrome—MRI, CT
(A) MRI of the child with SWS. Most of the patient with seizure
Ipsilateral leptomeningeal angioma achieve control with proper
involving entire left hemisphere. anticonvulsant drugs. Refractory
It usually involve parietal and patients should be carefully
occipital area. Other finding on considered for resection of lobe(s)
neuroimaging are ipsilateral or hemispherectomy.
A B intracranial calcification
Figures 5.1.36A and B: (A) Sturge-Weber (B) And “tram-track sign” of calcific
syndrome—MRI; (B) Sturge-Weber syndrome— intracranial densities.
CT Scan
78 PAM Kunju, Trivandrum
Tuberous Sclerosis—MRI
(Fig. 5.1.37A) MRI brain in tuberous Tuberous sclerosis complex

sclerosis complex showing affect most organ system and
cortical tubers (horizontal arrow) treatment vary according to
and subependymal nodules organ manifestation.With regard
(vertical arrow). Other findings to neurological manifestation,
are subependymal giant cell epilepsy and behavioral disorder
astrocytoma (Fig. 5.1.37B) and are two major treatment focus.
A B calcification of nodules. Vigabatrin is particularly effective
Figures 5.1.37A and B: (A) Tuberous sclerosis in infantile spasm. Epilepsy
MRI with tubers; (B) Tuberous Sclerosis CT with surgery has also a role to play in
subependymal giant cell astrocytoma
Photo Courtesy: Ritesh Shah, Surat management of selected patients.
PAM Kunju, Trivandrum Development of Subependymal
giant cell astrocytoma also to be
looked.
Tuberous Sclerosis—Skin
Hypopigmented macule (Ashleaf Tuberous sclerosis complex
macule) (Fig. 5.1.38A) over buttock affect most organ system and
in a child with infantile spasm treatment vary according to
and tuberous sclerosis complex. organ manifestation.With regard
Other cutaneous markers in TS to neurological manifestation,
are shagreen patch and adenoma epilepsy and behavioral disorder
A B sebaceum. (Fig. 5.1.38B) Epilepsy are two major treatment focus.
Figures 5.1.38A and B: Tuberous sclerosis
is the most common presenting Vigabatrin is particularly effective
Photo Courtesy: Ritesh Shah, Surat symptom in tuberous sclerosis in infantile spasm. Epilepsy
PAM Kunju, Trivandrum complex (80-90%). surgery has also a role to play in
management of selected patients.
Development of Subependymal
giant cell astrocytoma also to be
looked.
West Syndrome EEG—Hypsarrhythmia

Hypsarrhythmia consists of a Adrenocorticotropic hormone
chaotic pattern of high-voltage, (ACTH)—preferred drug. ACTH,
bilaterally asynchronous, slow- 20 U/day intramuscularly (IM) for
wave activity with multiple spike 2 weeks, and if no response occurs,
and polyspike. This EEG with the dosage is increased to 30 and
mental retardation and infantile then 40 U/day IM for an additional
spasm constitute the triad of West 4 weeks. Vigabatrin in infantile
syndrome. Begin between the ages spasm of tuberous sclerosis.
of 4 months and 8 months. Three Permanent Visual field
Figure 5.1.39: EEG—Hypsarrhythmia types of infantile spasms: Flexor, constrictions has been reported.
Photo Courtesy: PAM Kunju, Trivandrum extensor, and mixed. 79
Anencephaly with Large Meningocele

(Fig. 5.2.1A) Anencephaly: The Prevention: Couples who had an
cerebral hemisphere, cerebellum. anencephalic infant should have
Pituitary gland is hypoplastic and successive pregnancies monitored
the spinal cord pyramidal tracts are including amniocentesis, AFP level
missing.Anomalies like defect of measurement and serial USG.
A B
ear, cleft palate and congenital heart
disease often associated.
Figures 5.2.1A and B: Anencephaly
Photo Courtesy: Anandakesavan, Thrissur (Fig. 5.2.1B) Transillumination of
meningocele, showing that there is
no brain tissue inside.
Dandy-Walker Syndrome
Large Head with A. Prominent Shunting (Ventriculo-peritoneal or

occiput B. CT scan showing cystoperitoneal) for hydrocephalus,
cerebellar hypoplasia and cyst in physical therapy, speech therapy or
posterior fossa. Shape of the head specialized education for those with
may give clue to the diagnosis as in associated handicaps.
A B this case. Other examples are square
Figures 5.2.2A and B: Large head Dandy-
or box-shaped head (subdural
Walker syndrome hygroma), frontal prominence
Photo Courtesy: Anandakesavan, Thrissur (aqueductal stenosis) and uniform
enlargement Chiari malformation
with, communicating type
hydrocephalus.
Facioscapulohumeral Muscular Dystrophy-1

The typical appearance of the Supportive; Regular physiotherapy.
shoulders, the downward-sloping Scapular stabilization, forearm
clavicles, and the bulge in the region orthosis or ball-bearing feeder
of the trapezius muscle, due to the device to be useful.
scapula being displaced upward.
Facial weakness shown by pouting
mouth—“boucbe de tapir” The
biceps and triceps are weak and
forearm muscles are less involved
(leading to a ‘Popeye’ appearance).
Figure 5.2.3: Facioscapulohumeral

muscular Dystrophy
80
Facioscapulohumeral Muscular Dystrophy-2

Same patient as in Figure 5.2.3, the Supportive; Scapular stabilization,
typical appearance of the shoulders forearm orthosis or ball-bearing
and the bulge in the region of the feeder device to be useful.
trapezius muscle, due to the scapula
being displaced upward. The biceps
and triceps are weak and forearm
muscles are less involved (leading to
a ‘Popeye’ appearance)
Figure 5.2.4: Facioscapulohumeral muscular

dystrophy
Glutaric Acidemia Type I

Deficiency of glutaryl–coenzyme Oral carnitine, Riboflavin
A dehydrogenase; Infant with supplementation GCDH gene
megalencephaly, an acute mutation (Chr 19p13.2) can be
encephalopathy regression of detected antenatally.
development, and progressive
choreoathetosis. Cerebral palsy is
a misdiagnosis; acidosis, urinary
glutaric, 3-hydroxyglutaric,
3-hydroxybutyric, and acetoacetic
acids are detectable.
Figure 5.2.5: Glutaric acidemia type I

Glutaric Acidemia Type I—MRI

Cerebral atrophy, most marked • Low protein diet (restrict
in the frontal and temporal lobes. tryptophan and lysine)
wide sylvian fissure (yellow Oral carnitine, Riboflavin
arrow), decreased signalintensity supplementation.
of lentiform nucleus, bifrontal • Intrauterine diagnosis by fetal
subdutral hematoma (green arrow). sonography for dilated sylvian
fissure in 3rd trimester or DNA
analysis in end of 1st or 2nd
trimester.
Figure 5.2.6: Glutaric acidemia type I

81
Hallervorden-Spatz Disease
Pantothenate kinase-associated Treatment for dystonia, baclofen
neurodegeneration (PKAN)— pump, oral trihexyphenidyl, and
Progressive rigidity, first in the foot. deep brain stimulation.
(Fig. 5.2.7A) Then in the hand
with severe dystonia and spastic
immobility
(Fig. 5.2.7B) Other features are
choreoathetosis and dysarthria.
Death within 5 to 10 years. Caused
due to iron deposition in brain. Now
grouped under neurodegeneration
with brain iron accumulation
A B
(NIBA).
Figures 5.2.7A and B: Hallervorden—Spatz
disease
Photo Courtesy: PAM Kunju, Trivendrum
Hallervorden-Spatz Disease—MRI
Coronal T2W MRI—‘Eye of the tiger’ • Differentiate from other T2
sign: low signal GP–neuronal ceroid
MRI hyperintensity surrounded by lipofuscinosis, fucosidosis and
hypointensity in the globus pallidus high signal GP—methyl malonic
(GP). acidemia Kearn-Sayre syndrome
A B
and anoxic encephalopathy.
Figures 5.2.8A and B: ‘Eye of the tiger’ sign Diagnosis: The MRI features +
Photo Courtesy: PAM Kunju, Trivendrum genetic study showing abnormal • Treatment: In PKAN, though
pank 2 gene; locus is 20p13. iron deposition in GP, iron
chelation ineffective. A potential
for pantothenate replacement.
Stereotactic pallidotomy in severe
cases.
Hemimegalencephaly—Linear Nevus Sebaceous Syndrome—MRI

MRI shows abnormal gyration, • Look for Associations:
ventriculomegaly, colpocephaly, • NF 1
an “occipital sign” (displacement
• Tuberous sclerosis
of the occipital lobe across the
midline), and increased volume and • Klippel-Trenaunay-Weber
T signal of white matter, in addition Proteus syndrome
to the overall increased size of the • Hemihypomelanosis of Ito
involved hemisphere. • Epidermal nevus syndrome
Clinical features (Fig. 5.2.10) • Seizure may require multiple
anticonvulsants and if intractable
surgical hemispherectomy.
Figure 5.2.9: Hemimegalencephaly MRI

82 Photo Courtesy: PAM Kunju, Trivandrum
Hemimegalencephaly—Linear Nevus Sebaceous Syndrome

Linear sebaceous nevus (a hairless • Look for Associations:
plaque on the right scalp and • NF 1
face, eye abnormalities, skeletal
• Tuberous sclerosis
deformities and CHD
• Klippel-Trenaunay-Weber
Hemimegalencephaly—MRI
Proteus syndrome
shows abnormal gyration,
ventriculomegaly, colpocephaly, • Hemihypomelanosis of Ito
an “occipital sign” (displacement • Epidermal nevus syndrome
of the occipital lobe across the • Seizure may require multiple
midline), and increased volume and anticonvulsants and if intractable
Figure 5.2.10: Linear nevus sebaceous T signal of white matter, in addition surgical hemispherectomy.
syndrome to the overall increased size of the
Photo Courtesy: PAM Kunju, Trivandrum involved hemisphere.
Heterotopia
Gray Matter Heterotopia: Clumps Management is by antiepileptic
of grey matter being located in white drug. No surgery is indicated except
matter area, caused by arrested corpus callosotomy if seizures are
migration of neurons to the cortex. intractable.
Divided into three: subcortical,
subependymal, and band
heterotopia (also called double
cortex). MRI shows heterotopia
as areas of gray matter intensity.
They may be identified anywhere
in the white matter or protruding
into the lateral ventricle from the
immediate periventricular region.
Symptoms vary from normal to
Figure 5.2.11: Subcortical heterotopia severe developmental delay, seizure
or mental retardation.
Periventricular Nodular Heterotopia

Periventricular nodular heterotopia. Management is by antiepileptic
Axial T1W MR image shows drug. No surgery is indicated except
confluent nodules of gray matter corpus callosotomy.
lining the walls of the lateral
ventricles. Disorders of Neuronal
Migration 1. Neuroblasts never
having begun migration from the
periventricular region produce
periventricular nodular heterotopia,
2. Migration, arrested in the
subcortical white matter, produces
subcortical laminar heterotopia and
3. Neuroblasts reached the cortical
plate but lack correct layering, leads 83
Figure 5.2.12: Periventricular nodular
heterotopia
to abnormalities of gyration, such as
Photo Courtesy: PAM Kunju, Trivandrum lissencephaly or pachygyria.
Schizencephaly
This picture shows unilateral Presently, there is no cure, but the
CSF–filled cleft extending from the goal of treatment is to manage the
ventricle to the periphery. A case symptoms.
of Schizencephaly it is a disorder of Treatment may include:
neuronal migration characterized
• Anticonvulsants
by a CSF–filled cleft, which is lined
by gray matter. The cleft extends, • Surgical shunt in the brain to
from the ventricle (ependyma) to drain the fluid
the periphery (pia) of the brain. • Surgical excision of the offending
The clefts may be unilateral or brain tissue that surrounds the
bilateral and may be closed (fused cleft.
lips), or separated (open lips). In
porencephaly, scar tissue and white
matter are apparent, but in cleft, it is
lined with brain tissue.
Figure 5.2.13: Schizencephaly
Hydranencephaly
(Fig. 5.2.14A) Transillumination Ventriculoperitoneal shunt prevents
with typical facies. massive enlargement of the
(Fig. 5.2.14B) CT scan showing cranium. Seizures to be managed
absent cerebral hemispheres (due with AEDs.
to intrauterine occlusion of bilateral
internal carotid arteries). Note the
A B
retained brainstem and cerebellum
Figures 5.2.14A and B: Hydranencephaly supplied by posterior circulation.
Lissencephaly
Lissencephaly: Smooth brain caused Early stimulation and intervention
by defective neuronal migration with OT and PT. Intractable
during the 12th to 24th weeks of seizures may be controlled with
gestation. ‘Agyria’ (no gyri) or ACTH and multiple medication.
‘pachygyria’ (broad gyri), thick If hydrocephalus shunting.
cortex, and transversely placed Frequent respiratory infection
sylvian fissure gives Figure of 8 and systemic complications to
appearance. be addressed. If feeding becomes
difficult, a gastrostomy tube may be
considered.
Figure 5.2.15: Lissencephaly

84 Photo Courtesy: PAM Kunju, Trivandrum
Metachromatic Leukodystrophy (MLD)

MLD-T2 W MRI showing Symmetric Supportive, physio, antispastic
peri ventricular hyper intensity drugs. Bone marrow transplantation
(demyelination) that spares the and enzyme (arylsulfatase).
subcortical U fibers. Replacement were tried.
MLD presents as Late infantile,
Juvenile (incoordination of gait,
spasticity, incontinence, dysarthria
and peripheral neuropathy),
and adult MLD (memory and
psychiatric disturbances).
Figure 5.2.16: Metachromatic leukodystrophy

Myopathic Facies
Myopathic facies (ptosis, attenuated The goal is to prevent contracture
facial expression, open mouth, and skeletal deformity and to keep
tired look) seen in congenital the patient able to be ambulant as
myopathies, congenital muscular long as possible. Trial of carnitine.
dystrophies. Myotonic dystrophy,
mitochondrial myopathies and
facioscapular humeral muscular
dystrophy. Diagnosed by CK, EMG,
muscle biopsy and genetic analysis.
Figure 5.2.17: Myopathic facies

85
Radial Nerve Palsy

Schwannoma from radial nerve • Diagnosis: Nerve conduction
with wrist drop. Following velocity, Plain films can help
situations may result in wrist drop: identify bone spurs and fractures;
Stab wounds to the chest at or MRI in selected cases
below the clavicle or birth injury • Management: Intracapsular
damaging the posterior cord of tumor removal and nerve
brachial plexus; fracture humerus; reconstruction. General
lead poisoning; prolonged use management in nerve palsy—
of crutches, injection injury, Physio and cockup splint (a splint
Schwannoma of radial nerve (very used to immobilize the wrist and
rare tumor). leave the fingers free) will prevent
Note these points: long-term contracture.
1. Weakness of brachioradialis,
wrist extension and finger flexion
= radial nerve lesion; 2. Weakness
of finger extension and radial
Figure 5.2.18: Schwannoma from radial nerve
deviation of the wrist on extension
with wristdrop
Photo Courtesy: PAM Kunju, Trivandrum = posterior interossious nerve
lesion; 3. Weakness of triceps, finger
extensors and flexors = C7,8 lesion;
4. Generalized weakness of upper
limb marked in deltoid, triceps,
wrist extension and finger extension
= corticospinal lesion.
Wilson’s Disease—Neurologic
(Fig. 5.2.19A) Wilson’s Disease; Diagnosis by serum ceruloplasmin
sardonic smile, facial grimacing, (reduced), quantification of 24
and dystonia of upper limb. hours urine copper (elevated,
(Fig. 5.2.19B) The Kaiser-Fleischer typically exceeds 100 mg/24
ring, a yellow-brown deposition hours), slit-lamp examination for
A B of copper in the Descemet’s the Kayser-Fleischer ring and liver
membrane of the cornea. biopsy for histologic and copper
content. Management. divided into
(Fig. 5.2.19C) MRI increased signal
acute (with Penicillamine) and
intensity on putamen and caudate
lifelong maintenance therapy (with
nucleus of the basal ganglia.
Trientine and Zinc). Ceruloplasmin
Neurologic symptoms can be oxidase activity and serum-free
C
alterations in speech, drooling, and copper should be monitored
Figures 5.2.19A to C: Wilson’s disease motor dysfunction, and mental to prevent iatrogenic copper
Photo Courtesy: PAM Kunju, Trivandrum changes. Tremor chorea, dystonia, deficiency.
and cerebellar impairment are the
earliest manifestations. Other MRI
findings—“face of the panda”, in the
midbrain and“bright claustrum”
sign.
86
5.3 NEUROLOGIC EMERGENCIES
Cranial Auscultation—Vein of Galen Malformation (VGM)

(Fig. 5.3.1A) Cranial auscultation: If CCF ventilatory support
Cranial bruit can be heard at and institution of aggressive
anterior fontanels, temporal region management of heart failure.
and over orbit; seen in AVM, vein of Acute hydrocephalus —VP shunt.
Galen malformation, (Fig. 5.3.1B) Vaso-occlusive therapy, including
A B Hemangioma and Increased ICP. selective catheterization and
Figures 5.3.1A and B: Vein of Galen malforma
Typically, in the neonatal period, therapeutic embolization of feeding
tion with cranial bruit VGM presents with congestive arteries with embolic glue or
Photo Courtesy: Anandakesavan, Thrissur heart failure, and a cranial bruit. microcoils.
Hydrocephalus may be the
presenting feature in older infants.
Decerebrate Rigidity and Decorticate Rigidity

The terms describe stereotyped Coma demands immediate
arm and leg movements occurring attention. So the physician must
spontaneously or elicited by sensory employ an organized approach.
stimulation in a comatose child ABC should be attended to prior
extension of the elbows and wrists to neurologic assessment.Then
with pronation (decerebration, establish the severity and nature
Fig. 5.3.2A) indicates damage to of coma. If the cause of coma
motor tracts in the midbrain or is evident Institute appropriate
caudal diencephalon. Flexion of the treatment. The immediate goal is
elbows and wrists and supination of prevention of further CNS damage.
A B
the arm (decortication, Fig. 5.3.2B) Hypotension, hypoglycemia,
suggests bilateral damage rostral to hypercalcemia, hypoxia,
Figures 5.3.2A and B: Decerebrate rigidity and
decorticate rigidity the midbrain. hypercapnia, and hyperthermia
Photo Courtesy: PAM Kunju, Trivandrum should be corrected rapidly.
Imaging in Herpes Encephalitis

T2-weighted MRI reveals hyper- • Start empiric acyclovir therapy
intensity corresponding to (preferably within 24 hours) in
edematous changes in the temporal suspected HSE.
lobes, inferior frontal lobes. • Acyclovir in doses of 10 mg/kg IV
Other MRI findings are: Patchy every 8 hours in children and 20
parenchymal or gyral enhancement, mg/kg (60 mg/kg/d) in neonates
restricted diffusion and reduction is currently recommended for
of the N-acetyl aspartate (NAA)-to- HSE.
choline ratio are other supportive
• Management of increased
features.
intracranial pressure, seizure, etc.
to be initiated.
Figure 5.3.3: Herpes Encephalitis
87
Japanese Encephalitis
(Fig. 5.3.4A) Patient with fever, Treatment is mainly supportive.
altered sensorium, dystonia and Preventive measures are vector
chorea (Fig. 5.3.4B) CT showing management, vaccination and
basal ganglia hypo-density—“Giant personal protection.
Panda” sign. Japanese Encephalitis-
A B Arthropod-borne (mosquito-borne)
Figures 5.3.4A and B: Japanese Encephalitis Flavivirus causes acute encephalitis;
Photo Courtesy: PAM Kunju, Trivandrum prodrome of nonspecific
constitutional symptoms, progresses
to disorientation and coma. Tremors,
convulsions and focal signs occur.
CT and MRI may be normal or show
diffuse edema. Bilateral thalamic
lesions that have often been
hemorrhagic if seen is diagnostic of
JE. CSF and lab studies to define the
viral etiology helps in diagnosis.
Medulloblastoma with Acute Hydrocephalus

Medulloblastoma (posterior fossa • Emergency medical (Mannitol,
tumor) (arrow) with hydrocephalus, Frusemide, etc.) or surgical
and brainstem compression. (craniotomy) is lifesaving
Solid mass in 4th ventricle, • Emergency VP shunting followed
hyperdense with intratumeral by debulking surgery.
A B necrosis, dilated lateral and 3rd • Craniospinal irradiation if
ventricle. >3 years. As intraneural seedling
is possible, preoperative
evaluation of entire neuraxis
required.
C D
Figures 5.3.5A to D: Myopathic facies

Pseudohypoparathyroidism
(Fig. 5.3.6A) Shortening of 3rd and • IV calcium, supportive treatment
4th metatarsals. and vitamin D supplementation.
(Fig. 5.3.6B) Basal ganglia calcification • If status epilepticus manage
Child with tetany and generalized with lorazepam and if not
seizure controlled Phenytoin followed
by phenobarbitone/sodium
A B History of abnormal movements
valproate IV.
Figures 5.3.6A and B: Pseudohypoparathy On examination: Shortening of 3rd
roidism and 4th) metatarsals and metacapls
(not shown).
Seen in pseudo hypoparathyroidism.
88 CT scan showing brain calcification
mainly in basal ganglia.
Silver Beaten Appearance—Increased ICP

X-ray skull of a child with headache Emergency medical (Mannitol,
and vomiting showing silver beaten Frusemide, etc.) or surgical
appearance and erosion of posterior (craniotomy) is lifesaving.
clinoid process.
Other features include sutural
separation and scalloping of
pituitary fossa.
Usual causes include ICSOL , brain
abscess and other cause of raised
ICT.
Figure 5.3.7: Silver beaten appearance
Subarachnoid Hemorrhage
CT reveals hyperdensity (white) The medical management focuses
in the subarachnoid and protecting the airway, managing
perimesencephalic cisterns. blood pressure before and after
Common cause in children is aneurysm treatment, preventing
head trauma. Others include rebleeding, managing vasospasm,
bleeding from a saccular aneurysm, treating hydrocephalus, treating
arteriovenous malformation hyponatremia, and preventing
or dural arterial-venous fistula pulmonary embolus. Aneurysm
and extension from a primary can be “clipped” by a neurosurgeon
intracerebral hemorrhage. or “coiled” by an endovascular
surgeon.
Figure 5.3.8: Subarachnoid hemorrhage

Uncal Transtentorial Herniation

A case of 3rd nerve palsy showing • Emergency intubation and hyper
partial ptosis with progressive ventilation ,antiedema measures
drowsiness. She also had blurred (Mannitol, Frusemide,etc.)
vision due to optic atrophy. or surgical decompression
MRI scan showing basal exudates, (craniotomy) is life saving.
tuberculoma Rt and hydrocephalus • A case of TB Meningitis -Stage
with Uncal transtentorial III. Supportive treatment,
herniation- impaction of the corticosteroid and ATT will
anterior medial temporal gyrus (the reverse the disease to an extent,
uncus) into the tentorial opening but residual lesions will be there
just anterior to and adjacent to the in more than 50% cases.
Figure 5.3.9: 3rd nerve palsy
midbrain leading to 3rd nerve palsy. 89
5.4 SYNDROMES
Apert Syndrome—Facies
Sporadic (rarely AD) inherited Cosmetic surgery of craniostenosis
craniostenosis. Facies- asymmetric and syndactyly.
and mild proptosis. Characterized
by syndactyly of 2nd, 3rd and 4th
fingers (and also toes as in this
case). All patients have progressive
calcification and fusion of bones of
hands, feet and cervical spine.
Figure 5.4.1: Apert syndrome

Cherry Red Spot

Cherry red spot; 2 disk diameter Depends on etiology. Generally, all
lateral to the optic disk. the conditions can have myoclonic
In this patient exaggerated startle seizures. It can be managed by
response with no organomegaly clonazepam/sodium valproate.
was suggestive of Tay-Sachs disease.
Other neurologic conditions
include sandhof disease,GM1
gangliosidosis, and sialidosis
(Cherry red spot myoclonus
syndrome).
Figure 5.4.2: Cherry red spot
Cornelia de Lange Syndrome

This picture is of 17 years boy Treatment of seizure and behavioral
with has severe developmental problems are mainstay. According
delay and seizures having thick to degree of developmental delay
eyebrows which are meeting in educational activity should be
midline(synophrys)—a character- advised.
istic feature of Cornelia de Lange
syndrome.
Heterozygous mutations in the
NIPBL and SMC3 and heterozygous
(in females) or hemizygous (in
Figure 5.4.3: Cornelia de Lange syndrome males) mutations in SMC1A result
Photo Courtesy: Ritesh Shah, Surat in Cornelia de Lange syndrome.
Most cases are sporadic due to de
90 novo mutations.

Picture of same patient of Cornelia Treatment of seizure and behavioral
de Lange syndrome showing problems are mainstay. According
another typical feature—joining of to degree of developmental delay
fingers and missing fingers. educational activity should be
advised.
Figure 5.4.4: Cornelia de Lange syndrome

Fundus—Choroid Tubercles
Shows choroid tubercles, the only For tuberculosis.
tuberculosis condition which
can be diagnosed without any
investigation.
Figure 5.4.5: Fundus—Choroid tubercles

Hypomelanosis of Ito
Hypomelanosis of Ito • Look for hemimegalencephaly/
(Incontinentia Pigmenti malformations
achromians) is characterized by • Treat seizures and institute early
presence of whorled hypochromic infantile stimulation program.
skin lesions often associated with
seizures, mental retardation,
hearing abnormalities, visual
problems and orthopedic
problems.
Figure 5.4.6: Hypomelanosis of Ito

91
Incontinentia Pigmenti
Caused by a genetic defect in No specifictreatment for IP.
X chromosome Treatment is aimed at the individual
• Clinical manifestations: Infants symptoms
with IP are born with streaky,
blistering areas. When the areas
heal, they turn into rough bumps.
Eventually, these bumps go away,
but leave behind darkened skin,
called hyperpigmentation. After
several years, the skin returns to
normal. In some adults, there may
be areas of lighter colored skin
(hypopigmentation).
• CNS features
• Delayed development
• Loss of movement (paralysis)
• Mental retardation
Figure 5.4.7: Incontinentia Pigmenti • Muscle spasms

• Seizures.
Miller-Dieker Syndrome
Miller-Dieker syndrome—facial Early stimulation and intervention
features. Prominent forehead, small, with OT and PT. Intractable
upturned nose, narrowing at the seizures may be controlled with
temples, eyes widely spaced ACTH and multiple medication.
Associated with lissencephaly If hydrocephalus shunting.
(Fig. 5.2.15). Frequent respiratory infection
and systemic complications tobe
addressed. If feeding becomes
difficult, a gastrostomy tube may be
considered.
Figure 5.4.8: Miller-Dieker syndrome
Xeroderma Pigmentosum
Xeroderma pigmentosum: • Protection from sunlight by
Rare autosomal disorder clothing, eyeglass or opaque
sunscreen.
Skin changes noted during infancy
on sun exposed area—erythema, • Early detection and removal of
scaling, bullae, crusting, epithelides, malignancy.
telangiectasia, keratosis and basal or • Antenatal detection by amniotic
squamous cell carcinoma. fluid culture possible. Affected
Neurological manifestations: families should have.
mental retardation, microcephaly, • Genetic counseling.
sensory-neural deafness, ataxia
and choreoathetosis (De Sanctis-
Figure 5.4.9: Xeroderma pigmentosum
92 Photo Courtesy: Anandakesavan, Thrissur
Cacchione syndrome).
Section 6
Cardiology
Section Editor
M Zulfikar Ahamed
Photo Courtesy
Babu George, Balu Vaidyanathan, C Indrani, Lalitha Kailas,
M Zulfikar Ahamed, PN Manju, Praveen Velappan,
S Harikrishnan, S Sankar, S Sivasankaran, VH Sankar
6.1 History and Clinical Examination

6.2 Heart Diseases Subsections
6.3 Emergencies
6.4 Syndromes
Section Outline
6.1 HISTORY AND CLINICAL EXAMINATION 95 ♦
Coronary Artery Dilatation in Kawasaki
♦ Helen Taussig 95 Disease 105
♦ Robert Gross 95 ♦ Device Closure of ASD 106
♦ Clubbing and Cyanosis 95 ♦ Ebstein Anomaly 106
♦ Kawasaki Disease (KD) 96 ♦ Lutembacher Syndrome 106
♦ Bridge at Arnhem 96 ♦ Mitral Stenosis (MS) 107
♦ Mitral Regurgitation—Rheumatic 107
6.2 HEART DISEASES SUBSECTIONS 96
♦ Ostium Secundum ASD with L → R Flow 107
6.2.1 X-rays 96
♦ PDA with L → R Shunt 108
♦ Anomalous Left Coronary Artery from the
♦ Rhabdomyoma in the LV 108
Pulmonary Artery (ALCAPA) 96 ♦ Tetralogy of Fallot 108
♦ Coarctation of Aorta 97
♦ Unobstructed TAPVC 109
♦ d-TGA 97
♦ Vegetations on Aortic Valve 109
♦ Dextrocardia with Epicardial Pacemaker 97
♦ Viral Myocarditis 109
♦ Dextrocardia with Situs Inversus 98 6.2.4 Angiography/Pathological Specimen 110
♦ Dextrocardia with Situs Solitus 98 ♦ Catheterization Lab 110
♦ Dilated Cardiomyopathy (DCM) 98 ♦ Balloon Dilatation of Pulmonary Valve (BPV) 110
♦ Eisenmenger Syndrome 99 ♦ Balloon Mitral Valvotomy (BMV) 110
♦ IPAH (Idiopathic PAH) 99 ♦ Coil Occlusion of PDA 111
♦ Levocardia with Situs Inversus 99 ♦ Pulmonary AV Fistula (PAVF) 111
♦ PDA Device in Situ 100 ♦ Septal Occluder (Amplatzer Device) 111
♦ Tetralogy of Fallot (TOF) 100 ♦ Pathology Specimen Showing Single
♦ Unobstructed Supracardiac TAPVC 100 Ventricle 112
6.2.2 ECGs 101
6.3 EMERGENCIES 112
♦ ECG Machine 101
♦ Atrial Flutter with 4:2 and 6:3 AV Block 112
♦ Alternate WPW 101
♦ Complete Heart Block 112
♦ Atrioventricular Septal Defect (AVSD) 101
♦ d-TGA in the Newborn 113
♦ Ebstein Anomaly 102
♦ Obstructed TAPVC 113
♦ Ebstein Anomaly (Newborn) 102
♦ SVT 113
♦ Long QT Syndrome 102
♦ Tricuspid Atresia 103 6.4 SYNDROMES 114
♦ Wenckebach Phenomenon 103 ♦ A Teenage Girl with Turner Syndrome 114
♦ Wolf-Parkinson-White (WPW) Syndrome 103 ♦ DiGeorge Syndrome 114
6.2.3 Echocardiography 104 ♦ Down Syndrome with Atrioventicular Septal Defect
♦ Echocardiographic Machine 104 (AVSD) 115
♦ 3D Echo Picture of VSD 104 ♦ Edward Syndrome 115
♦ Absent Pulmonary Valve Syndrome 105 ♦ Noonan Syndrome 115
6.1 HISTORY AND CLINICAL EXAMINATION
Helen Taussig
Helen Taussig (1898-1986) is She hit upon the idea of a shunt
considered the mother of Pediatric between a systemic artery and
Cardiology. She worked in John pulmonary artery to improve
Hopkins Hospital, USA. Her saturation in a cyanotic baby.
seminal work is titled ‘Congenital Alfred Blalock was the surgeon who
Malformations of the Heart’, which applied her idea into practice and
was published in 1947. did the first ever shunt for Tetralogy
of Fallot (TOF) and is rightfully
called Blalock-Taussig-Thomas
shunt. This was performed in a 11
months old baby in 1944.
Figure 6.1.1: Helen taussig

Source: Web collection
Robert Gross
Robert Gross (1905-1988) was a This historical landmark paved way
Pediatric Surgeon who worked in for surgical interventions in CHD.
Boston Children Hospital, USA. Later on BT shunt was performed
He performed the first ever cardiac in 1944. The first corrective repair
surgery in the world in 1938 by using cardiopulmonary bypass
ligating a PDA of a very sick child (open heart) for congenital heart
and gave a reason for diagnosing disease (CHD) was for ASD in 1953.
CHD to Pediatricians.
A B
Figures 6.1.2A and B: Robert Gross

Source: Web collection
Clubbing and Cyanosis

Both hands showing significant All cyanotic congenital heart
cyanosis and clubbing. Cyanosis diseases (CCHDs) will require
becomes apparent when arterial surgical intervention. In the
saturation comes down to 80 to 85%, newborn, stabilization is achieved
normal arterial saturation being by oxygen, prostaglandin E, balloon
above 95%. This occurs in congenital atrial septostomy and palliative
cyanotic heart diseases. Cyanosis is shunts. Later, intracardiac repair
often accompanied by clubbing of is offered at the appropriate age.
varying grades. Clubbing without Today 90% of all CCHDs can be
cyanosis in heart disease occurs in repaired or palliated.
Figure 6.1.3: Clubbing and cyanosis infective endocarditis.
Photo Courtesy: M Zulfikar Ahamed
95
Kawasaki Disease (KD)

Both hands and feet show peeling The treatment of choice for KD
with edema of the feet. These are is intravenous immunoglobulin
classical skin manifestations in (IVIG) 2 gm/kg as an infusion for 12
Kawasaki disease (KD). Edema hours. IVIG reduces the incidence
A B
is an early feature. Peeling of CAL to 5% from 25%. In addition,
occurs later—10 to 14 days. KD high dose aspirin (60–100 mg/kg/
is characterized by fever lasting day) is given initially, followed
for more than 5 days, mucus by low dose aspirin (5 mg/kg) for
membrane changes, non-purulent a variable period of time. KD is
C conjunctivitis, cervical slowly emerging as the second most
Figures 6.1.4A to C: Kawasaki disease lymphadenopathy along with limb common cause of acquired cardiac
Photo Courtesy: M Zulfikar Ahamed, changes. It can produce coronary illness in children in India, next
Lalitha Kailas artery lesion (CAL) in 20 to 25% if only to rheumatic fever (RF).
not treated early.
Bridge at Arnhem
The bridge at Arnhem, Netherlands Barker’s hypothesis states that

is very famous on two counts. The babies born LBW are likely to
siege of the Western Netherlands by develop obesity, insulin resistance,
Germans during world war II near hypertension and are at higher risk
Arnhem resulted in the infamous for developing CAD in adulthood.
Dutch famine. Allied forces Hence, the preventive cardiology
unsuccessfully tried to capture the services should aim also at reducing
bridge, among other places, towards LBW.
the end of the war. The Dutch
famine gave an opportunity to study
Figure 6.1.5: Bridge at Arnhem the ill effects of a famine on a long-
Source: Web collection term basis. The Dutch Famine Birth
Cohort Study was a landmark one
to give epidemiological proof for
Barker Hypothesis.
6.2 HEART DISEASES SUBSECTIONS

6.2.1 X-rays
Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA)
The X-ray shows gross cardiomegaly, ALCAPA is now managed with
globular heart and bi atrial coronary translocation. LCA is
enlargement suggesting dilated translocated from Pulmonary
cardiomyopathy (DCM). However, Artery to Aortic root. Previously
the ECG shows ST elevation in a procedure known as Takeuchi
V2-V5 (anterior wall infarction), surgery was adopted.
which is quite characteristic of
ALCAPA. It is a remediable cause
of ‘DCM’. Other remediable causes
of LV dysfunction mimicking
DCM are Coarctation of Aorta, AS,
Figure 6.2.1.1: ALCAPA
96 Photo Courtesy: M Zulfikar Ahamed Carnitine dependent DCM and
tachycardiomyopathy.
Coarctation of Aorta
There is minimal cardiomegaly with Coarctation with significant
normal lung vascularity. Ascending gradient should be corrected. It is
aorta and knuckle are dilated. The usually done by surgical resection
most striking finding is rib notching and anastomosis. Balloon dilatation
from 3rd rib onwards, particularly with stenting can be offered to
prominent on left. Rib notching is children above 12 years.
due to dilated intercostal arteries
forming collaterals . Rib notching
occurs usually beyond 4 to 6 years
of age. Careful observation in this
X-ray will reveal a 3 sign.
Figure 6.2.1.2: Coarctation of aorta

d-TGA
The egg on side appearance. Management includes PGE 1 ,
The appearance takes a few oxygen, and improving saturation
weeks to develop and is due to by BAS. Ideal surgery is arterial
mild cardiomegaly, RV apex, RA switch operation (ASO) where aorta
enlargement, narrow base and is translocated to LV and PA to RV
pulmonary plethora. Newborn in with coronary transfer.
the first week will not show egg on
side appearance.
Figure 6.2.1.3: d-TGA

Dextrocardia with Epicardial Pacemaker

There is dextrocardia with situs The L-TGA is associated with
solitus. The most common CHD in complete heart block which
the situation is L-TGA (congenitally requires pacemaker insertion
corrected transposition of great (PPI). Treatment of L-TGA include
vessels). We can see the pacemaker double switch if feasible, correction
lead attached by epicardial route. of intracardiac defects and PPI if
required.
Figure 6.2.1.4: Dextrocardia with epicardial

pacemaker 97
Photo Courtesy: Praveen Velappan
Dextrocardia with Situs Inversus

Also called mirror image CHDs are less complex and are
dextrocardia. Has lower incidence of managed according to their merit.
CHD (5%). It can be associated with
Kartagener’s syndrome.
Figure 6.2.1.5: Dextrocardia with situs inversus

Dextrocardia with Situs Solitus

Also called isolated dextrocardia As most of these children will have
or dextroversion. Ninety percent of CHD, surgery or interventions are
them will have CHD. Almost half of required. There may be technical
them will be L-TGA with/without difficulties encountered in such
VSD/PS or both. surgeries owing to malposition and
rare CHD.
Figure 6.2.1.6: Dextrocardia with situs solitus

Dilated Cardiomyopathy (DCM)

There is huge cardiomegaly DCM is managed with ACE
with globular cardiac shadow. inhibitors, digoxin, diuretics and
Cardiophrenic angles are clear. b-Blockers. The natural history is
There is biatrial enlargement and rather dismal. Children fare better
near normal lung vascularity. The than adults and spontaneous
base is narrow. improvement has been reported.
In end stage DCM, heart transplant
may have to be done.
98 Figure 6.2.1.7: Dilated cardiomyopathy

Eisenmenger Syndrome
The minimal cardiomegaly, hugely Treatment is nonsurgical and
dilated MPA, LPA and RDPA and supportive, warfarin, sildenafil,
peripheral pruning of lung blood calcium channel blockers and
vessels. bosentan have been tried. Heart
Eisenmenger syndrome is severe lung transplantation is the only
PVOD due to a L→R shunt which definitive answer.
causes either bidirectional shunt
or R→L shunt. The primary shunt
could be ASD, VSD, PDA, AP
window or AVSD. The defect is
inoperable. However the 10 years
Figure 6.2.1.8: Eisenmenger syndrome survival is 80%.
IPAH (Idiopathic PAH)
There is no cardiomegaly, with Treatment consists of high dose
dilated MPA, LPA and RDPA and calcium channel blockers, warfarin,
peripheral pruning. It is difficult to sildenafil and bosentan. Inhaled
distinguish the X-ray picture from or intravenous prostacyclins will
that of Eisenmenger syndrome. improve survival. Home O2 therapy
IPAH is a rare but very sinister is also useful.
disease which can affect young
children also. Five years survival is
only 20%.
Figure 6.2.1.9: IPAH (Idiopathic PAH)

Levocardia with Situs Inversus
This is quite rare. This is also called Almost all CHDs are complex .
isolated levocardia. This situation Some may need 2 staged surgery
has 99% incidence of CHD, mostly and pacemaker also.
L-TGA.
Figure 6.2.1.10: Levocardia with situs inversus

99
PDA Device in Situ

The device is seen as circular Currently the procedure of choice
structure near pulmonary artery for all moderate and large PDAs is
(PA) shadow. device closure. Various devices are
present in the market–Amplatzer,
Cocoon, etc. The success rate is
97 to 99% and mortality nil. The
patient should be put on low dose
aspirin for six months following the
procedure.
Figure 6.2.1.11: PDA device in situ

Tetralogy of Fallot (TOF)

Note the minimal cardiomegaly, Medical management of TOF

RV apex, pulmonary oligemia and will include IE prophylaxis, iron,
relative broad base—possibly due hydration, treating and preventing
to right arch. The typical Coer en spells and treating complications
sabot appearance is seen. Similar like cerebral abscess and
findings are also seen in TOF with thrombosis.
pulmonary atresia.
Figure 6.2.1.12: Tetralogy of fallot

Unobstructed Supracardiac TAPVC

There is mild cardiomegaly and the The standard surgery for
classical Figure-of-8 appearance. supracardiac TAPVC is Schumaker
Upper half of ‘8’ is due to SVC procedure.
dilatation on right and vertical vein
on left. Lower half of ‘8’ is due to RA
on right and LV on left.
The Figure-of-8 appears late in
infancy. The appearance can be
mimicked by thymic enlargement.
Majority of TAPVCs do not have the
classic appearance.
Figure 6.2.1.13: Unobstructed supracardiac
100 TAPVC
6.2.2 ECGs
ECG Machine
The original ancient ECG machine Electrocardiography is quite useful
weighing 220 lbs has been replaced in diagnosis of CHD and also of use
by the modern elegant digital in acquired heart disease. It is most
machine which weighs less than 4 often diagnostic in arrhythmias.
lbs.
Figure 6.2.2.1: ECG machine

Alternate WPW
This is a very curious ECG showing Alternate or intermittent WPW are
alternate WPW—one normal beat relatively benign and usually do not
and one pre-excited beat. Note the cause sudden cardiac death.
short PR and delta wave. WPW can
be sometimes intermittent.
Figure 6.2.2.2: Alternate WPW

Atrioventricular Septal Defect (AVSD)

The ECG shows right atrial Complete AVSD is to be repaired
enlargement, left axis deviation and between 3 and 6 months. Left
rSR in V1, which is quite diagnostic. alone, more than 30% will develop
AVSD is a common CHD (2–5%), pulmonary vascular obstructive
which can cause cyanosis, heart disease (PVOD) by 1 year.
failure or both. AVSD is particularly
common in Down’s syndrome.
Figure 6.2.2.3: Atrioventricular septal defect 101

Ebstein Anomaly
It shows a tall P wave , prolonged Treatment of Ebstein will depend

PR interval, right axis deviation and on the atrialization of RV and
wide, bizarre QRS in V1-V2 and arrhythmias.
V3R and V4R (RBBB). The whole
picture is strongly suggestive of
Ebstein anomaly. Short PR interval
can occur in Ebstein due to WPW
syndrome (15–20%).
Figure 6.2.2.4: Ebstein anomaly

Ebstein Anomaly (Newborn)

Newborn with huge cardiomegaly. Newborn with Ebstein may require

It is most likely having Ebstein O2, PGE1 and occasionally BT
anomaly. The cardiomegaly is called shunt. In very sick babies, Starnes
‘wall to wall’ cardiac enlargement. operation is done.
The differential diagnosis are critical
PS and pulmonary atresia with
intact septum. ECG shows P wave
taller than QRS - Himalayan P wave.
Figure 6.2.2.5: Ebstein anomaly (newborn)

Long QT Syndrome
ECG shows bradycardia. The striking The standard medical treatment
feature is prolonged QT interval, is by b-blockers-propranolol.
More than 600 msec. Normal QTc is In nonresponsive situations,
<440 msec. Borderline is between implantable cardioverter-
440–460 msec. LQTS is mostly defibrillator (ICD) implantation or
genetically determined and can stellate ganglionectomy is done.
predispose to malignant ventricular
arrhythmia and sudden cardiac
death.
Figure 6.2.2.6: Long QT syndrome

102
Tricuspid Atresia
ECG shows right atrial enlargement, The surgery of choice is TCPC (Total
left axis deviation, poor RV forces in cavopulmonary connection), where
V1 V2 and good LV forces which are both SVC and IVC are connected to
diagnostic of tricuspid atresia (TA). pulmonary artery bypassing right
TA is an important CCHD which atrium and ventricle. Sometimes
usually presents in the newborn palliation is achieved by either BT
period with severe cyanosis. shunt or Glenn shunt.
Survival at 1 year without surgery is
Figure 6.2.2.7: Tricuspid atresia 10 to 15% only.
Wenckebach Phenomenon
This shows type I Mobitz AV block It may not progress to CHB. If so, it
(2nd degree). Initially there is 4:3 may need pacing.
AV Block (2nd degree) and then 6:5
block. The PR interval gradually gets
prolonged and one QRS is dropped.
Figure 6.2.2.8: Wenckebach phenomenon

Wolf-Parkinson-White (WPW) Syndrome

The ECG shows short PR interval, Treatment of choice for
delta wave, wide QRS and some symptomatic WPW is RF ablation.
ST-T changes. The direction of QRS
and delta wave in V1 is downward-
right sided pathway. If in V1 delta
wave and QRS are up, pathway is
situated on the left side. Majority of
WPW are without CHD. The CHD
Figure 6.2.2.9: WPW syndrome
associated with WPW are
Photo Courtesy: M Zulfikar Ahamed L-TGA and Ebstein.
103
6.2.3 Echocardiography
Echocardiographic Machine
A modern echocardiographic The invention of echo machine
machine is shown which has a has revolutionized the diagnosis
digital platform and phased array of CHD. Echo came into being
probes. It has M Mode, 2D, Doppler in the late 1970s and is now the
and Color Doppler. Currently 3D most popular diagnostic tool in
echo is also increasingly being used CHD. In CHD > 95% of diagnostic
in CHD and valve diseases. information can be made from a
carefully performed echo.
Figure 6.2.3.1: Echocardiographic machine

Photo Courtesy: M Zulfikar Ahamed,
Babu George
3D Echo Picture of VSD

This is a transesophageal All significant VSDs (shunt >1.8:1)
echocardiogram (TEE) 3D echo should be closed around 2 to 3 years
picture showing a perimembranous and much earlier if the defect is
VSD visualized from the LV side. The larger. Inlet and subpulmonic VSDs
other potential locations of VSD— do not close spontaneously and will
subpulmonic (doubly committed), require surgical closure. Muscular
muscular and apical are also shown. VSDs can be closed by device.
The fourth variety is inlet VSD.
Figure 6.2.3.2: 3D echo picture of VSD

Photo Courtesy: S Sivasankaran
104
Absent Pulmonary Valve Syndrome

Absent pulmonary valve syndrome The course in the newborn may be
is a rare variant of TOF. It has stormy. Maximum mortality occurs
characteristically, rudimentary in newborn period due to CHF,
pulmonary valve and dilated PA respiratory distress and hypoxemia.
and branches. It can present in the Once the neonatal period is over,
newborn with cyanosis, RDS, stridor the baby stabilizes usually and is
and a loud systolodiastolic murmur. a candidate for intracardiac repair
The picture shows the presence (ICR) with transannular patch.
of PS and PR, both in color and
continuous wave (CW) Doppler.
Figure 6.2.3.3: Absent pulmonary valve

syndrome
Coronary Artery Dilatation in Kawasaki Disease
Both frames show coronary artery Low dose aspirin is given
dilatation (CAL) of left anterior indefinitely (5 mg/kg). Larger
descending artery in Kawasaki aneurisms may require addition of
disease. CAL can be classified as clopidogrel (1 mg/kg) along with
mild (<4 mm) , moderate (4–8 mm) low dose aspirin. Giant aneurism
and giant (>8 mm). Fifty percent may be managed with oral
of CAL regress in one year. Giant anticoagulant to keep INR between
aneurisms do not usually regress. 1.5 and 2.
Figures 6.2.3.4A and B: Coronary artery

dilatation in KD
105
Device Closure of ASD

Top film shows placement of the Sixty percent of OS ASDs are closed
device for ASD closure. The bottom by device. Ostium primum ASD and
is a 3D echo of an ASD closed by sinus venosus ASD are closed by
device. surgery only.
Figure 6.2.3.5: Device closure of ASD

Ebstein Anomaly
The apical view shows LA and LV The treatment of significant

on the left side. RA with anterior Ebstein is surgery—TV valve repair,
tricuspid leaflet is seen. There is a plication of atrialized RV and
distal displacement of septal leaflet closure of the ASD. Indications of
producing an atrialized RV (ARV). this sort of surgery (Danielson’s
The true RV is relatively small. repair) are class III and IV status,
Ebstein anomaly is quite rare (0.5%), deepening cyanosis, progressive
but is a fascinating CHD. It can cardiomegaly and refractory SVT.
present with shock, CHF, cyanosis
or all in the newborn period. Twenty
Figure 6.2.3.6: Ebstein anomaly percent of Ebstein can have WPW
Photo Courtesy: M Zulfikar Ahamed syndrome.
Lutembacher Syndrome
The upper panel shows rheumatic Management is essentially surgical.
MS with moderate ostium Balloon mitral valvotomy (BMV) for
secundum ASD. In the lower panel MS and device closure for ASD can
color jet delineates both ASD and be attempted.
MS. Lutembacher is extremely rare.
One reason for ASD with a loud
A murmur is Lutembacher. MS can
worsen symptoms of ASD and ASD
can mitigate the hemodynamic
effects of MS like PVH.
Figures 6.2.3.7A and B: Lutembacher syndrome

106 Photo Courtesy: S Harikrishnan
Mitral Stenosis (MS)

The upper panel (PS LAX) shows Initial management is medical—
the doming, thick mitral valve with rest, diuretic and b-blockers. The
a large LA. The bottom panels show standard treatment of significant MS
the narrow mitral valve opening is balloon mitral valvotomy.
(very much small mitral valve area)
A
Doppler interrogation of mitral
valve indicating severe MS. Mitral
valve area can be calculated by
pressure half time method along
B C with 2 D measure. Normal MV area
is 4 cm2/M2. MS is said to exist when
Figures 6.2.3.8A to C: Mitral stenosis
Photo Courtesy: M Zulfikar Ahamed MVA is < 2.5 cm2. Severe MS in the
young (< 20 years) is called juvenile
MS. It is almost always rheumatic.
Congenital MS can occur rarely.
Mitral Regurgitation—Rheumatic
The first panel shows All rheumatic MR are given
morphoanatomy of rheumatic rheumatic prophylaxis as well as
MR. Other frames indicate varying endocarditis prophylaxis. No other
degrees of MR by color—from trivial drug is indicated for mild-moderate
to mild to moderately severe. MR. Moderate-severe MR may
require ACE inhibitors. Surgery for
severe MR in children is preferably
mitral valvuloplasty.
Figure 6.2.3.9: MR—Rheumatic

Ostium Secundum ASD with L→ R Flow

The echo picture is a four chamber All OS ASD except small (shunt
view showing a reasonably sized <1.5 : 1) should be closed. Sixty
Ostium Secundum ASD with L→R percent of ASDs can be closed by
flow. There is evidently RV volume device and rest by surgery. Surgical
overload. ASD forms 10% of all mortality is near zero. Thirty years
CHD. The other types of ASD are survival if surgery is done before 11
primum and sinus venosus. years is near control population.
Figure 6.2.3.10: Ostium secundum ASD

with L → R flow
Photo Courtesy: M Zulfikar Ahamed 107
PDA with L→R Shunt

PDA flow is picked up at pulmonary All PDAs except silent, trivial PDA
artery by color Doppler. The are to be closed. Practically all of
continuous flow signal on the left them are closed by a coil (small
hand side indicates the gradient <3.5 mm) or device (moderate and
across PDA between aorta and large). Surgery is seldom required.
pulmonary artery in systole and The age of closure may vary
diastole. It is called aorto pulmonary depending on the size of the shunt
gradient. From this value, and symptoms.
approximate PA pressures can be
calculated.
Figure 6.2.3.11: PDA with L→R shunt
Rhabdomyoma in the LV
Rhabdomyoma are the most Treatment is conservative. Large
common benign tumors of the heart persisting ones in RV are surgically

in children. They are pedunculated removed. LV rhabdomyoma are
masses which are usually found usually left untouched as it may
in ventricles, while myxomas are involve left ventriculotomy and are
found in atria. Rhabdomyoma can of high-risk.
be asymptomatic and may regress.
It can also produce LVOT/RVOT
obstruction, CHF and ventricular
arrhythmia. This is associated with
tuberous sclerosis.
Figure 6.2.3.12: Rhabdomyoma in the LV
Tetralogy of Fallot
The echo picture demonstrates The management of choice in TOF
(on parasternal long axis) a large is intracardiac repair around
subaortic VSD with override of 1 year of life. If the baby is severely
aorta. The apical view clearly shows cyanosed or has frequent spells
the large, malaligned VSD and early in life, one needs to do a BT
nearly 50% aortic override. Aorta shunt as a palliative measure.
A appears to arise from both LV and
RV. Right ventricular outflow tract
(RVOT) obstruction is to be assessed
in parasternal short axis view and
is not shown here. TOF is the most
common cyanotic CHD in infants
and children and accounts for 10 to
15% of all CHD.
B
108 Figures 6.2.3.13A and B: Tetralogy of fallot

Unobstructed TAPVC
Observe the very large RA and RV Management consists of early
and the diminutive LV. LA is small stabilization with inotropes,
and there is a posterior chamber diuretics, oxygen and urgent
into which pulmonary veins drain. surgical repair. Mortality is around
Unobstructed supracardiac TAPVC 5 to 10%. However, the survivor will
presents in the newborn and early have a near normal life.
infancy with severe CHF and mild
cyanosis. This will present like an
ASD with ‘cyanosis’. TAPVCs are
classified into infracardiac, cardiac
Figure 6.2.3.14: Unobstructed TAPVC and supracardiac.
Vegetations on Aortic Valve
This is a parasternal long axis view Infective endocarditis has a fairly
(LAX) showing echodense nodule high mortality - 30%. It needs
on aortic valve. Mitral valve is aggressive antimicrobial treatment
normal. In real time the vegetations at least for 4 weeks. The usual
are freely mobile. Infective organisms are S. viridans and
endocarditis (IE) of the aortic valve S. aureus.
usually occurs on bicuspid aortic
valve or rheumatic aortic valve
disease.
Figure 6.2.3.15: Vegetation on aortic valve

Viral Myocarditis
2 D picture shows a grossly Standard management of viral
dilated LV with thin walls. There myocarditis includes use of IV
is globularity of LV with LV inotropes, ACE inhibitors, digoxin
enlargement. In real time, the and diuretics. IVIG could be useful
contractility will be poor and there in children with myocarditis.
will be significant MR.
Figure 6.2.3.16: Dilated cardiomyopathy

Photo Courtesy: M Zulfikar Ahamed 109
6.2.4 Angiography/Pathological Specimen

Catheterization Lab
The photograph shows a diagnostic • Diagnostic catheterization in
catheterization lab. CHD has given way to catheter
interventions. Almost all PDAs,
more than half of ASDs, a
small percent of VSDs and a
few AP windows are closed by
device. Balloon valvotomy is the
treatment of choice in PS, AS, MS
and TS. A significant proportion
of CoA is managed with Balloon
Figure 6.2.4.1: Catheterization lab and stent.
• Other uses of catheterization are
stenting of PDA, closure of CAVF,
MAPCA, Balloon septostomy, etc.
Balloon Dilatation of Pulmonary Valve (BPV)

Angio picture shows the process of BPV is quite safe and offers an
dilatation of stenotic pulmonary excellent result in >95% and the
valve by a balloon. The waist is seen, result is long lasting. The mortality
which will be completely abolished is near zero. BPV is offered when PS
once successful dilatation is over. gradient is more than 50 mm Hg.
Figure 6.2.4.2: Balloon dilatation of pulmonary

valve
Balloon Mitral Valvotomy (BMV)

Angio pictures of progressive BMV is the procedure of choice in
dilatation of stenosed mitral valve MS in all ages. It has supplanted
orifice. The classical dumbbell CMV. The valve area doubles with
appearance of the balloon across a minimal risk of MR and the good
mitral valve is also seen. result lasts for at least 10 years.
Figure 6.2.4.3: Balloon mitral valvotomy

110 Photo Courtesy: S Harikrishnan
Coil Occlusion of PDA

Coils are seen (Gianturco or Cook), Coils are also used in closing
which are deployed via catheter to collaterals, CAVF, PAVF and other
close a smaller PDA. Coil closure unwanted channels.
of PDA is much less expensive than
device closure. Occasionally larger
PDA is also closed by multiple coils
delivered through a bioptome.
Figure 6.2.4.4: Coil occlusion of PDA

Pulmonary AV Fistula (PAVF)
Angiogram shows LPA injection Treatment is either by resection of
opacifying a fistula located at left fistula, resection of the particular
lower lobe of lung and draining lung lobe, tying off the feeder vessel
back to LA through pulmonary vein. or coil embolization of feeding
The characteristic angio picture vessel.
is quite diagnostic. PAVF causes
central cyanosis with no murmur,
normal ECG and near normal X-ray.
Echo anatomy of the heart also will
be reported as normal. Rarely it may
cause a continuous murmur and
Figure 6.2.4.5: Pulmonary AV fistula
Photo Courtesy: S Harikrishnan
may cast a definite shadow in the
lung.
Septal Occluder (Amplatzer Device)

Both ASD and VSD can be closed Devices can be used to close
nonsurgically by the septal occluder ASD, VSD (muscular), PDA, AP
device. It is made of Nitinol, which window, etc. There is recently
is a metal with a memory so that a device introduced for closing
when introduced through a catheter perimembranous VSD also.
over a defect, it will assume its
original shape and close the defect
appropriately.
Figure 6.2.4.6: Septal occluder

(Amplatzer Device)
Photo Courtesy: S Sivasankaran 111
Pathology Specimen Showing Single Ventricle

There is only one ventricle without Single ventricle is an uncommon
any intervening septum. Single but very important CCHD. Single
ventricle is an admixture lesion at ventricle with PAH will present
ventricular level. This can exist with with CHF and mild cyanosis and is
PAH or PS. Single ventricle with PS managed by PA banding followed
will behave like TOF. by Fontan operation. SV with PS
will present with cyanosis and
is managed with Fontan with or
without prior Glenn shunt.
Figure 6.2.4.7: Pathology specimen showing

single ventricle
Photo Courtesy: S Sankar, PN Manju, C Indrani
6.3 EMERGENCIES
Atrial Flutter with 4:2 and 6:3 AV Block

The saw-toothed appearance with Treatment is by IV b-Blocker,
varying AV block. It can cause IV amiodarone or DC version.
irregularly irregular pulse. This Adenosine does not work in atrial
Figure 6.3.1: Atrial futter with 4:2 and 6:2 AV
Block was found in a newborn. Atrial flutter.
Photo Courtesy: M Zulfikar Ahamed flutter in newborn or infants can be
associated with Ebstein anomaly. It
can be idiopathic also, as was in this
case.
Complete Heart Block

There is AV dissociation (varying CHB can be a medical emergency.
PR intervals—there is no regular If so IV isoprenaline infusion can be
relationship between P and tried. One may require temporary
QRS), atrial rate of 75/mt and pacing. PPI is offered based on
ventricular rate of 45/mt and narrow specific indications.
QRS complex. Most likely it is
suprahisian block.
Figure 6.3.2: Complete heart block
112
d-TGA in the Newborn

In the echo, note that the Immediate management is by
posterior left ventricle gives rise oxygen, prostaglandin E1 (PGE1)
to a branching, broad vessel—the and balloon atrial septostomy
pulmonary artery. RV is large and (BAS). BAS is also called Rashkind
gives rise to aorta. d-TGA is the most procedure and is a life-saving
common CCHD in the newborn and procedure. Arterial switch operation
survival at 1 year without surgery is (ASO) is offered as early as possible,
only 10%. d-TGA usually presents at least before 4 weeks. Late
in the first week of newborn period presentation of TGA will require
with deep cyanosis and mild CHF. Senning operation.
Figure 6.3.3: d-TGA in the newborn

Photo Courtesy: Balu Vaidyanathan
Obstructed TAPVC
This is the classical appearance of Obstructed TAPVC is a genuine
‘white washed’ lung and is a very cardiac emergency. Obstructed
important differential diagnosis of TAPVC with cyanosis becomes
HMD. By CXR it is very difficult to bad on PGE 1. Emergency surgery
differentiate between the two. White should be done for all obstructed
washed lung is due to severe PVH. TAPVC.
Figure 6.3.4: Obstructed TAPVC

SVT
Regular tachycardia with a rate of Termination is by IV adenosine.
300/mt in a newborn. QRS is narrow Nonresponsive SVT can be
and there are retrograde P waves terminated by IV amiodarone. In
in II, III AVF. Most likely SVT is an unstable baby, cardio version is
due to AVRT—due to an accessory employed (0.5–1.0 J/kg).
pathway. In newborn, SVT can
present with CHF, shock and
extreme irritability.
Figure 6.3.5: SVT
113
6.4 SYNDROMES
A Teenage Girl with Turner Syndrome

Webbing of neck is quite Coarctation will require surgical
characteristic in Turner correction. Patients with Turner
syndrome. Karyotyping shows syndrome usually present
XO chromosomal pattern. Turner with short stature or primary
syndrome is the most common amenorrhea. Height can be
chromosomal disorder in girls. It improved marginally by growth
can have CHD in 30 to 40%. The hormone administration. Assisted
characteristic lesion is Coarctation reproductive technology can offer
of Aorta. Bicuspid aortic valve a chance of pregnancy for the
and diffuse aortopathy are also affected girl.
common.
Figure 6.4.1: A Teenage girl with Turner
syndrome
Photo Courtesy: VH Sankar
DiGeorge Syndrome
Fluorescence in situ hybridization The syndrome will have
(FISH) showing 22q deletion and associated hypocalcemia and
echo showing Truncus arteriosus. immunodeficiency and hence
DiGeorge syndrome (Catch 22) is a all conotruncal anomalies of the
syndrome inherited in autosomal heart require testing for DiGeorge
recessive manner. There is a 22q syndrome. Preoperative work-up
deletion. It is associated with is needed for CHD undergoing
conotruncal anomalies—Truncus surgery. Counseling is also offered
A
arteriosus, interrupted aortic arch, to mothers, who were operated for
TOF and DORV. In fact , up to 10 TOF, when they become pregnant.
to 15% of TOF will have DiGeorge
syndrome by FISH.
Figures 6.4.2A and B: DiGeorge syndrome

Photo Courtesy: VH Sankar, M Zulfikar Ahamed
114
Down Syndrome with Atrioventicular Septal Defect (AVSD)

A case of Down syndrome featuring Needs multidisciplinary approach
clinodactyly of little finger and to manage Down syndrome
increased space between big toe including genetic counseling.
and 2nd toe (Sandal sign) with Recurrence is only 1% in Trisomy 21
accompanying karyotyping and due to nondisjunction but is as high
echocardiography of AVSD. This as 10% in translocation.
A B
syndrome is characterized by
mental retardation, microcephaly,
dysmorphism and in addition,
coronary heart disease (CHD),
which occurs in 40%. The most
C D
common CHD is AVSD, followed
Figures 6.4.3A to D: Down syndrome with by ventricular septal defect (VSD),
AVSD
atrial septal defect (ASD) and
tetralogy of fallot (TOF).
Edward Syndrome
A baby showing 18 trisomy in Survival is rare beyond two
karyotyping and the characteristic years, because of complex CHD,
overriding of fingers. 18 trisomy isomerism and pneumonias.
has the highest incidence of CHD Genetic counseling can be offered.
A among chromosomal anomalies,
virtually 100%. They include both
simple and complex CHD. The child
will have, curiously, hypertonia.
B C
Figures 6.4.4A to C: Edward syndrome

Noonan Syndrome
A teenage boy with webbed neck. Significant valvar PS will be offered
This is Noonan syndrome with balloon valvotomy, though it may
PS. ECG is showing RUQ axis and give suboptimal result. In such
RVH due to dysplastic PS. Noonan cases, surgical valvotomy will
syndrome can have phenotypical relieve the obstruction. HCM is
features of Turner syndrome and is managed medically. The person
Figure 6.4.5: Noonan syndrome inherited in an autosomal dominant also needs multidisciplinary
Photo Courtesy: VH Sankar,
M Zulfikar Ahamed fashion. CHD is present in 40%. management.
They include dysplastic pulmonary
valve with PS and HCM. Significant
PS will have characteristically RUQ
axis in ECG with RVH.
115
Section 7
Pulmonology
Section Editors
TU Sukumaran, Devaraj Raichur
Photo Courtesy
Devaraj Raichur, HS Surendra, JK Lakhani, KE Elizabeth,
NK Kalappanavar, Pushpa Panigatti, S Kavya, S Nagabhushana,
TA Shepur, TU Sukumaran, Vijay Yewale, Vinod Ratageri

7.3 Emergency Situations
7.4 Syndrome
7.5 Miscellaneous
Section Outline
♦ Tuberculous Pleural Effusion—Right Side with Hilar
7.1 COMMON CONDITIONS 119
♦ Acute Follicular Tonsillitis 119
Lymphadenopathy 130
♦ Acute Laryngotracheobronchitis (ALTB) 119 7.2 UNCOMMON CONDITIONS BUT NOT RARE 131
♦ Acute Otitis Media (AOM) 119 ♦ Acute Epiglottitis 131
♦ Acute Respiratory Distress Syndrome (ARDS) 120 ♦ Bronchiolitis Obliterans Organizing Pneumonia
♦ Adenoid Facies 120 (BOOP) 131
♦ Allergic Rhinitis 120 ♦ Bronchogenic Cyst 132
♦ Asthma 121 ♦ Castleman’s Disease 132
♦ Barrel-Chest in a Ventilated Baby 121 ♦ Congenital Cystic Adenomatoid Malformation
♦ Bronchiectasis 121 (CCAM) 133
♦ Bronchiolitis 122 ♦ Congenital Diaphragmatic Hernia 133
♦ Cellulitis in the Dangerous Area of Face 122 ♦ Congenital Lobar Emphysema 134
♦ Empyema 122 ♦ Esophageal Atresia with Tracheoesophageal Fistula 134
♦ Hydropneumothorax/Pyopneumothorax 123 ♦ Eventration of the Diaphragm 134
♦ Klebsiella Pneumonia 123 ♦ Hypoplasia of the Right Lung 135
♦ Klebsiella Pneumonia—‘Bulging Fissure Sign’ 123 ♦ Interstitial Lung Disease (ILD) 135
♦ Neuroblastoma (Secondary) with Right Pleural Effusion
♦ Lung Abscess 124
♦ Measles Bronchopneumonia 124
and 7th Rib Erosion 136
♦ Pulmonary Agenesis 136
♦ Meconium Aspiration Syndrome (MAS) 124
♦ Tumors 136
♦ Miliary Tuberculosis of the Lungs 125
♦ Pleural Effusion 125 7.3 EMERGENCY SITUATIONS 137
♦ Pleural Effusion/Empyema 125 ♦ Closed Pneumothorax 137
♦ Pneumocystis jiroveci (carinii) Pneumonia 126 ♦ False Foreign Body in the Chest 137
♦ Pneumococcal Pneumonia 126 ♦ Foreign Body Aspiration 138
♦ Primary Complex 126 ♦ Foreign Body Right Bronchus 138
♦ Respiratory Distress 127 ♦ Pneumothorax 139
♦ Respiratory Distress Syndrome (RDS) 127 ♦ RDS on Ventilator—Tension Pneumothorax 139
♦ Retropharyngeal Abscess 127
7.4 SYNDROME 140
♦ Cavitatory Tuberculosis with Necrotizing
Swyer-James MacLeod Syndrome (SJMS) 140
Bronchopneumonia 128
♦ Staphylococcal Pneumonia 128 7.5 MISCELLANEOUS 140
♦ Tuberculoma of Right Lung 129 ♦ Equipment for Asthma Therapy 140
♦ Tuberculoma of Right Lung—CT Scan 129 ♦ Hydatid Cyst—X-ray Chest 140
♦ Tuberculosis—Right Middle Lobe Collapse ♦ Nebulizer 141
Consolidation 129 ♦ Equipment for Resuscitation and O2 Therapy 141
♦ Tuberculosis—Bilateral Paratracheal ♦ Paraesophageal Hiatus Hernia (PEHH) 142
Lymphadenopathy 130 ♦ Falling Percentiles: Is it Abnormal? 142
♦ Tuberculosis—Hilar Lymphadenopathy 130 ♦ Thymus—Sail Sign 143
Acute Follicular Tonsillitis

Erythematous tonsils with exudate. Penicillin is the drug of choice.
Symptoms: Painful swallowing, Cephalosporins or clindamycin in
dry throat, malaise, fever and chronic infections.
chills, dysphagia, referred otalgia, Tonsillectomy if (any):
headache, muscular aches, and • 7 or more episodes in 1 year
enlarged cervical nodes.
• 5 or more episodes over 2 years
Signs: Dry tongue, erythematous
• Tonsillitis causing upper
enlarged tonsils, tonsillar or
respiratory obstruction
pharyngeal exudate, palatine
petechiae, and enlargement and • Tonsillar abscess
Figure 7.1.1: Acute follicular tonsillitis tenderness of the jugulodigastric Cautery with silver nitrate: For
Photo Courtesy: S Nagabhushana, Bengaluru
lymph nodes. chronically infected tonsillar crypts.
Acute Laryngotracheobronchitis (ALTB)

Narrowing of subglottic region of • Airway management.
the upper airway (steeple sign) is • Humidified O2.
seen.
• Nebulized racemic/nonracemic
ALTB is mainly caused by various epinephrine.
viruses; the most common is
• Oral/nebulized corticosteroids
parainfluenza virus type B.
are effective.
It is the most common form of acute
• Heliox—helpful in severe croup.
upper airway obstruction.
• Other supportive therapy.
Symptoms: 1 to 3 days history of
upper respiratory tract infection • Antibiotics are not indicated in
followed by barking cough, croup.
hoarseness and inspiratory stridor.
Signs: Hoarse voice, coryza , normal
to moderately inflamed pharynx
and tachypnea.
The most common site of
Figure 7.1.2: ALTB—“Steeple sign”
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla obstruction is subglottic area.
Acute Otitis Media (AOM)

The hyperemic bulging eardrum Antibiotics: In patients, <6 months
with loss of cone of light. of age, even presumed AOM should
AOM can be nonsuppurative or be treated. For <2 years of age
suppurative; both produce middle treat all confirmed cases of AOM.
ear effusion. Bulging, angry-red In children >2 years of age, treat
eardrum (as seen in Fig. 7.1.3) confirmed, severe episodes. First
associated with pain and immobility line—Amoxicillin. Second line—
is characteristic of acute suppurative co-amoxiclav, cefuroxime axetil,
otitis media (ASOM). or IM ceftriaxone. The duration of
treatment—10 days for <2 years and
Figure 7.1.3: Acute suppurative otitis media 3 to 5 days for older children. Rarely 119
(ASOM)
myringotomy is necessary.
Acute Respiratory Distress Syndrome (ARDS)

X-ray showing areas of relatively • Eliminate the initiating factor.
normal lung interspersed with • Mechanical ventilation with high
atelectatic and consolidated regions PEEP and low tidal volume is the
that are concentrated towards the main stay of treatment.
dependent zones.
• Other treatment modalities:
ARDS, the noncardiogenic – Recruitment maneuver: initial
pulmonary edema, is defined, by high PEEP (sec to min)
the presence of an acute onset – Inverse ratio ventilation: IT>ET
respiratory distress with PaO2/ – Permissive hypercapnea
FiO2 ratio ≤300 mm Hg, bilateral – Diuretics
infiltrates on chest radiograph, – Prone positioning (“Proning”)
absence of left heart failure. – NO (Nitric Oxide).
Causes: Sepsis, pneumonia, near – Reduce metabolic rate
Figure 7.1.4: ARDS in dengue hemorrhagic fever drowning, pumonary embolism, (sedation, treat fever)
Photo Courtesy: NK Kalappanavar,
lung contusion, shock, SIRS, etc. – Extracorporeal membrane
S Kavya, Davangere
oxygenation (ECMO) in
newborns and small infants,
who are unresponsive to

mechanical ventilation
– Exogenous surfactant.
Adenoid Facies
Typical facies with prominent upper • Penicillin—the drug of choice
lips, protruded maxillary teeth, cephalosporins or clindamycin
suggestive of adenoidal hypertrophy may be more efficacious in
(Fig. 7.1.5A). chronic infections.
Other features could be: high • Adenoidectomy—in chronic
A B arched palate, snoring, sleep apnea/ adenoiditis.
Figures 7.1.5A and B: (A) Adenoid facies; hypopnea. Important trigger for
(B) X-ray showing adenoid hypertrophy posterior nasal drip and asthma.
Photo Courtesy: S Nagabhushana, Bengaluru Group A streptococci are the
and Vijay Yewale, Navi Mumbai
causative agents. X-ray adenoid
(Fig. 7.1.5B) shows soft tissue
bulge (adenoids) narrowing the
nasopharynx.
Allergic Rhinitis
“Allergic Salute” of allergic rhinitis is • Avoidance of known allergens.
demonstrated. • Oral antihistamines.
Dennie Morgan Line (nasal crease) • Intranasal steroids.
is seen.
• Oral/nasal alpha-agonists.
• Specific allergen immunotherapy.
• Monoclonal recombinant
humanized anti-IgE.
120
Figure 7.1.6: Allergic rhinitis
and Devaraj Raichur, Hubli
Asthma
Hyperinflated lungs, indicating • Eliminating and reducing
air-trapping, are seen. problematic environmental
Asthma is a chronic inflammatory exposures.
condition of the lung airways • Treat co-morbid conditions
resulting in episodic airflow • Management in acute
obstruction. exacerbation:
– Oxygen and inhaled short-
Intermittent dry coughing and/or
acting β-agonists.
expiratory wheezing are the most
– Systemic corticosteroids
common chronic symptoms of
– Nebulized anticholinergic
asthma.
Figure 7.1.7: Asthma–hyperinflated lungs (Ipratropium bromide).
Photo Courtesy: Devaraj Raichur, KIMS, Hubli Respiratory symptoms can be – IV Magnesium sulfate infusion
worse at night, especially during – IV Aminophylline.
prolonged exacerbations triggered – Epinephrine 0.01 mg/kg SC or
by respiratory infections or inhalant IM
allergens. – Terbutaline IV infusion.
• Home treatment: Depends on
severity of the chronic symptoms.
Barrel-Chest in a Ventilated Baby
Increased AP diameter of the chest • Keep PEEP low.
is evident. • Avoid generation of significant
This could be due to MAS but in auto-PEEP.
a ventilated baby, hyperinflation
• Allow enough expiratory time.
of the lungs due to unduly high
positive end-expiratory pressure
(PEEP) in an improving lung disease
can also result in such a picture.
Figure 7.1.8: Barrel-chest in a ventilated baby

Photo Courtesy: Devaraj Raichur, KIMS, Hubli
Bronchiectasis
Bilateral dilatation of the bronchi at • The initial therapy is to decrease
various levels is visible; left > right. airway obstruction and control
Bronchiectasis: Irreversible infection.
abnormal dilatation of the • Chest physiotherapy.
bronchial tree. • Bronchodilators 2 to 4 weeks of
antibiotics.
Symptoms: Cough and copious
• Chronic prophylaxis: Oral
purulent sputum; Others:
macrolide or nebulized
Hemoptysis, fever, anorexia and
antibiotics.
poor weight gain.
• Underlying disorder should be
Signs: Crackles localized to the addressed.
Figure 7.1.9: Bronchiectasis
Photo Courtesy: TA Shepur, KIMS, Hubli
affected area, wheezing, and digital • Sometimes segmental or lobar
clubbing. resection is done in localized
bronchiectasis.
121
• Rarely lung transplantation.
Bronchiolitis
Hyperinflated lungs are seen. • Mainly supportive.
Common age: 2 months to 2 years. • Cool humidified O2.
Predominantly a viral disease. • Bronchodilators.
Respiratory syncytial virus (RSV) • Corticosteroids are not
is the most common cause. Other recommended in previously
agents include parainfluenza and healthy children.
adenoviruses, Mycoplasma, and
• In children with congenital heart
other viruses.
or lung disease, ribavirin may be
Starts as mild upper respiratory administered by aerosol.
tract infection (URTI) followed by
• Antibiotics only in secondary
respiratory distress with wheezy
Figure 7.1.10: Bronchiolitis bacterial pneumonia.
Photo Courtesy: Devaraj Raichur, KIMS, Hubli cough, dyspnea and irritability.
Cellulitis in the Dangerous Area of Face

Swelling, redness and tenderness of • Antibiotics covering Streptococci,
the tip of the nose are present. Staphylococcus aureus, and H.

Infections in the “Dangerous area influenzae. (e.g. Co-amoxyclav).
of the face” can lead to cavernous • Symptomatic therapy.
sinus thrombosis.
Figure 7.1.11: Cellulitis of the nose–dangerous

area of the face
Empyema
Empyema, collection of pus • Antibiotics.
in pleaural space, is usually a • Thoracentesis and chest tube
complication of untreated or drainage with or without a
inadequately treated pneumonia. fibrinolytic agent.
Symptoms: Cough, dyspnea, • Video-assisted thoracoscopic
A B retractions, tachypnea, orthopnea, surgery (VATS) or open
Figures 7.1.12A and B: (A) Right Empyema; or cyanosis. decortications.
(B) Right Empyema–CT scan
Physical findings: Signs suggestive of
S Kavya, Davangere pleural effusion.
Empyema is usually differentiated
from serofibrinous pleurisy by
thoracocentesis.
Cross-section CT thorax
showing pleural collection with
122 collapsedright lung (Fig. 7.1.12B).
Hydropneumothorax/Pyopneumothorax
Air-fluid level indicates presence of Treatment: as in pleural effusion/
gas and liquid in the pleural space. empyema.
Figure 7.1.13: Hydropneumothorax–left side

Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla
Klebsiella Pneumonia
Upper lobe involvement with Antibiotics effective against
pneumatoceles and loculated Klebsiella:
empyema is suggestive of Klebsiella • Amoxicillin-clavulanate (20–45
pneumonia. mg/kg /24 hr divided q 8–12 hr
Klebsiella pneumonia is common PO).
in newborns. Sputum appears like • Ceftriaxone (50–75 mg/kg q 24 hr
‘Red Currant Jelly’. X-ray may show IV or IM).
‘Bulging fissure sign’.
• Amikacin (15–25 mg/kg/24 hr
divided q 8–12 hr IV or IM).
Figure 7.1.14: Klebsiella pneumonia

Klebsiella Pneumonia—‘Bulging Fissure Sign’

Bulging lower border of Antibiotics effective against
consolidated right upper lobe is Klebsiella:
suggestive of Klebsiella pneumonia. • Amoxicillin-clavulanate (20–45
mg/kg /24 hr divided q 8–12 hr
PO).
• Ceftriaxone (50–75 mg/kg q 24 hr
IV or IM).
• Amikacin (15–25 mg/kg/24 hr
divided q 8–12 hr IV or IM).
Figure 7.1.15: Klebsiella pneumonia—Bulging

fissure sign
Photo Courtesy: Devaraj Raichur, KIMS, Hubli 123
Lung Abscess
Localized area of thick-walled cavity • For uncomplicated cases,
is seen in the right mid-zone. antibiotics for 4 to 6 weeks,
Etiologic agents: Anaerobic covering S. aureus, anaerobes and
and aerobic bacteria. Fungi in gram-negative bacteria.
immunocompromised patients. • For severely ill patients who fail
Symptoms: Cough, fever, dyspnea, to improve after 7 to 10 days of
chest pain, vomiting, sputum antimicrobial therapy, surgical
production, weight loss, and interventions like percutaneous
hemoptysis. aspiration techniques, and rarely
Signs: Tachypnea, retractions with thoracotomy with lobectomy
accessory muscle use, decreased and/or decortication may be
breath sounds, and dullness to necessary.
Figure 7.1.16: Lung abscess
percussion in the affected area.
Measles Bronchopneumonia
Fine, reticular interstitial opacities • Airway humidification and

are evident in the radiograph supplemental oxygen.
of a child having measles with • Ventilator support—in case of
respiratory distress. respiratory failure.
Measles bronchopneumonia (Giant • Prophylactic antimicrobial
cell pneumonia) is caused directly therapy is not indicated.
by measles virus. Antimicrobials are used if
It should be differentiated from bacterial pneumonia cannot be
superimposed bacterial infections, ruled out.
which are also common. • Vitamin A supplementation.
Figure 7.1.17: Measles bronchopneumonia

Meconium Aspiration Syndrome (MAS)

Increased anteroposterior (AP) • Supportive care and standard
diameter of chest is seen in a management of respiratory
neonate with MAS. distress.
Meconium staining of the skin and • Exogenous surfactant in severe
the umbilical cord are commonly cases.
seen. • Continuous positive airway
Normally, infants have relatively pressure (CPAP) and mechanical
higher AP diameter than older ventilation in moderate-to-severe
Figure 7.1.18: Barrel-chest in MAS children and adults, but the ball- MAS.
valve mechanism of the aspirated • High frequency ventilation (HFV).
meconium increases the AP
• inhaled nitric oxide (iNO).
diameter further.
• Extracorporeal membrane
124 oxygenation (ECMO).
Miliary Tuberculosis of the Lungs

The fine, round, millet-like opacities • Antitubercular therapy (ATT)—
in both lung fields (miliary 2HRZE3 + 4HR3 (DOTS regimen)
mottling) with right paratracheal given for 6 months.
lymphadenopathy. • Fever usually declines within 2 to
Miliary tuberculosis is the most 3 weeks of starting ATT.
clinically significant form of • Corticosteoids relieve symptoms
disseminated tuberculosis. faster.
More common in infants,
malnourished and
immunocompromised children.
Figure 7.1.19: Miliary tuberculosis of the lungs

Photo Courtesy: Devaraj Raichur,
HS Surendra, KIMS, Hubli
Pleural Effusion
Bilateral thin layer of opacity • Supportive therapy.
separating the rib-cage from the • Therapeutic pleural tap if severe
lungs. respiratory distress occurs.
Figure 7.1.20: Bilateral pleural effusion in

congenital Chikungunya
Pleural Effusion/Empyema
Homogeneous opacity obliterating • Treat the underlying disease.
left costophrenic angle with • Therapeutic thrococentesis.
mediastinal shift to right is seen.
• Chest tube drainage—when
Pleural effusion could be a fluid reaccumulates to cause
transudate or an exudate. respiratory embarrassment or if
Commonest cause—bacterial fluid is purulent.
pneumonia. Large effusions • In parapneumonic effusion
produce cough and respiratory with pleural fluid pH <7.20 or
distress. glucose level <50 mg/dl, tube
Signs: Mediastinal shift to opposite thoracostomy is done.
side, fullness of the intercostal
spaces, reduced tactile fremitus,
Figure 7.1.21: Left pleural effusion with left stony dullness, decreased or absent
lung collapse-consolidation
breath sounds. 125
Pneumocystis jiroveci (carinii) Pneumonia

(Fig. 7.1.22A) Right upper zone • (A and B) Trimethprim-
and lower zone consolidation; sulfamethoxazole (TMP-SMZ)
Left upper zone and middle (15–20 mg TMP/kg/day divided
zone consolidation; Sparing of qid).
right middle zone suggesting • Duration: 3 weeks in AIDS and 2
Pneumocystis jiroveci pneumonia: weeks for others.
It is a life-threatening infection in • Alternatively, pentamidine
the immunocompromised children isethionate (4 mg/kg as a single
A
without prophylaxis,~40% of daily dose IV).
children with AIDS, 12% of children
• Atovaquone (750 mg bid with
with leukemia, and 10% of patients
food, for >13 years of age).
with organ transplant recipients
experience P. carinii pneumonia. • Other effective therapies include
trimetrexate glucuronate or
(Fig. 7.1.22B) Bilateral extensive
combinations of trimethoprim
poorly defined nodular shadows
B plus dapsone, or clindamycin
seen mainly in the right lobe. Thick
Figures 7.1.22A and B: Pneumocystis jiroveci plus primaquine.
walled cavitatory lesion seen in
(carinii) pneumonia
Photo Courtesy: Vinod Ratageri, TA Shepur right lower lobe apical segment. • Corticosteroids (Prednisolone) are
KIMS, Hubli Thickening of the bronchovascular used for moderate to severe cases.
interstitium seen in bilateral
parahilar region.
Pneumococcal Pneumonia
Lobar/segmental distribution of • Multidrug resistant (MDR) strains
pneumonia. Commonly seen with of have been reported.
pneumococcal pneumonia. • Penicillin-G—drug of choice for
Pneumococcal pneumonia sensitive organisms.
manifests as tachypnea, increased • High-dose cefotaxime and
work of breathing, cyanosis ceftriaxone are effective, even in
and respiratory fatigue. Chest cephalosporin-resistant strains.
auscultation -crackles and
• For MDR pneumococci:
wheezing.
Figure 7.1.23: Collapse—consolidation Vancomycin (resistance has not
of right upper lobe been seen to date). Linezolid is an
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla alternative.
Primary Complex
Spindle shaped effusion into the 2HRZE3 + 4HR3 as per the revised
minor fissure in a child with strongly category I of RNTCP (2011).
positive Mantoux test.
126 Figure 7.1.24: Primary complex

Photo Courtesy: KE Elizabeth, GMC
Thiruvananthapuram
Respiratory Distress
Respiratory distress manifested • Assess ABCs
as: Chest retractions (subcostal • O2 therapy
retractions) and intercostal
• Maintain PaCO2
retractions.
• CPAP
Other manifestations could be
acting alae nasii, and accessary • IMV
muscles of respiration, cyanosis. • Treat the underlying disorder.
Various airway and pulmonary
Figure 7.1.25: Respiratory distress in a neonate parenchymal conditions can
Photo Courtesy: Devaraj Raichur, KIMS, Hubli produce chest retractions.
Respiratory Distress Syndrome (RDS)

Ground-glass appearance of lungs • Most are self-limited.
with air-bronchogram. • Avoid hypothermia.
Borders of the heart are ill-defined. • Warm humidified O2 to maintain
Clinical manifestations: Primarily PaO2 50 to 70 mm Hg.
premature infants, tachypnea, • Surfactant therapy in moderate to
grunting, intercostal and subcostal severe cases of RDS.
retractions, nasal flaring, and
• CPAP/IMV if PaO2 cannot be
duskiness/cyanosis. Later shock
maintained above 50 mm Hg.
ensues.
• Other modalities of treatment are
Breath sounds: Normal or
high frequency ventilation, ECMO
diminished ± fine rales.
Figure 7.1.26: RDS in a neonate and inhaled nitric oxide (iNO).
Retropharyngeal Abscess
(Fig. 7.1.27A) The swelling of face, • Intravenous antibiotics with or
and the torticollis produced by a without surgical drainage.
retropharyngeal abscess. • A third generation cephalosporin
Symptoms: Fever, irritability, with ampicillin-sulbactam or
decreased oral intake and drooling. clindamycin to provide anaerobic
Neck stiffness, torticollis and refusal coverage is effective.
to move the neck. • Patients who have respiratory
Signs: Muffled voice, stridor, and distress or who fail to improve
A
respiratory distress. Physical with intravenous antibiotics can
examination- Bulging of the be treated with surgical drainage.
posterior pharyngeal wall, cervical
lymphadenopathy may be present.
(Fig. 7.1.27B) Lateral X-ray of neck
of the above patient clearly shows
the increased space between the
B
pharyngeal air shadow and the
Figures 7.1.27A and B: (A) Retropharyngeal vertebrae.
abscess; (B) Lateral X-ray of retropharyngeal
abscess Posterior pharyngeal wall is bulging. 127
Photo Courtesy: JK Lakhani, Gadag
Cavitatory Tuberculosis with Necrotizing Bronchopneumonia

(Fig. 7.1.28A) Cavitatory lesions Drug regimen for revised categories
in the right lung with extensive under Rural National Tuberculosis
infiltrates in left lung in a child with Control Programme (RNTCP)
sputum positive tuberculosis. (2011) are:
Cavitatory pulmonary tuberculosis • Cat I (New): 2HRZE3 + 4HR3
A B
is uncommon in children, but may • Cat II (Previously treated):
Figures 7.1.28A and B: Cavitatory tuberculosis be seen, as in this instance.
with necrotizing bronchopneumonia: (A) X-ray
2HRZES3 + 1HRZE3 + 5HRE3
and (B) CT scan (Fig. 7.1.28B) CT scan of the same Steroids—in bronchial obstruction,
Photo Courtesy: Devaraj Raichur, KIMS, Hubli child as above, clearly depicting the massive pleural effusion and miliary
necrotizing nature of the lesions. tuberculosis.
Staphylococcal Pneumonia
Extensive destruction of lung • Cloxacillin or cefazolin- Initial
parenchyma with formation antibacterial for serious infections

of cavities bilaterally is visible thought to be due to methicillin-
indicating staphylococcal susceptible S. aureus (MSSA).
pneumonia. • Vancomycin for the initial
S. aureus produces confluent treatment for penicillin-allergic
bronchopneumonia. individuals and for suspected
Characterized by the presence of serious S. aureus infections
extensive areas of hemorrhagic that might be due to MRSA
necrosis and irregular areas of (Alternatives: linezolid or
Figure 7.1.29: Staphylococcal pneumonia
cavitation of the lung parenchyma, teicoplanin).
ending in pneumatoceles, empyema
or at times, bronchopulmonary
fistulas.
Bilateral consolidation with cavities • Cloxacillin or cefazolin- Initial

is seen. antibacterial for serious infections
thought to be due to methicillin-
susceptible S. aureus (MSSA).
• Vancomycin- for the initial
treatment for penicillin-allergic
individuals and for suspected
serious S. aureus infections
that might be due to MRSA
(Alternatives: linezolid or
teicoplanin).
Figure 7.1.30: Staphylococcal pneumonia

128
Tuberculoma of Right Lung

Calcified nodular (round) lesion Drug regimen for revised categories
involving middle and lower lobe of under RNTCP (2011) are:
right lung is clearly visible. • Cat I (New): 2HRZE3 + 4HR3
• Cat II (Previously treated):
Steroids—in bronchial obstruction,
massive pleural effusion and miliary
tuberculosis.
Figure 7.1.31: Tuberculoma of right lung

Photo Courtesy: Vinod Ratageri, TA Shepur
KIMS, Hubli
Tuberculoma of Right Lung—CT Scan
CT scan depicting the calcified Drug regimen for revised categories

lesion in the right middle lobe under RNTCP (2011) are:
region. • Cat I (New): 2HRZE3 + 4HR3
tuberculosis.
Figure 7.1.32: Tuberculoma of right lung—

CT scan
Tuberculosis—Right Middle Lobe Collapse Consolidation

Collapse consolidation of middle Drug regimen for revised categories
lobe of right lung is evident. under RNTCP (2011) are:
Cardiac Silhouette’s sign • Cat I (New): 2HRZE3 + 4HR3
(obliteration of the right margin of • Cat II (Previously treated):
the heart) is present. 2HRZES3 + 1HRZE3 + 5HRE3
tuberculosis.
Figure 7.1.33: Tuberculosis-right middle lobe

collapse consolidation
Photo Courtesy: Devaraj Raichur and Pushpa
Panigatti, KIMS, Hubli
129
Tuberculosis—Bilateral Paratracheal Lymphadenopathy

The oval opacities on both sides of Drug regimen for revised categories
the lower trachea. under RNTCP (2011) are:
• Cat I (New): 2HRZE3 + 4HR3
tuberculosis.
Figure 7.1.34: Tuberculosis—bilateral

paratracheal lymphadenopathy
Tuberculosis—Hilar Lymphadenopathy
The lymph node prominences in Drug regimen for revised categories
hilar regions. under RNTCP (2011) are:
Lungs are the most common site for • Cat I (New): 2HRZE3 + 4HR3
tuberculosis.The disease in lungs • Cat II (Previously treated):
varies from a small parenchymal 2HRZES3 + 1HRZE3 + 5HRE3
lesion to disseminated disease.
The clinical manifestations depend massive pleural effusion and miliary
on underlying pulmonary lesion. tuberculosis.
TB in children is mostly
Figure 7.1.35: Tuberculosis—Hilar paucibacillary.
lymphadenopathy
Tuberculous Pleural Effusion—Right Side with Hilar Lymphadenopathy

Small pleural collection with Drug regimen for revised categories
obliteration of costophrenic angle under RNTCP (2011) are:
on right side associated with right • Cat I (New): 2HRZE3 + 4HR3
hilar lymphadenopathy is evident.
tuberculosis.
Figure 7.1.36: Tuberculous pleural effusion—

right side with hilar lymphadenopathy
130
Acute Epiglottitis
Potentially lethal condition. – Artificial airway-under controlled
May present with high fever, conditions.
sore throat, dyspnea, and rapidly –O2.
progressing respiratory obstruction. – Antibiotics for 7 to 10 days:
Etiology: • Ceftriaxone,
H. influenzae type b • Cefotaxime, or
Other agents, Streptococcus • Ampicillin + sulbactam.
pyogenes, pneumococci, and
– Indications for rifampin
Staphylococcus aureus.
prophylaxis: (1) any contact <4
Diagnosis: Laryngoscopy—a large, years of age who is incompletely
“cherry red” swollen epiglottis. immunized; (2) any contact <12
X-ray neck (lateral view): “thumb months who has not received the
Figure 7.2.1: Acute epiglottitis—thumb sign sign” of swollen epiglottis. primary vaccination series; or (3)
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla an immunocompromised child in
the household.
Bronchiolitis Obliterans Organizing Pneumonia (BOOP)
BOOP is a fibrosing interstitial lung • Asymptomatic or nonprogressive
disease of unknown etiology and BOOP—only observation.
includes the histologic features • Symptomatic and progressive
of bronchiolitis obliterans. Also disease—oral corticosteroids for
called cryptogenic organizing up to 1 year.
pneumonia. Overall incidence in
• Prognosis: Total recovery in 60 to
general population is 0.01%. Less
80%.
occurrence in children. Presents
like pneumonia, bronchitis or • Acute respiratory distress
A
bronchiolitis. syndrome (ARDS) occurs rarely.
Etiology: is unknown. Thought to be
precipited by adenovirus, measles,
influenza, Pertussis, Legionella,
Mycoplasma.
Other causes: JRA, SLE, scleroderma,
etc. Chest CT demonstrates
patchy areas of hyperlucency and
bronchiectasis (Figs 7.2.2A and B).
BOOP is best diagnosed by open
B
lung biopsy or transbronchial
Figures 7.2.2A and B: (A) Bronchiolitis biopsy.
obliterans organizing pneumonia (BOOP);
(B) BOOP on CT Chest
Photo Courtesy: NK Kalappanavar and S Kavya,
Davangere
131
Bronchogenic Cyst
The cystic lesion in right mid-lower Symptomatic cysts:
zone. Bronchogenic cyst is an • Appropriate antibiotic for
abnormal budding of the tracheal infection
diverticulum of the foregut before
• Surgical excision.
the 16th week of gestation.Most
common site—right side and Asymptomatic cysts: Excised in view
near a midline structure (trachea, of the high rate of infection.
esophagus, carina) symptoms—
Fever, chest pain, productive cough,
and dysphagia chest X-ray—cyst,
which may contain an air-fluid level.
Figure 7.2.3: Bronchogenic cyst
Castleman’s Disease
Mediastinal/Hilar Unicentric disease: surgical resection
lymphadenopathy proved as is curative.
Castleman’s disease (giant or Multicentric disease:
angiofollicular lymph node • No standard therapy available
hyperplasia, lymphoid hamartoma, • Ganciclovir
angiofollicular lymph node • Anti CD20 B-cell monoclonal
hyperplasia) on biopsy as it was antibody, rituximab
persisting after antitubercular • Tocilizumab.
treatment.
Other treatments for multicentric
It is an uncommon noncancerous Castleman disease include the
lymphoproliferative disorder that following:
can involve single lymph node • Corticosteroids
stations or can be systemic. • Chemotherapy
• Thalidomide.
Figure 7.2.4: Castleman’s disease
Photo Courtesy: KE Elizabeth, GMC,
Thiruvananthapuram
132
Congenital Cystic Adenomatoid Malformation (CCAM)

(Fig. 7.2.5A) The large opacity • Antenatal intervention in affected
occupying upper and midzone of infants is controversial but may
the right lung. Incidence—4/100000. include excision of the affected
Presentation: In early infancy— lobe for microcystic lesions,
respiratory distress, recurrent aspiration of macrocystic lesions,
A B respiratory infection and and open fetal surgery.
pneumothorax. In midchildhood— • In the postnatal period, surgery
recurrent or persistent pulmonary is indicated for all symptomatic
infection, relatively acute chest pain. patients.
Breath sounds may be decreased,
C D with mediastinal shift away from
the lesion. (Fig. 7.2.5B) CT scan
Figures 7.2.5A to D: Congenital cystic
adenomatoid malformation (CCAM) of right reveals the fluid filled lesion in right
lung—(A) X-ray; (B) CT scan; (C) Specimen at anterolateral aspect of the chest
surgical resection and (D) Histopathology cavity. (Fig. 7.2.5C) Macroscopic
view of the CCAM depicting the
cystic nature of the specimen at
surgical excision. (Fig. 7.2.5D) The
cystic spaces in this histopathologic
specimen.
Congenital Diaphragmatic Hernia

Bowel loops in the left hemithorax • Mechanical ventilation and
in a neonate with scaphoid oxygen may be required to
abdomen. Diaphragmatic hernia support gas exchange.
is a communication between the • Surgical correction of hernia is
abdominal and thoracic cavities required.
with or without abdominal contents
in the thorax. Types:
• Bochdalek (posterolateral, left
side) 90% of cases.
• Morgagni (anteriorly and right
side).
Presents as respiratory distress at
birth, scaphoid abdomen, bowel
sounds in the chest on auscultation.
Most common associated anomaly
Figure 7.2.6: Congenital diaphragmatic is pulmonary hypoplasia (the
hernia—left posterolateral limiting factor for survival).
133
Congenital Lobar Emphysema

The hyperlucency of the lung on • In children who are less than 2
right hemithorax with mediastinal months of age without severe
shift to the left. symptoms can be observed.
Age of presentation: Usually in • Some patients respond to medical
neonatal period, and in 5% may management.
present up to 5 to 6 months. • Immediate surgery and excision
Signs: Mild tachypnea and wheeze of the lobe may be life saving
to severe dyspnea with cyanosis. when cyanosis and severe
Most common site: Left upper lobe. respiratory distress are present.
Pathology: Overdistension of • Selective intubation of the
Figure 7.2.7: Congenital lobar emphysema—
right lower lobe affected side and atelectasis of unaffected lung may be of value.
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla ipsilateral normal lung may ensue.
Esophageal Atresia with Tracheoesophageal Fistula

Feeding tube looping in the blunt • Maintain patent airway.
pouch in the upper esophagus is • Prevent aspiration by prone

evident. Presence of gas in stomach position and continuous
suggests fistula between trachea and suctioning.
the lower part of the esophagus (most
• Surgical ligation of the fistula and
common type of esophageal atresia).
primary end-to-end anastomosis
Esophageal atresia: Most common of the esophagus.
congenital anomaly of the
• Primary repair cannot be done if
esophagus.
gap between the atretic ends of
Symptoms: Frothing and bubbling the esophagus is >3 to 4 cm.
from mouth and nose after birth,
episodes of coughing, cyanosis,
and respiratory distress, aspiration
Figure 7.2.8: Esophageal atresia with tracheo- pneumonitis
esophageal fistula H-type fistulas presents later with
chronic respiratory problems.
Eventration of the Diaphragm

Eventration of the diaphragm—an • Most eventrations are
abnormal elevation, consisting of asymptomatic; they do not
a thinned diaphragmatic muscle require repair.
producing elevation of the left • Symptomatic eventrations—
hemidiaphragm is seen. repaired by plication through an
Causes: Congenital eventration abdominal or thoracic approach.
(incomplete development of
diaphragm), diaphragmatic paralysis,
traction injury, iatrogenic injury.
Association: Pulmonary
Figure 7.2.9: Eventration of the left sequestration, congenital heart
dome of diaphragm disease, and chromosomal
134 Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla trisomies.
Hypoplasia of the Right Lung

This 3 years old child was treated • Oxygen.
repeatedly for persistent pneumonia • Mechanical ventilation.
without radiological improvement.
• Inhaled nitric oxide for PPHN.
A reduction in volume of right
• Extracorporeal membrane
hemithorax with reduced
oxygenation (ECMO) may help
vascularity and mediastinal shift
for a critical period of time to
to right is seen. Usually presents
permit survival.
as pulmonary hypertension of
newborn (PPHN) in neonatal period • Rib expanding devices in thoracic
and is associated with intrathoracic dystrophies.
SOL, oligohydramnios, thoracic
Figure 7.2.10: Hypoplasia of the right lung anomalies and deficient fetal
Photo Courtesy: NK Kalappanavar movement due to neuromuscular
S Kavya, Davangere disorders. Milder cases present later
with respiratory infections.
Interstitial Lung Disease (ILD)
(Fig. 7.2.11A) Chest X-ray of Supportive care (O2, adequate
interstitial lung disease (ILD) nutrition, and antimicrobial
showing B/L patchy homogeneous treatment for infections). Anti-
opacities. inflammatory treatment with
Children with ILD present with corticosteroids—the initial
dyspnea, tachypnea, cough, exercise treatment of choice. Other
limitation, and frequent respiratory treatments are hydroxychloroquine,
infections. azathioprine, cyclophosphamide,
cyclosporine, methotrexate,
(Fig. 7.2.11B) High-resolution
A intravenous immunoglobulin, and
computed tomography (HRCT): It
pulsed high-dose steroids. Lung
shows the extent and distribution
transplantation for progressive or
of the parenchymal disease. Diffuse
end-stage ILD. Preventive measures
involvement of the most of the lung
are avoidance of all inhalation
parenchyma with ground-glass
irritants such as tobacco smoke,
opacities, or “fibrotic” changes with
molds and bird antigens.
cystic lung disease.
Other investigations: Serology,
genetic studies, BAL and lung
biopsy, and immunological workup.
Figures 7.2.11A and B: (A) Interstitial lung

disease; (B) Interstitial lung disease
S Kavya, Davangere
135
Neuroblastoma (Secondary) with Right Pleural Effusion and 7th Rib Erosion
In this case, FNAC confirmed the Treatment for low-risk (stages 1
diagnosis. Primary was found in the and 2) neuroblastoma is surgery.
right adrenal. Observation for stage 4S. Treatment
Neuroblastoma (NB), the 3rd most with chemotherapy or radiotherapy
common pediatric cancer, is an for the rare child with recurrence
A B embryonal cancer of the peripheral can be curative. Treatment for
Figure 7.2.12: Neuroblastoma (secondary) sympathetic nervous system. intermediate risk neuroblastoma
with right plueral effusion: (A) X-ray showing Usually arises in the adrenal gland are surgery, chemotherapy and in
erosion of the right 7th rib (arrow) and some cases radiotherapy. Treatment
(B) Ultrasound image
or in retroperitoneal sympathetic
ganglia. Histologically, it may of high-risk neuroblastoma is
resemble other small round cell induction chemotherapy with or
tumors. NB can present as a without resection followed by focal
paraneoplastic syndrome—ataxia or radiation.
opsomyoclonus (dancing eyes and
dancing feet). Most common sites of
metastasis are long bones and skull,
bone marrow, liver, lymph nodes,
and skin.
Pulmonary Agenesis
Complete absence of left lung, left • Conservative treatment is usually
bronchus, mediastinal shift to the recommended.
left are evident. • Surgery in selected cases.
Pulmonary agenesis is likely to be
autosomal recessive.
Symptoms: Related to central airway
complications of stenosis and/or
tracheobronchomalacia.
Associations: VACTERL sequence,
ipsilateral facial and skeletal
Figure 7.2.13: Pulmonary agenesis left side malformations, central nervous
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla system and cardiac malformations.
Tumors
Pleuroblastoma is a malignant • Type I treated with surgery with
tumor arising from pleura or without chemotherapy.
Non-specific respiratory symptoms • Type II and III treated with
occur. surgery and chemotherapy with
Three pathologic subtypes: or without radiotherapy.
• Type I: Purely cystic
• Type II: Cystic and solid
• Type III: Solid.
Imaging (X-ray, CT, MRI) helps to
determine the presence and precise
Figure 7.2.14: Pleuroblastoma, left side, with location of the tumor.
erosion of right 9th rib (arrow)
136 Photo Courtesy: Devaraj Raichur,
HS Surendra, KIMS, Hubli
7.3 EMERGENCY SITUATIONS
Closed Pneumothorax
Pneumothorax is present but is not • Conservative management
under tension. with O2, and other supportive
Mediastinal shift is absent. measures usually resolves the
pneumothorax.
Cardiovascular status: Stable.
• Close monitoring to detect
the progression to tension
pneumothorax at the earliest is
essential.
Figure 7.3.1: Right sided closed pneumothorax

in a neonate
False Foreign Body in the Chest
Radiopaque substances outside Proper history of conditions during
the chest wall can sometimes be the shooting of the X-ray and
mistaken for a “foreign body”. a thorough examination of the
patient’s attire and ornaments can
clarify the issue.
Figure 7.3.2: False foreign body in the chest

137
Foreign Body Aspiration

A. This case initially presented with • Prompt endoscopic removal with
left lower lobe consolidation. Usual rigid instruments (Bronchoscopy
sequence of events of a foreign body is both diagnostic and
are: therapeutic).
• Initial event (1st stage)—violent • Adequate hydration and empty
paroxysms of coughing, choking, stomach before bronchoscopy.
gagging, and possibly airway • Airway foreign bodies are usually
obstruction occur immediately. removed at the earliest after
• Asymptomatic interval (2nd diagnosis.
stage)—the foreign body becomes
lodged, reflexes fatigue, and the
A immediate irritating symptoms
subside. This stage is most
deceitful and results in delayed
diagnoses.
• Complications (3rd stage)—
obstruction, erosion, pneumonia,

and atelectasis.
It is the important cause of recurrent
and persistent pneumonia.
B. After admission hyperinflation
of left lung developed; expiration
B pronounced the air-trapping,
Figures 7.3.3A and B: Foreign body aspiration: indicating a foreign body
(A) With pneumonia on admission and obstruction.
(B) Hyperinflated left lung during hospital stay
Foreign Body Right Bronchus

Right lung collapse with • Prompt endoscopic removal with
herniation of left upper lobe with rigid instruments (Bronchoscopy
compensatory emphysema of right is both diagnostic and
upper lobe. therapeutic).
• Adequate hydration and empty
stomach before bronchoscopy.
• Airway foreign bodies are usually
removed at the earliest after
diagnosis.
Figure 7.3.4: Foreign body right bronchus

Photo Courtesy: Vinod Ratageri, TA Shepur
KIMS, Hubli
138
Pneumothorax
Left lung is collapsed with massive • In emergency: Needle
pneumothorax. Heart and thoracostomy
mediastinum shifted to the right. • Conservative management—
Pneumothorax is presence of air small to moderate sized
within the pleural space. pneumothorax
Types: Primary or secondary and • Chest tube drainage—tension or
can be spontaneous, traumatic, recurrent pneumothorax
iatrogenic, or catamenial • Chemical pleurodesis or open
Primary spontaneous: thoracotomy—pneumothorax
Pneumothorax without trauma or complicating malignancy
underlying lung disease. • Open thoracotomy and plication
Figure 7.3.5: Tension pneumothorax—left side Secondary spontaneous: of blebs, closure of fistula,
Photo Courtesy: Vinod Ratageri,
TA Shepur, KIMS, Hubli Complication of an underlying lung stripping of the pleura, and
disorder but without trauma. basilar pleural abrasion
• Video-assisted thoracoscopic
surgery.
• Treatment of the underlying
pulmonary disease.
RDS on Ventilator—Tension Pneumothorax

The air in pleural space with • Initial needle drainage followed
collapse of right lung with by intercostal tube drainage of the
mediastinal shift to the left. pneumothorax.
Right dome of diaphragm is • Low mean airway pressure, lower
flattened. inspiratory time and O2 help early
High pressure exerted on the open resolution of the pneumothorax.
alveoli during an attempt to open/
recruit the atelectatic alveoli results
in air-leak.
Figure 7.3.6: RDS on ventilator–tension

pneumothorax on right side
139
7.4 SYNDROME
Swyer-James MacLeod Syndrome (SJMS)

This X-ray shows the right lung not No specific treatment is known; it
growing normally and is slightly may become less symptomatic with
smaller than the opposite lung. time.
Diagnostic features are pulmonary
hyperlucency, caused by
overdistention of the alveoli in
conjunction with diminished
arterial flow, often a manifestation
of postinfectious obliterative
bronchiolitis.
Figure 7.4.1: Swyer-James MacLeod syndrome
(SJMS)
Photo Courtesy: KE Elizabeth, GMC,
Thiruvananthapuram
7.5 MISCELLANEOUS
Equipment for Asthma Therapy

Equipment shown are: With MDIs, use of a spacer device is
PEFR-meter (peak-flow-meter) advisable irrespective of the age for
a better drug delivery.
MDIs (metered dose inhalers)
DPIs (dry powder inhalers)
Breath actuated MDIs
Spacer
Baby mask.
Figure 7.5.1: Some of the equipment used in
asthma therapy
Hydatid Cyst—X-ray Chest

This is the chest X-Ray of 8 years • Albendazole -15 mg/kg/
old child showing a well defined day divided bid PO for 1 to 6
homogenous opacity in left upper months (28 days on, 14 days
zone suggestive of cystic lesion off ), maximum 800 mg/day.
(Fig. 7.5.2A). For simple, accessible cysts,
A cross section in CT shows intra- ultrasound- or CT-guided
parenchymal cyst. percutaneous aspiration,
instillation of hypertonic saline
A On surgery hydatid cyst was
or another scolicidal agent,
confirmed (Fig. 7.5.2B).
and reaspiration (PAIR) is the
preferred therapy.
• Surgical removal.
B
Figures 7.5.2A and B: (A) Hydatid cyst—X-ray

chest; (B) Hydatid cyst—CT scan chest
140 S Kavya, Davangere
Nebulizer
Nebulizer shown here is of Oxygen 6 to 8 liters/min flow is
compressor variety. required or compressed air can
Other types are: be used. In acute conditions,
nebulization may be given every 20
• Ultrasonic
min in the first hour; 8 to 10 min per
• Oxygen driven procedure.
Nebulizers are used to produce mist
out of respirator solutions.
A
B
Figures 7.5.3A and B: (A) Nebulizer; (B)

Nebulizer-chamber
Equipment for Resuscitation and O2 Therapy

Equipment shown here are: While O2 mask and nasal cannula
O2 mask. are low-flow O2-delivery systems,
others are high-flow systems. In
O2 hood.
emergencies, high-flow O2-delivery
Nasal cannula. systems should be used.
Oxygen tube.
Self inflating manual resuscitator.
A Facemask.
Laryngoscope with straight and
curved blades.
Endotracheal tubes.
Non-rebreathing O2 mask—is a
high-flow oxygen delivery system
(Fig. 7.5.4B); by virtue of its valve
system, it can deliver nearly 100% O2.
Figures 7.5.4A and B: (A) Some of the

equipment used in resuscitation and O2
therapy, (B) Non-rebreathing O2 mask
Photo Courtesy: Devaraj Raichur, KIMS, Hubli 141
Paraesophageal Hiatus Hernia (PEHH)

(Fig. 7.5.5A) X-ray of a 7-day-old Surgical repair with Nissen
baby with tachypnea since birth, fundoplication and gastropexy.
showing stomach in the thorax. The
gastroesophageal junction was in
the abdomen.
Hiatus hernia: Herniation of the
A stomach through the esophageal
hiatus. Two types:
• Sliding hernia—The
gastroesophageal junction slides
into the thorax
• PEHH—Portion of the stomach is
B
insinuated next to the esophagus
inside the gastroesophageal
junction in the hiatus.
• Position of the feeding tube is
suggestive of the diagnosis.

(Fig. 7.5.5B) PEHH consists of
displacement of stomach into
thoracic cavity along side of
esophagus, which remains in
its normal position without any
derangement of gastroesophageal
sphincter. PEHH seen at all ages,
rarer in children, but rarely presents
C
in the neonatal period.
Figures 7.5.5A to C: Paraesophageal hiatus
hernia: (A) Plain X-ray; (B) X-ray chest, lateral
(Fig. 7.5.5C) The upper GI tract
view with Ryle’s tube in the intrathoracic contrast study is diagnostic.
stomach and (C) Barium study
Falling Percentiles: Is it Abnormal?

When repeated respiratory If the growth percentiles fall below
infections occur in an otherwise 80% of the expected, one should
healthy child, the fall in the growth investigate for other associated
percentiles usually will not be below problems.
80% of the expected for the child.
142
Figure 7.5.6: Repeated ARIs: Falling percentiles
Thymus—Sail Sign
Imaging characteristics of normal • No treatment is necessary;
thymus are: misinterpretation as an abnormal
• Soft, molds to rib (wave sign of mediastinal mass should be
Mulvey) avoided.
• Does not displace trachea or • During recovery from lymphoma
vessels chemotherapy, a shrunken
(due to stress) thymus may
• Sharp, smooth, slightly convex
start enlarging giving a false
borders
impression of residual lymphoma
• Homogeneous appearance or its recurrence.
• Variability in size.
Stress, sickness, and steroids reduce
the thymic size.
In DiGeorge’s syndrome, thymus is
absent.
On Chest X-ray, thymus is most
Figure 7.5.7: Thymus—Sail Sign prominent in infancy; it involutes
Photo Courtesy: TU Sukumaran, PIMS, Thiruvalla from 1st year of life only, and
becomes less prominent in
childhood; after puberty, it is
usually.
143
Section 8
Gastrointestinal
System and
Hepatology
Section Editors
Malathi Sathiyasekaran, A Riyaz
Photo Courtesy
Malathi Sathiyasekaran, A Riyaz, B Sumathi, S Srinivas, VS Sankaranarayanan

8.3 GI Emergencies
8.4 Syndromes
Section Outline
8.1 COMMON CONDITIONS 147 ♦ Solitary Rectal Ulcer 158
♦ Acute Pancreatitis 147 ♦ Tense Ascites with Engorged Anterior Abdominal
♦ Biliary Atresia 147 Veins 158
♦ Budd-Chiari Syndrome (BCS) 147 ♦ Ulcerative Colitis 158
♦ Cholestasis with Pruritus 148 ♦ US Showing Choledochal Cyst 159
♦ Clubbing of Fingers 148 ♦ US Showing Cholelithiasis 159
♦ Corrosive Stricture Esophagus 148 ♦ Villous Atrophy in Celiac Disease 159
♦ Crohn’s Disease: Colonic 149 ♦ Vitamin A Deficiency in Cholestasis 160
♦ Decompensated Liver Disease 149
8.2 UNCOMMON CONDITIONS BUT NOT RARE 160
♦ Duodenal Ulcer, Helicobacter Pylori Rapid Urease
♦ Acanthosis Nigricans in Non-Alcoholic Fatty Liver Disease
Positive 149
(NALFD) 160
♦ Esophageal Varices 150
♦ Achalasia Cardia 160
♦ Fissure in Ano 150
♦ Acrodermatitis Enteropathica 161
♦ Foreign Body Stomach 150
♦ Congenital Esophageal Stenosis 161
♦ Gastric Ulcer 151
♦ Congenital Hepatic Fibrosis 161
♦ Glycogen Storage Disorder (GSD) 151
♦ Multiple Infantile Hemangioma Liver—CT Angio 162
♦ Gross Thickening and Lichenification of Skin in Low GTP
♦ Pseudoaneurysm Communicating with Hematoma and
Cholestasis 151
Bile Duct 162
♦ Habitual Constipation 152
♦ Umbilical and Ventral Herniae in Child with Chronic Liver
♦ Hirschsprung’s Disease 152
Disease (CLD) 162
♦ Ileocolonic Tuberculosis 152
♦ Juvenile Polyp (JP): Sigmoid Colon 153
8.3 GI EMERGENCIES 163
♦ Kayser Fleicher (KF) Ring 153
♦ Biliary Ascariasis 163
♦ Lymphonodular Hyperplasia: Colon 153
♦ Button-Battery Ingestion 163
♦ Malrotation with Midgut Volvulus 154
♦ Coagulopathy in Acute Liver Failure 163
♦ Massive Splenomegaly 154
♦ Food Impaction in Esophagus 164
♦ Neonatal Cholestasis Syndrome 154
♦ Intussusception 164
♦ Oral Apthous Ulcers 155
♦ Scalp Hematoma in Neonatal Cholestasis Syndrome 164
♦ Palmar Erythema 155
♦ Variceal Bleeding 165
♦ Pancreatic Calcification 155
♦ Perianal Excoriation 156 8.4 SYNDROMES 165
♦ Pseudocyst Pancreas 156 ♦ Alagille Syndrome 165
♦ Reflux Esophagitis 156 ♦ Hennekam’s Syndrome 165
♦ Scalloped Duodenal Mucosa 157 ♦ Peutz-Jeghers Syndrome 166
♦ Scleral Icterus 157 ♦ Verner-Morrison Syndrome 166
♦ Series of Children with EHPVO 157 ♦ Wolman’s Syndrome 166
Acute Pancreatitis
Acute pancreatitis in children can Management of acute pancreatitis
be due to trauma, infection, biliary depends on the severity. The
causes, drugs, metabolic, pancreas majority are categorized as mild.
divisum, autoimmune. Severe acute pancreatitis requires
Elevated amylase and or lipase intensive care. IV fluids, oxygen and
> 3 UL/N along with ultrasound early nutrition help in recovery.
findings of acute pancreatitis helps Specific therapy is reserved for
in diagnosis. Contrast enhanced those with choledochal cyst, CBD
computerized tomography (CECT) stones, biliary ascariasis.
abdomen is useful to confirm

diagnosis and in assessing severity.
Figure 8.1.1: CT scan showing edematous
pancreas with areas of necrosis
Photo Courtesy: Malathi Sathiyasekaran
Biliary Atresia
Biliary atresia is an important Kasai surgery should be done
surgical cause of prolonged as soon as diagnosis is made
cholestasis of infancy. Presents with preferably before 60 days of age.
high colored urine, pale stools and Biliary cirrhosis with PHT and
direct hyperbilirubinemia. Infant end stage liver disease occurs in
is initially fairly well preserved. all children who do not undergo
Perioperative cholangiogram with surgery or with failed Kasai. Liver
liver biopsy is diagnostic. transplant is the best option.
A B
Figures 8.1.2A and B: Biliary atresia/post kasai

Budd-Chiari Syndrome (BCS)

Classical BCS is hepatic venous Definite therapeutic interventional
outflow obstruction characterized radiology and stenting the site of
by involvement of the main obstruction is effective. Surgery if
hepatic veins with or without shunt is not possible. Prothrombotic
IVC obstruction resulting in causes need to be managed with
postsinusoidal portal HT. Massive anticoagulants.
ascites, prominent anterior
abdominal veins and back veins are
the clues to diagnosis. Ultrasound
and Doppler are useful in detecting
A B site of obstruction.
Figures 8.1.3A and B: Budd-Chiari syndrome
147
Cholestasis with Pruritus

Pruritus is an important symptom of • Control of pruritus may be tried
chronic cholestasis. Possibly due to with urso deoxycholic acid, on-
deposition of substances normally dansetron, naloxone, rifampicin.
excreted in bile in skin.Symptoms • Partial biliary diversion offers
usually start by the age of 7th relief in some children.
months. Child is irritable. Elevated
• Liver transplant is recommended
direct bilirubin and high alkaline
when itching is incalcitrant.
phosphatase (ALP) are the two
important biochemical findings.
Figure 8.1.4: Cholestasis with intense pruritus

Clubbing of Fingers
Pan clubbing of fingers is a • No specific treatment for club-
characteristic feature of chronic bing.
liver disease such as cirrhosis. Helps • It is seen in chronic liver disease
to differentiate acute from acute on and even regresses after liver
chronic liver disease. transplantation.
Figure 8.1.5: Clubbing of fingers

Corrosive Stricture Esophagus
Accidental corrosive ingestion is • Steroids have no role unless there

the most common yet preventable is aerodigestive tract involvement.
cause of esophageal stricture. • Nutritional support is very es-
Child presents with GI bleed, chest sential.
pain and dysphagia. • Endoscopic dilatation can be
Both acid and alkali can cause started after 6 weeks.
stricture.
148 Figure 8.1.6: Corrosive injury esophagus

Crohn’s Disease: Colonic

Crohn’s disease is a chronic • Treatment depends on the site
inflammatory bowel disease and severity of involvement.
involving the GIT from oral cavity to • 5-Aminosaticylic acid (ASA),
anus with associated extraintestinal steroids, immunosuppressives
manifestations. Presents with are the main medications used in
bleeding PR, abdominal pain, fever therapy.
and extraintestinal manifestations.
• Biologic therapy such as inflixi-
Skip lesions on colonoscopy with
mab helps in rapid mucosal heal-
transmural ulcers and granuloma
A B ing and is useful in fistulae.
on histopathology is diagnostic.
Figures 8.1.7A and B: Irregular ulcers skip
lesions Photo Courtesy: Malathi Sathiyasekaran

Decompensated Liver Disease
Decompensated liver disease is Supportive salt restricted diet.
characterized by firm liver, ascites Diuretics, therapeutic paracentesis,
pedal edema, splenomegaly and Albumin transfusion. Third
dilated abdominal veins. May generation cephalosporins for
be due to HBV, HCV, metabolic, bacterial peritonitis.
autoimmune or vascular causes.
May present with GI bleed, hepatic
encephalopathy, resistant ascites,
spontaneous bacterial peritonitis,
hepatorenal syndrome.
Figure 8.1.8: Cirrhosis liver

Photo Courtesy: VS Sankaranarayanan
Duodenal Ulcer, Helicobacter Pylori Rapid Urease Positive

H. pylori resides in the antral • Treatment is recommended
mucosa producing urease which with in children with endoscopic
helps in its survival and also in changes and showing H. pylori on
diagnosis. Urease changes the pH biopsy.
of the medium from yellow to pink • Triple therapy with PPI and
when urea is converted to ammonia 2 antibiotics amoxicillin and
(rapid urease test). H. pylori is clarithromycin or PPI, amoxicillin
classified as class I carcinogen and with metronidazole twice a day
can cause chronic gastritis, gastric for 10 days.
ulcer, duodenal ulcer, maltoma and
gastric cancer.
A B
Figures 8.1.9A and B: Duodenal ulcer and
positive rapid urease test
149
Esophageal Varices
Esophageal varices is seen in all the • Varices are managed endoscopi-
three types of Portal HT . cally.
Endoscopy helps both in diagnosis • In presinusoidal PHT surgical
and therapy. shunts may be beneficial.
Cherry spots, red wale sign, large
varices may predict UGI bleed.
Figure 8.1.10: Esophageal varices

Fissure in Ano
Fissure in ano is the most common • Treatment is primarily to avoid

cause of painful defecation and constipation and straining during
chronic intermittent minor bleed in defecation.
all age groups. • High fiber diet is beneficial.
Usually is initiated by passage of • Short course of antibiotics with
hard stools. analgesic is helpful during the
Multiple fissures in ano may be a painful episode.
sign of sexual abuse.
Figure 8.1.11: Fissure in ano

Foreign Body Stomach

Coins are the most common foreign Coins if need to be removed can be
bodies swallowed by children. done using FB removing basket or
Coins in the stomach will usually be rat tooth forceps.
passed naturally.
If the coin is present for more than 1
week it is unlikely to pass naturally.
Figure 8.1.12: Coin in stomach

150
Gastric Ulcer
In children gastric ulcer are usually • NSAIDs are stopped and pro-
secondary to NSAIDs. ton pump inhibitors (PPIs) are
They can present with abdominal started.
pain, vomiting or gastrointestinal • IV PPIs, if there is a bleed.
bleed. • Sucralfate also helps in healing of
Endoscopy helps in diagnosis. ulcer.
Biopsy may be taken for
histopathology and for H. pylori.
Figure 8.1.13: Endoscopy showing gastric ulcer


Glycogen Storage Disorder (GSD)
GSD most common metabolic liver Avoid hypoglycemia. Encourage
disease, AR, due to specific enzyme day and night feeds. Uncooked corn
deficiency resulting in accumulation starch 1 to 2 gm/kg 4 to 5 times/day.
of glycogen in liver, muscle, heart, Avoid simple sugars.
kidneys. Type I and III common.
Features: Doll like facies, massive
hepatomegaly, hypoglycemia,
voracious appetite, early morning
seizures.
Figure 8.1.14: Massive hepatomegaly in GSD I

Photo Courtesy: A Riyaz
Gross Thickening and Lichenification of Skin in Low GTP Cholestasis

Gross thickening and lichenification • Partial biliary diversion relieves
of the skin is a feature seen in itching to some extent.
cholestasis with low glutamyl • The dermatological findings also
transpeptidase (GTP) cholestasis improve with surgery.
especially progressive familial
intrahepatic cholestasis (PFIC)
1 and 2.
Low GTP is the clue to the diagnosis.
Liver disease is progressive. PFIC
1 is associated with additional
Figure 8.1.15: Gross thickening of skin
pancreatic and intestinal
Photo Courtesy: Malathi Sathiyasekaran involvement.
151
Habitual Constipation
Habitual or functional constipation • Effective therapy is a combination
is the most common cause of of bowel training, dietary changes
chronic constipation. A vicious cycle and medication with stool
is triggered by a painful defecation, softeners and laxatives.
voluntary withholding of stools, • Parents should be patient and
retention in rectum, megarectum, understand that therapy may be
painful stretch of anal canal and prolonged.
further retention. Barium enema
• Polyethylene glycol and lactulose
shows dilated colon up to anal
are two very effective drugs.
verge. Rectoanal inhibitory reflex
(RAIR) is present.
Figure 8.1.16: BE showing features of habit
constipation
Photo Courtesy: B Sumathi
Hirschsprung’s Disease
Hirschsprung’s disease is a Surgery is the treatment of choice.

congenital disorder of intestinal
aganglionosis due to arrested fetal
development of the myenteric
nervous system.
Presents with delay in the passage of
meconium and constipation. There
is no voluntary withholding or fecal
soiling which is a feature of habit
constipation.
Figure 8.1.17: BE showing the transition zone

with proximal dilatation
Ileocolonic Tuberculosis
Abdominal tuberculosis has various • Anti TB treatment with 4 drugs
forms of presentations. Luminal R/H/E/Z for 2 months followed
tuberculosis presents as diarrhea, by RH for 5 to 7 months is the
bleeding PR or obstruction. recommendation.
Ileum is the most common site of • Surgery is offered only for those
involvement. Biopsy of the lesions with stricture and obstruction.
identified during colonoscopy
helps in diagnosis. Presence of
A B caseating granuloma with AFB is
Figures 8.1.18A and B: Ileocolonic irregular confirmatory.
152 ulcers on colonoscopy
Juvenile Polyp (JP): Sigmoid Colon

Juvenile polyp is a common cause of • Treatment is by polypectomy
bleeding per rectum in children. using a diathermy snare and
JPs are cherry red, smooth electrosurgical unit connected to
pedunculated hamartomatous a colonoscope.
polyps usually seen in the rectum. • Polyp should be retrieved for
Single polyps do not have a HPE.
malignant potential. • When there are multiple polyps
child needs surveillance since
juvenile polyposis coli has a
malignant potential but less than
Figure 8.1.19: Cherry red polyp familial adenomatous polyposis.

Photo Courtesy: S Srinivas
Kayser Fleicher (KF) Ring

KF ring is a pigmented sclero • Diet: Avoid copper containing
corneal ring seen in Wilson’s food like nuts, chocolates, shell
disease. fish. Chelation is done with D
WD is an inherited disorder of Cu pencillamine, trientene.
metabolism with accumulation • Oral Zinc is prescribed along with
of copper in various tissues pencillamine as metallothinein
Phenotypes: hepatic, neurological Liver transplant is recommended
or mixed. Low ceruloplasmin, KF in acute liver failure.
ring and high urine copper help in
diagnosis.
Figure 8.1.20: Slit lamp showing KF ring

Lymphonodular Hyperplasia: Colon

Lymphonodular hyperplasia is a • If CMPA is diagnosed all animal
common finding in children and milk protein in the form of milk
may be a manifestation of cow’s and milk products is avoided till
milk protein allergy. On endoscopy the age of 1 year.
they appear as small sago like • Majority will be able to tolerate
granules or nodules with a central milk protein after the age of 1
dot. May present with bleeding PR. year. In some it may take 3 years
Biopsy shows lymphoid aggregates. for recovery.
If eosinophilic colitis is present a
diagnosis of Cow’s milk protein
A B allergy (CMPA) may be considered.
Figures 8.1.21A and B: Lymphonodular
hyperplasia colon
153
Malrotation with Midgut Volvulus

Malrotation of gut is a common Surgery is the only treatment once
rotational congenital anomaly of diagnosed.
the gut seen in children. When it
occurs with midgut volvulus the
characteristic “whirlpool sign”
formed by the SMV along with the
mesentery wrapping around the
SMA in a clock wise pattern is seen.
Presents as abdominal pain and
bilious vomiting.
A B
Figures 8.1.22A and B: CT with whirlpool sign

Massive Splenomegaly
Massive splenomegaly could be due • Biopsy and histopathology of the

to tropical splenomegaly syndrome, scalloped mucosa will reveal the
Kala-azar, HIV, presinusoidal portal degree of villous atrophy.
hypertension, hemolytic anemia, • Management depends on the
Juvenile myeloid leukemia, hairy underlying disease.
cell leukemia, Gaucher’s disease,
• Treat the underlying cause.
Niemann Pick disease and tumours
Splenectomy indicated only if
of spleen. CBC, Peripheral smear,
there is hypersplenism, tumors
Bone marrow, UGIE and US of
or SOL of spleen.
Figures 8.1.23: Massive splenomegaly
abdomen help in diagnosis.
Neonatal Cholestasis Syndrome

Neonatal cholestasis syndrome • Awareness to recognize infants
(NCS) is a heterogenous disorder with high colored urine and direct
characterized by high colored bilirubin more than 20% of total is
urine, pale stools and direct very crucial.
hyperbilirubinemia. • BA should be identified and
Sixty percent of NCS are due to referred to surgeon at the earliest.
intrahepatic causes which could Treatable causes of NCS should
be idiopathic, infective, metabolic, be identified and managed ap-
A B
chromosomal, endocrine or propriately.
anatomical.
Figures 8.1.24A and B: Infants with NCS pale
stools and high colored urine
154
Oral Apthous Ulcers

Recurrent apthous ulcers is usually • Local application of anesthetic
idiopathic however it may be an gel.
extraintestinal manifestation of • Gargling with antibiotics, admin-
Crohn’s disease. Various theories istration of probiotics and anti
including H. pylori have been H. pylori therapy have all been
implicated in its etiopathogenesis. tried for the recurrent apthous
These ulcers are discrete, punched ulcers without any identifiable
out may be single or multiple and cause.
painful.
Figure 8.1.25: Apthous ulcers

Photo Courtesy: VS Sankaranarayanan
Palmar Erythema
Palmar erythema or liver palms is • No specific treatment is necessary
an important stigmata of chronic for the liver palms.
liver disease. • It helps in suspecting chronic
Palms are warm with bright red liver disease.
color over the thenar, hypothenar
prominences and pulp of fingers.
Figure 8.1.26: Palmar erythema

Pancreatic Calcification
Chronic calcific pancreatitits (CCP) • Pain due to pancreatic stone may
may be due to tropical, hereditary or be managed with endotherapy.
idiopathic pancreatitis. • Extracorporeal short wave lithot-
Stones may be intraductal or acinar. rypsy (ESWL) followed by stone
Abdominal pain, diabetes and removal is recommended for
steatorrhea are the main features of large intraductal stones.
CCP.
Complications such as pancreatic
ascites and pseudocyst are
common.
Figure 8.1.27: Pancreatic calcification

155
Perianal Excoriation
Perianal excoriation in infants is • Infants on exclusive breast milk
due to the frequent passage of acidic should be supervised and hind
stools as seen in lactose intolerance. milk given.
Congenital lactose intolerance is • Those on artificial feeds may be
very rare. Transient and secondary switched over to low or non-
lactose intolerance are common. lactose formulae.
Low pH, positive reducing
substance in stools is diagnostic.
Figure 8.1.28: Severe perianal excoriation

Pseudocyst Pancreas
Pseudocyst of the pancreas is Therapeutic intervention can
usually a local sequel of acute or be either endoscopic or surgical
chronic pancreatitis. These cysts depending on the position and
consist of fluid collections in the relation to surrounding vessels.
lesser sac of the peritoneum or
anywhere in the vicinity of the
pancreas.
Presents as pain, mass, jaundice and
vomiting. Infection, hemorrhage
and rupture are common
complications of pseudocyst.
Figure 8.1.29: CT scan: Pseudocyst of pancreas
Reflux Esophagitis
Gastroesophageal reflux • Proton pump inhibitors are very
is physiological whereas useful in controlling the symp-
gastroesophageal reflux disease toms of reflux disease.
(GERD) is pathological and • Fundoplication is reserved for
manifests either with esophageal those who do not respond to
or extraesophageal symptoms medical therapy.
such as asthma, recurrent cough.
Endoscopy helps in differentiating
erosive from nonerosive esophagitis.
Figure 8.1.30: Endoscopy showing grade A

erosive esophagitis
156 Photo Courtesy: Malathi Sathiyasekaran
Scalloped Duodenal Mucosa

Scalloping of duodenal mucosa • Biopsy and histopathology of the
seen on endoscopy indicates villous scalloped mucosa will reveal the
atrophy. degree of villous atrophy.
The most common cause of villous • Management depends on the
atrophy in India is celiac disease. underlying disease.
Other causes of scalloping are
tropical enteropathy, malnutrition
and parasitic infestations.
Figure 8.1.31: Scalloped duodenal mucosa


Scleral Icterus
Jaundice is a symptom which can Acute viral hepatitis requires
be due to a hemolytic, hepatic or only supportive treatment. In
obstructive cause. Most common the presence of atypical features.
cause of jaundice is viral hepatitis Nonviral hepatitis such as typhoid
usually due to hepatitis A, E and B hepatitis, malaria, leptospirosis
virus. Presence of urine bile salts, should be excluded and specific
bile pigments, elevated serum treatment given.
bilirubin and transaminases is
diagnostic of hepatitis.
Figure 8.1.32: Jaundice/scleral icterus

Series of Children with EHPVO
Extrahepatic portal venous • Endoscopic management of

obstruction (EHPVO) is the variceal bleed and surgical cor-
most common cause of portal rection with shunts when feasible
hypertension in India. Presents with is recommended.
major GI bleed and splenomegaly. • Portal biliopathy a late complica-
Ascites, pedal edema and tion is managed with ERCP or
abdominal veins are usually not surgery.
present. Upper gastrointestinal
endoscopy (UGIE) and US
diagnostic.
Figure 8.1.33: EHPVO: isolated splenomegaly, no

pedal edema, no ascites or abdominal veins
Photo Courtesy: Malathi Sathiyasekaran 157
Solitary Rectal Ulcer

Solitary rectal ulcer syndrome is a • Bowel training, avoiding consti-
defecation disorder characterized pation, high fiber diet and bio
by mucorrhea, bleeding PR and feed therapy help in controlling
straining during defecation. SRUS symptoms.
need not be single or in the rectum • 5-ASA, topical sucralfate, laser
or similate an ulcer on colonoscopy. have all been tried. Surgery is re-
Histopathology examination (HPE) served for those with major bleed
shows fibromuscular obliteration of not amenable to medical therapy.
lamina propria.
Figure 8.1.34: Solitary rectal ulcer

Tense Ascites with Engorged Anterior Abdominal Veins

Ascites or free fluid in the peritoneal • Ascites secondary to chronic liver
cavity could occur secondary to disease is managed with fluid and
cirrhosis, renal disease, congestive salt restriction.
cardiac failure, peritoneal pathology • Diuretics spirinolactone with or
or as pancreatic ascites. without frusemide.
Diagnostic paracentesis and • Large volume paracentesis with
estimation of cells, protein, serum albumin replacement 6 gm/L of
ascites albumin gradient (SAAG), fluid removed.
adenosine deaminase helps in
• Transjugular intrahepatic porto
diagnosis.
systemic shunt is recommended
when medical treatment fails.
Figure 8.1.35: Tense ascites

Ulcerative Colitis
Ulcerative colitis is a form of • Treatment depends on the site
inflammatory bowel disease and severity of involvement.
(IBD) seen in children though less • ASA, steroids and immunosup-
common than in adults. Presents pressives constitute the back
as bleeding PR, diarrhea, fever, bone of treatment.
abdominal pain characterized
• Total colectomy is reserved for
by continuous inflammation of
patients with toxic megacolon or
colon but restricted to mucosa and
severe bleeding.
submucosa with areas of erythema,
ulcers and easy contact bleed.
Histopathological examination
(HPE) shows cryptitis and crytpt
Figure 8.1.36: Colitis on colonoscopy
158 Photo Courtesy: Malathi Sathiyasekaran
abscess.
US Showing Choledochal Cyst

Choledochal cyst (CC) is a Since choledochal cyst is 100%
congenital dilatation of the common premalignant surgery is the
bile duct with or without dilatation only option except in type III
of the intrahepatic radicles. The (choledochocele) which can be
most common is type I which is a managed with therapeutic ERCP.
spherical cystic dilatation of the
common bile duct (CBD) distal
to cystic duct. Jaundice, mass,
abdominal pain is a common triad.
CC is a premalignant lesion.
Figure 8.1.37: US showing choledochal cyst

US Showing Cholelithiasis
Gallstones (GS) in children are Medical dissolution is not

less common than in adults. They effective in pediatric pigment GS.
are usually pigment stones. The Ursodeoxycholic can be given for
etiology may be idiopathic, familial, dissolution of sludge, cholesterol
hemolytic, metabolic or secondary stones and microlithiasis.
to liver disease. In the majority Cholecystectomy is recommended
the stones are incidental finding. only for symptomatic children or
Child is asymptomatic or presents those with underlying hemolysis,
with pain, jaundice, cholangitis or large stones and contracted gall
pancreatitis. bladder.
Figure 8.1.38: US showing gallstones
Villous Atrophy in Celiac Disease

In villous atrophy the normal long, • Lifelong gluten-free diet (GFD) is
elongated leaf like villi are replaced the principle in management.
by blunt and flat mucosa. • Child has to avoid foods contain-
Villous atrophy on histopathology ing wheat, rye and barley.
and presence of tissue trans- • Children on GFD do well and the
glutaminase antibody is diagnostic villi return to normal morphol-
of celiac disease. ogy.
Figure 8.1.39: Villous atrophy duodenal mucosa

159
Vitamin A Deficiency in Cholestasis

Fat soluble vitamins A, D, E and K • Parenteral vitamin A should be
need bile salts for absorption. given at regular intervals to pre-
Hence in cholestasis these vent night blindness.
deficiencies are prone to occur. • In addition child should be
Child may present with nyctalopia, administered vitamin D, E and K
rickets and coagulopathy. regularly.
Figure 8.1.40: Bitot’s spots


Acanthosis Nigricans in Non-Alcoholic Fatty Liver Disease (NALFD)
Non-alcoholic fatty liver disease • Reducing weight is the best form

occurs in 3 to 10% of obese children. of therapy.
Spectrum of NAFLD includes • Regular physical exercise has
steatosis to steatohepatitis. been reported as most rewarding.
It is the second most common cause
of liver disease in adults.
Acanthosis nigricans is a marker
of insulin resistance which is an
associated feature in NAFLD.
Figure 8.2.1: Acanthosis nigricans

Achalasia Cardia
Achalasia cardia is the most • Pneumatic dilatation or Heller’s
recognized esophageal motility surgery offer good results.
disorder. Dysphagia both for solids • Oral nifedipine and botulinum
and liquids, aspiration, recurrent toxin injection give variable
vomiting are common symptoms. results.
Esophageal manometry documents
the characteristic finding of failure
of LES to relax and absence of
peristalsis in body of esophagus.
160 Figure 8.2.2: BS showing achalasia cardia

Acrodermatitis Enteropathica
Acrodermatitis enteropathica is Excellent response with lifelong
an AR inherited disorder of zinc treatment with oral zinc.
metabolism.
Defect is in chromosome 8q24.3 due
to Zip 4 metallotransfers.
Presents as acro-oroficial and
A B genital ulcers, alopecia and
Figures 8.2.3A and B: Acrodermatitis
diarrhea.
enteropathica

Congenital Esophageal Stenosis
Congenital esophageal stenosis • CES respond well to endoscopic
(CES) is an important cause of dilatation.
recurrent vomiting in infants. • The lesions at the lower end of
The stenosis can be in the mid esophagus may require surgery.
or lower esophagus. Bronchial
elements may be present in the
wall of the esophagus at the site
of stenosis. Usually presents with
dysphagia,choking,vomiting and
food impaction.
Figure 8.2.4: Endoscopy showing

esophageal stenosis
Congenital Hepatic Fibrosis

Congenital hepatic fibrosis (CHF) • PHT presenting as varices is man-
is classified under fibropolycystic aged medically and endoscopi-
disease of liver and is due to ductal cally.
plate malformations. It is usually • The definite treatment would be
associated with cystic disease of liver and kidney transplant.
kidneys.
CHF is classically an intrahepatic
presinusoidal HT and presents with
enlargement of left lobe of liver,
splenomegaly and GI bleed. Liver
A B
Bx shows bands of fibrosis with
Figures 8.2.5A and B: Congenital hepatic abnormal bile ducts.
fibrosis
Multiple Infantile Hemangioma Liver—CT Angio

Infantile hemangioendothelioma is • Treatment depends upon the
the most common benign tumor of extent of symptoms. Medical
infancy. The majority present before management with diuretics,
6 months of age. steroid and interferon have been
Presents with abdominal distension, reported. Surgery is advised when
mass, anemia, CCF, fever, jaundice, resectable and CCF is a presenta-
thrombocytopenia and loss of tion.
weight. • Arterial embolization and OLT are
US, CT, MR help in diagnosis. other options.
A B
Figures 8.2.6A and B: CT angio showing

multiple hemangioma
Pseudoaneurysm Communicating with Hematoma and Bile Duct

Hematobilia can occur following • Treatment depends upon the
injury or procedures such as liver extent of symptoms. Medical man-
aspiration or biopsy. agement with diuretics, steroid and
Presents with GI bleed, interferon have been reported.
abdominal pain and jaundice. A • Surgery is advised when resectable
pseudoaneurysm communicating and CCF is a presentation.
with a cavity as well as a bile duct is • Arterial embolization and OLT are
seen on Doppler US. other options.
Figure 8.2.7: US doppler showing pseudo-

aneurysm of Hepatic Artery
Umbilical and Ventral Herniae in Child with Chronic Liver Disease (CLD)
Umbilical hernia is frequent in Majority of congenital umbilical
newborns and specially preterms. hernia close and do not
They may reach significant require surgical intervention. If
dimensions with omentum or bowel complications occur and hernia
loop as contents. do not close by the 3rd year surgery
In the presence of tense ascites, is essential. If ascites is present
these hernia cause additional diuretics,therapeutic paracentesis
problems. with albumin replacement is
advised.
Figure 8.2.8: Large umbilical hernia

162 Photo Courtesy: VS Sankaranarayanan
8.3 GI EMERGENCIES
Biliary Ascariasis
Biliary ascariasis is a common • Deworming is advised.
complication of roundworm • Therapeutic endoscopic retro-
infestation. Child presents with grade cholangiopancreatography
features of cholangitis and severe (ERCP) helps in removal of the
abdominal pain. worm from the CBD.
US shows the radiolucent tubular • Sphincterotomy with stent place-
shadow in the CBD. Endoscopy may ment helps in clearing the biliary
reveal the worms in the duodenum. system.

A B
Figures 8.3.1A and B: Biliary ascariasis

Button-Battery Ingestion
Button-battery if swallowed can • Button batteries if present in the
cause complications depending on esophagus should be removed as
the site of impaction and status of soon as possible.
battery. The contents are alkaline • In the stomach these batteries if
and they discharge current and not passed out within 24 hours or
cause burns and perforation do not have a clear double rim on
specially if impacted in the X-ray need to be removed endo-
esophagus. In the stomach batteries scopically.
discharge current into gastric fluid
A B without damaging gastric mucosa.
Figures 8.3.2A and B: Button-battery in
stomach endotherapy
Coagulopathy in Acute Liver Failure

Acute liver failure (ALF) is a dreaded If international normalized ratio
complication of acute liver injury (INR) is more than 1.5 fresh frozen
requiring intensive care. plasma should be given in the
Prolonged prothrombin time is the presence of overt bleed.
hallmark sign of ALF. If there is no improvement
Child may present with GI bleeds or with fresh frozen plasma (FFP)
bleed from other sites including IV recombinant activated factor VII
access sites. may be required.
Figure 8.3.3: Skin bleeds sign of

coagulopathy in ALF
163
Food Impaction in Esophagus

Impaction of food in esophagus • Endoscopic removal of food bolus
can occur in young children and offers immediate relief.
requires immediate removal. Child • Underlying stenosis if present is
presents with acute dysphagia, dilated at the same sitting to avoid
vomiting and drooling of saliva. recurrence of impaction.
Congenital stenosis, stricture and
eosinophilic esophagitis may
present with food impaction.
A B Emergency endoscopy is both
Figures 8.3.4A and B: Impaction of ‘bengal therapeutic and diagnostic.
gram’ in esophageal stenosis
Intussusception
Intussusception is a common GI • Infants less than 1 year of age

emergency in young children. usually do not have a lead point
Presents with severe abdominal and do well with pneumatic
colic, incessant cry and bleeding PR reduction.
(currant jelly). • Surgery is reserved for those with
Palpation of a mass with donut recurrence and those with un-
or target sign on US confirms the derlying lesions such as tumors,
diagnosis. Meckel’s or polyps.
Figure 8.3.5: US showing “donut sign”

Scalp Hematoma in Neonatal Cholestasis Syndrome

Infants with neonatal cholestasis Prevention of these catastrophic
syndrome may present to the incidents is by administering
emergency room with incessant injection vitamin K3 doses as soon
cry and seizures. Coagulopathy as a diagnosis of cholestasis is
secondary to vitamin K deficiency made.
may be missed. Scalp hematoma
and intracranial hemorrhage may
occur in these infants requiring
prompt management.
Figure 8.3.6: Hematoma scalp

164 Photo Courtesy: A Riyaz
Variceal Bleeding
Major gastrointestinal bleed is an • Endotherapy is the accepted
important GI emergency. management of variceal bleed.
In children majority of major upper • Variceal banding is feasible in
gastrointestional (UGI) bleeds are children less than 2 years of age.
variceal. • Endoscopic sclerotherapy is pre-
Bleed is unprovoked with bright red ferred for young infants.
blood and large clots.
A B
UGI endoscopy aids diagnosis and
Figures 8.3.7A and B: Grade III varices therapy.
banding

8.4 SYNDROMES
Alagille Syndrome
Alagille syndrome is an autosomal Supportive management of
dominant disorder of cholestasis cholestasis specially the disturbing
with defect in chromosome 20p pruritus. Liver transplant is
JAG 1 gene. The main feature being beneficial if cardiac and renal
paucity of interlobular bile ducts. abnormalities are minor.
The characteristic triangular facies,
pulmonary branch stenosis,butterfly
vertebra, posterior embryotoxon
with ductopenia on HPE is
A B diagnostic.
Figures 8.4.1A and B: Alagille Syndrome
Age 6 months and 9 years
Hennekam’s Syndrome
Hennekam’s syndrome is a rare Treatment is only supportive
AR disorder due to mutation in diet should be MCT-based.
CCBE1 gene (collagen and calcium Regular albumin transfusions
binding EGF domain containing may be necessary to treat the
protein1). It comprises of intestinal hypoalbuminemia.
lymphangiectasia, facial anomalies,
peripheral lymphedema and mental
retardation.
A B
Figures 8.4.2A and B: Facial asymmetry with

intestinal lymphangiectasia
Peutz-Jeghers Syndrome
Peutz-Jeghers (PJ) syndrome is an • Polypectomy of lesions within the
autosomal dominant polyposis reach of the scope.
syndrome. Mucocutaneous • Operative enteroscopy and
pigmentation and hamartomatous polypectomy of small bowel pol-
polyps are seen through out GIT. yps is also an option.
Bleeding PR with intussusception
is a common presentation. High
incidence of GI and non GI
A B
malignancies.
Figures 8.4.3A and B: Trilobed polyp and
mucosal pigmentation
Verner-Morrison Syndrome
Verner-Morrison syndrome or Surgical removal of the tumor is
VIPoma or Watery diarrhea, rewarding.

hypokalemia, achlorhydria
syndrome is a rare cause of
watery diarrhea in children
due to increased secretion of
vasoactive intestinal peptide.
A B VIP is secreted by tumors of the
Figures 8.4.4A and B: Lobulated mass with pancreas or in children from
calcification near tail of pancreas. Tumor VIP + ganglioneuroblastoma.
Wolman’s Syndrome
Wolman’s syndrome is a rare fatal • There is no specific therapy for
AR disorder due to deficiency of the disease.
acid lipase and characterized by • Umbilical cord stem cell therapy
accumulation of cholesterol esters has been advocated to replace
and triglycerides in the histiocytic acid lipase levels. If done early
foam cells of most visceral organs. may be curative.
A B
Presents as hepatosplenomegaly,
diarrhea and anemia. Bilateral
Figures 8.4.5A and B: Adrenal calcification,
liver bx with vacuoles adrenal calcification seen on plain
Photo Courtesy: Malathi Sathiyasekaran X-ray is the hall-mark finding.
166
Section 9
Nephrology
Section Editor
Pankaj Deshpande
Photo Courtesy
Fagun Shah, Pankaj Deshpande

9.3 Syndromes
Section Outline
9.1 COMMON CONDITIONS 169 ♦ Posterior Urethral Valves 173
♦ Abdominal Striae Secondary to Steroid Therapy 169 ♦ Renal Tubular Acidosis—Severe Deformities of the Lower
♦ Adverse Effects of Steroids on Height 169 Limbs 173
♦ Bilateral Dilatation of the Pelvicalyceal System 169
♦ Delayed Presentation of Renal Tubular Acidosis 170
♦ Bladder Diverticulum 174
♦ DMSA Scan done at Two Months after Urinary Tract
♦ Chronic Kidney Disease with Genu Valgum Deformity due
Infection (UTI) 170
to Renal Osteodystrophy 174
♦ DMSA Scan done Six Months after a UTI 170
♦ Enlarged Kidney—Unusual Presentation of Disease 174
♦ DMSA Scan Showing Dysplastic Left Kidney with Poor
♦ Multicystic Dysplastic Kidney 175
Function 171
♦ Multicystic Dysplastic Kidney—Involuting 175
♦ Hyperpigmentation of Skin on Fingers due to
♦ Nephrocalcinosis 176
Cyclophosphamide 171
♦ Ostial Stenosis of Left Renal Artery on CT
♦ Idiopathic Nephrotic Syndrome on Long-term Steroid
Angiography 176
Therapy 171
♦ Severe Bowing of Legs 176
♦ Idiopathic Nephrotic Syndrome with Cushingoid
♦ Severe Rickets due to Vitamin D Dependency 177
Features 172
♦ Short Stature in Patient with Chronic Kidney Disease 177
♦ MCUG Showing Bilateral Grade 4 Vesicoureteric
♦ Stenosed Renal Artery on CT Angiography 178
Reflux 172
♦ MCUG Showing Posterior Urethral Valves and 9.3 SYNDROMES 178
Trabeculated Bladder with Right Grade 5 Reflux 172 ♦ Bartter’s Syndrome 178
♦ Nephrotic Syndrome on Cyclosporine Looking ♦ Bartter’s Syndrome—Response to Therapy 179
Normal 173 ♦ Prune-Belly Syndrome 179
Abdominal Striae Secondary to Steroid Therapy

This twelve years old boy had steroid Once they occur, there is very little
sensitive nephrotic syndrome for that can be done to make them
more than 7 years. He had received disappear. Hence, the aim should
multiple courses of steroids; the be to prevent their occurrence.
abdominal striae that are an adverse Use of steroids sparingly and use
effect of steroids are well seen here. of other agents to prevent steroid
They can be painful to begin with adverse effects is very important.
and eventually leave marks that Vitamin E has been used to improve
do not disappear. Occur due to the appearance of the striae.
stretching of skin.
Figure 9.1.1: Abdominal striae secondary to
steroid therapy
Photo Courtesy: Pankaj Deshpande, Mumbai
Adverse Effects of Steroids on Height
The boy has nephrotic syndrome Monitor the height regularly on
and had multiple courses of steroids. The height velocity would
steroids. The boy is 7 years old and be more appropriate. Any effect on
the girl is his sister who was 5 years the height of children in nephrotic
old when this photo was taken. As syndrome should prompt use of
can be seen the boy is much shorter further agents. This boy’s height at
than her younger sister though prior this stage was well below the third
to the onset of nephrotic syndrome, centile though his height had been
his height was on the 10th centile. on the 10th centile prior to several
years of nephrotic syndrome and
Figure 9.1.2: Adverse effects of steroids on
steroids.
height
Bilateral Dilatation of the Pelvicalyceal System

Renal ultrasound showing Severe dilatation of the
severe bilateral dilatation of the pelvicalyceal system should arouse
pelvicalyceal system in a 6 months the suspicion of pelvi-ureteric
old baby. Note the “Mickey-Mouse junction obstruction. A radioisotope
appearance”. scan—MAG3/EC/DTPA will be
able to determine the drainage
pattern. If the renal function in both
kidneys is preserved, conservative
management usually is required.
Figure 9.1.3: Bilateral dilatation of the
If the renal function in the affected
pelvicalyceal system kidney is reduced, surgical
Photo Courtesy: Pankaj Deshpande, Mumbai intervention is required to preserve
function. 169
Delayed Presentation of Renal Tubular Acidosis

Twelve years old untreated patient Detection has to be done early.
of renal tubular acidosis. Note the Suspect renal tubular acidosis in
severe stunting of height. Other patients with failure to thrive. Blood
pictures show the deformities. gas and serum electrolytes with
normal renal function will provide
a diagnosis.
Figure 9.1.4: Delayed presentation of renal

tubular acidosis
DMSA Scan done at Two Months after Urinary Tract Infection (UTI)
DMSA scan done 2 months after A DMSA scan is done in UTIs to
a UTI. Note the reduced uptake in look for chronic damage. Acute
the upper and lower poles of the changes on DMSA can last for
left kidney. This was reported as several months. Hence, a DMSA
scarring. scan should not be done for at least
four months after a UTI. In fact, the
later, the better. Ideally, it would
be better to do the scan after six
months!
Figure 9.1.5: DMSA scan done at two months

after UTI
DMSA Scan done Six Months after a UTI

The DMSA scan of the same boy as A DMSA scan is done in UTIs to
in Figure 9.1.5, repeated after six look for chronic damage. Acute
months. Completely normal with no changes on DMSA can last for
‘scarring’! several months. Hence, a DMSA
scan should not be done for at least
four months after a UTI. In fact, the
later, the better. Ideally, it would
be better to do the scan after six
months!
Figure 9.1.6: DMSA scan done six months after
a UTI
170 Photo Courtesy: Pankaj Deshpande, Mumbai
DMSA Scan Showing Dysplastic Left Kidney with Poor Function

DMSA scan showing the presence DMSA scan is used in UTIs to
of a dysplastic left kidney with poor detect chronic damage but the
function. This baby had presented distinction between scarring and
with mild fever 4 months prior dysplasia has to be made on history
to the scan and was diagnosed to and clinical features. Normal
have a UTI that was treated. The sized kidneys on ultrasound does
interesting feature to note is that not rule out dysplasia. The loss of
despite left kidney being dysplastic, corticomedullary differentiation is
the ultrasound scan showed both a subtle marker of dysplasia. Long-
Figure 9.1.7: DMSA scan showing dysplastic kidneys to be of equal size. term monitoring of renal function
left kidney with poor function
and proteinuria is mandatory in
such cases. Remember they are
completely asymptomatic!
Hyperpigmentation of Skin on Fingers due to Cyclophosphamide
This girl had nephrotic syndrome Masterly inactivity! No
and was frequently relapsing. medications are required! The
Hence, she was given a course of hyperpigmentation disappears
cyclophosphamide. On the therapy completely after the therapy of
with oral cyclophosphamide, 12 weeks is completed!
patients can develop
hyperpigmentation of the toes and
fingers (darkening of skin). This
can be seen in the pictures of her
fingers and toes. This is a common
complaint of the parents that the
Figure 9.1.8: Hyperpigmentation of skin on distal toes and fingers look darker!
fingers due to cyclophosphamide
Idiopathic Nephrotic Syndrome on Long-term Steroid Therapy

This one and half years old girl Even if edema resolves, ensure
had nephrotic syndrome. She had that the nephrotic syndrome
received more than 3 months of has resolved by checking a urine
daily steroids and was not clearly in protein/creatinine ratio in a spot
remission, hence it is case of steroid urine sample. If the ratio is high
resistant nephrotic syndrome. The (normally less than 0.5), it may
Cushingoid features with swollen be steroid resistant nephrotic
cheeks can be well seen as also the syndrome. These children need
puffiness of the eyelids, indicating a kidney biopsy and further
edema and nonresolution of the medications like cyclosporine. This
nephrotic syndrome. girl had minimal change disease on
Figure 9.1.9: Idiopathic nephrotic syndrome biopsy and has done very well on
on long-term steroid therapy
cyclosporine. 171
Idiopathic Nephrotic Syndrome with Cushingoid Features

This three and half years old boy had Though the first episode of
nephrotic syndrome but relapsed nephrotic syndrome may be
frequently. Hence, he had multiple sensitive to steroids, frequent
courses of steroids. The cushingoid relapsers (more than 2 relapses
features are well appreciated here. in 6 months) will need other
The “moon-facies” that come medications to avoid steroid
with long courses of large doses of toxicity. Moon facies, obesity,
steroids are remarkable. Needless to risk of infections, osteoporosis,
say, obesity also makes its presence hypertension, abnormal glucose
felt. tolerance, stunting of height,
Figure 9.1.10: Idiopathic nephrotic syndrome cataracts are the few adverse effects
with Cushingoid features to watch out for with steroids!
MCUG Showing Bilateral Grade 4 Vesicoureteric Reflux

This one year old baby presented Children with recurrent episodes of
with recurrent episodes of UTI, especially below 1 year of age
urinary tract infections and need special care and investigations.
bilateral hydroureteronephrosis Apart from ultrasound, MCUG is
on ultrasound examination. required to diagnose and grade
Micturating cystourethrogram vesicoureteric reflux. Medical
done during infection free period and surgical therapy has shown
revealed presence of bilateral grade similar outcomes in children
4 vesicoureteric reflux. diagnosed with vesicoureteric
reflux. Attention to local factors to
prevent UTI is important along with
chemoprophylaxis.
Figure 9.1.11: MCUG showing bilateral grade 4
vesicoureteric reflux
Photo Courtesy: Fagun Shah, Surat
MCUG Showing Posterior Urethral Valves and Trabeculated Bladder with Right Grade 5 Reflux
This three months old male child Posterior urethral valves have to
presented with recurrent episodes be diagnosed early in the newborn
of UTI and poor urinary stream period. Antenatal ultrasound scans
with visibly palpable swelling in usually show pelvic dilatation and/
suprapubic region. Micturating or large bladder. Posterior urethral
cystourethrogram shows dilated valves are diagnosed by MCUG
posterior urethra at bladder neck and need fulguration. Long-term
along with trabeculated bladder and follow-up for renal function and
right Grade 5 reflux. proteinuria is mandatory and
crucial.
Figure 9.1.12: MCUG showing posterior
urethral valve and trabeculated bladder with
right grade 5 reflux
172 Photo Courtesy: Fagun Shah, Surat
Nephrotic Syndrome on Cyclosporine Looking Normal

This six years old girl had frequently When used appropriately in the
relapsing Nephrotic syndrome. right doses, medications like
This picture shows how well she is Cyclosporine do a great job of
on cyclosporine. Often, hirsutism preventing relapses in nephrotic
is considered as one of the major syndrome without causing the
problems on cyclosporine for girls. known side effects of hirsutism or
As cyclosporine dose is adjusted gingival hyperplasia. This girl is now
properly, there is no evidence of off all medications and is doing very
hirsutism in this picture! Needless to well.
say, she has no cushingoid features
or steroid side effects.
Figure 9.1.13: Nephrotic syndrome on
cyclosporine looking normal
Posterior Urethral Valves

Voiding cystourethrogram showing This four years old boy presented
the presence of dilated posterior with occasional episodes of
urethra indicating the presence of passing urine after a very long
minor posterior urethral valves. duration, sometimes even 12 hours.
Otherwise, he used to void regularly
and had a fairly good stream. When
he had a long interval between
voiding episodes, he would have
to strain to void. Minor posterior
urethral valves usually do not
affect renal function but have to be
Figure 9.1.14: Posterior urethral valves surgically/endoscopically removed/
fulgurated.
Renal Tubular Acidosis—Severe Deformities of the Lower Limbs

Severe deformities of the lower Normal anion gap—Metabolic
limbs as in the similar type of case acidosis with hypokalemia and
as mentioned in Figure 9.1.4. As hyperchloremia are the basis of
florid rickets has not being treated, diagnosis of renal tubular acidosis
there is malleolar widening, severe (RTA). Rickets in RTA is usually
weakness with the girl being unable due to acidosis inactivating the
to sit and severe osteomalacia on vitamin D or uncommonly due
X-ray along with rickets. This picture to phosphate loss as in Fanconi’s
was taken earlier than the other one syndrome. To prevent deformity,
and improvement in her clinical early detection is must.
status can be seen on treatment
as she was able to stand and walk
Figure 9.1.15: Renal tubular acidosis—Severe independently.
deformities of the lower limbs
Photo Courtesy: Pankaj Deshpande, Mumbai 173
Bladder Diverticulum
This shows a voiding If the child is having recurrent urine
cystourethrogram with the dye in infections or if the diverticulum
the bladder showing an outline of is large, surgical removal of the
the diverticulum as shown. diverticulum is essential. Small
diverticulum in early infancy may
improve by itself and conservative
management can be tried.
Figure 9.2.1: Bladder diverticulum

Chronic Kidney Disease with Genu Valgum Deformity due to Renal Osteodystrophy
Severe deformity of the lower While the condition in previous

limbs similar to that depicted in child was due to renal tubular
Figure 9.1.4. acidosis, this child on investigations
had high anion gap metabolic
acidosis with severely deranged
renal functions. The cause for
bony deformity here was renal
osteodystrophy secondary
to chronic kidney disease.
Non-functioning kidneys disturb
bone metabolism due to multiple
factors. This illustration clarifies
different etiologies with same
clinical presentation.
Figure 9.2.2: Chronic kidney disease
with genu valgum deformity due to renal
osteodystrophy
Enlarged Kidney—Unusual Presentation of Disease

Enlarged kidney on abdominal This baby had acute lymphoblastic
ultrasound scan. leukemia (ALL)! The enlarged
Unusual presentation of disease. kidneys were secondary to renal
This infant presented with fever and spread of ALL. Important to keep
blood tests showed a low Hb of 8, unusual presentations in mind!
total WCC of 5200 and low platelets
of 80,000/cmm. The ultrasound scan
was done for abdominal distension.
Figure 9.2.3: Enlarged kidney—unusual

174 presentation of disease
Multicystic Dysplastic Kidney

Renal ultrasound showing many Unilateral multicystic dysplastic
cystic structures of fairly large size. kidneys usually need no
This is a case of Left multicystic intervention. Most will involute by
dysplastic kidney in a 6 months old eight years of age and hence surgery
child. is not required. Monitoring of renal
function and blood pressure is all
that is required. Usually the other
kidney is normal and hence long-
term prognosis is good. Very rarely,
if the MCDK does not involute but
increases in size or is associated
with hypertension may intervention
be required.
Figure 9.2.4: Multicystic dysplastic kidney

Multicystic Dysplastic Kidney—Involuting
This US scan was done 3 years after Unilateral multicystic dysplastic
the earlier one (above). Note the kidneys usually need no
small size and disappearing cysts. intervention. Most will involute by
eight years of age and hence surgery
is not required. Monitoring of renal
that is required. Usually the other
increases in size or is associated
with hypertension may intervention
be required.
Figure 9.2.5: Multicystic dysplastic kidney—

involuting
This clearly shows the extremely Unilateral multicystic dysplastic
small size of the involuting kidneys usually need no
multicystic dysplastic kidney intervention. Most will involute by
(MCDK) described above. The size eight years of age and hence surgery
is less than 1 cm! is not required. Monitoring of renal
that is required. Usually, the other
Figure 9.2.6: Multicystic dysplastic kidney—
involuting increases in size or is associated
Photo Courtesy: Pankaj Deshpande, Mumbai with hypertension may intervention
be required. 175
Nephrocalcinosis
This ultrasound scan shows severe Brightness of the kidney or
nephrocalcinosis as can be seen increased echogenicity can be due
by the bright triangular structures. to many reasons. Nephrocalcinosis
This baby has distal renal tubular is an important cause. Investigation
acidosis. into the cause of nephrocalcinosis
should include tests for tubular
disorders, hypercalciuria, history
of diuretics, etc. Metabolic acidosis
with hyperchloremia, normal anion
gap and hypokalemia indicate renal
Figure 9.2.7: Nephrocalcinosis tubular acidosis and hypercalciuria
Photo Courtesy: Pankaj Deshpande, Trivandrum is commonly seen in distal RTA.
Ostial Stenosis of Left Renal Artery on CT Angiography

CT angiography in a boy with Usually children with posterior

posterior urethral valves showing urethral valves have an increased
a small left kidney and ostial urine output and are not
narrowing at the origin of the left hypertensive till the renal function
renal artery. This boy had persistent deteriorates significantly. This boy
hypertension. had normal renal function and
persistent hypertension. Persistent
hypertension in posterior urethral
valves is not normal and should
Figure 9.2.8: Ostial stenosis of left renal artery
warrant investigations including a
on CT angiography CT angiography.
Severe Bowing of Legs

Severe bowing of the legs. Note the Bowing beyond 3 years of age
increased intercondylar distance is not physiological and hence
when the malleoli are placed investigations need to be done. The
together. The boy is sixty-five hallmark of hypophosphatemic
months old. Bowing at this age is rickets is lethargy, weakness (lack
abnormal. He also had signs of of phosphate), normal calcium,
rickets and investigations revealed very low phosphorus, high alkaline
hypophosphatemic rickets. phosphotase and normal or mild
elevation of PTH. Therapy with
Joulie’s solution, 1, 25 calcitriol and
monitoring for nephrocalcinosis
forms the mainstay of treatment.
Figure 9.2.9: Severe bowing of legs This condition can be X-linked
Photo Courtesy: Pankaj Deshpande, Mumbai dominant or autosomal dominant
in inheritance.
176
Severe Rickets due to Vitamin D Dependency

Classical case of severe vitamin D This girl due to classic clinical
dependent rickets. Note the bowing features and laboratory
of forearms with wrist widening investigations suggestive of
and similar changes in lower limbs. rickets was given multiple doses
The presence of pot belly due to of 25-hydroxy vitamin D without
muscular hypotonia as well as any result. Further referral and
Harrison’s sulcus is quite obvious. investigations were suggestive of
Vitamin D. Dependent Rickets
Type 1. The child was treated with
daily doses of 1,25-dihydroxy
vitamin D. Nonresponsiveness to
conventional treatment for rickets
A
should prompt to investigate for
other causes of rickets like RTA,
vitamin D dependent rickets,
hypophosphatemic rickets, etc.
B
Figures 9.2.10A and B: Severe Rickets due to

vitamin D dependency
Short Stature in Patient with Chronic Kidney Disease

Severe growth retardation in a child Growth retardation is an important
with chronic kidney disease. The consequence of chronic renal
girl is 8 years old studying in 2nd disease. It has a multifactorial
standard and height is just 80 cm. basis—end organ resistance to
growth hormone, acidosis, anemia,
nutritional deficiency, etc. It is
imperative to screen for renal
functions in all patients with short
stature. Treatment is multifactorial
and requires multifaceted approach
with correction of all contributing
factors.
Figure 9.2.11: Short stature in patient with

chronic kidney disease
177
Stenosed Renal Artery on CT Angiography

CT angiography showing two See below in Figure 9.2.13.
renal arteries on both sides with a
stenosed segment of the right lower
artery.
Figure 9.2.12: Stenosed renal artery on CT

angiography
CT angiography showing two Hypertension in children needs

renal arteries on both sides with a to be investigated thoroughly
stenosed segment of the right lower as renovascular hypertension

artery. is one of the common causes of
This was an unusual case. This hypertension in children. High
is a CT angiography done for an renin and aldosterone levels,
eleven years old boy with persistent captopril renography showing
hypertension after the pelvi-ureteric reduced renal function are some of
junction obstruction in the left the tests that can be used. Doppler
kidney was treated with pyeloplasty. may not always diagnose renal
It shows two renal arteries on both artery stenosis. CT angiography
sides. The lower one on the right provides good resolution pictures.
Figure 9.2.13: Stenosed renal artery on CT shows a 7 mm segment that is Angioplasty was done in this
angiography boy and he remains well with no
Photo Courtesy: Pankaj Deshpande, Mumbai completely occluded and hence
causing the hypertension! medications being required.
9.3 SYNDROMES
Bartter’s Syndrome
Renal ultrasound shows severe While the common causes of
dilatation of renal pelvis. dilatation in the pelvicalyceal
system are pelvi-ureteric junction
obstruction or vesicoureteric
reflux, this baby has an unusual but
commonly forgotten condition.
The dilatation was secondary
to polyuria as seen in tubular
disorders. This baby had Bartter’s
syndrome and the following picture
will show how the dilatation
improves on treatment of the
condition.
178 Figure 9.3.1: Bartter’s syndrome
Bartter’s Syndrome—Response to Therapy

The dilatation seen previously Presence of polyuria, failure to
is significantly reduced as the thrive should lead to suspicion of
polyuria is controlled. Also, note the Bartter’s syndrome. Biochemically,
increased echogenicity in the kidney there will be alkalosis, hypokalemia,
that indicates nephrocalcinosis, a low chloride and concomitant high
hallmark of Bartter’s syndrome. urinary chloride and hypercalciuria.
Treatment with Indomethacin and
potassium supplements helps in
controlling the symptoms and aids
appropriate growth.
Figure 9.3.2: Bartter’s syndrome—response
to therapy
Prune-Belly Syndrome
The lax musculature of the abdomen Children with prune belly will
and the undescended testes. The have bilateral dilatation of the
syndrome is characterized by pelvicalyceal system with or
hydronephrosis with large bladder, without vesicoureteric reflux. Renal
abdominal wall muscle deficiency, dysplasia is also common and must
renal dysplasia and characteristic be looked for in such patients.
wrinkled abdominal skin.
Figure 9.3.3: Prune-Belly syndrome

179
Section 10
Hematology
Section Editors
MR Lokeshwar, Bharat Agarwal
Photo Courtesy
Anupam Sachdeva, Bharat Agarwal, Mamta Manglani,
MR Lokeshwar, Nitin Chavan, Nitin Shah, Raj Warrier

10.3 Hematological Emergencies
10.4 Syndromes
Section Outline
10.1 COMMON CONDITIONS 183 ♦ Anemia-Nutritional—Iron Deficiency Anemia 194
♦ Anemia-Child with Pallor 183 ♦ Anemia-Nutritional—Megaloblastic Anemia 195
♦ Anemia-Hemolytic: Dactylitis in Sickle Cell Anemia 183 ♦ Anemia-Nutritional—Peripheral Smear in IDA 195
♦ Anemia-Hemolytic: Infant with Thalassemia Major 184 ♦ Anemia-Nutritional—Reticulocyte Count 196
♦ Anemia-Hemolytic: Thalassemic Child 184 ♦ Anemia-Nutritional—Bone Marrow Examination 196
♦ Anemia-Hemolytic: Thalassemia Intermedia 185 ♦ Bleeding Disorder—Fixed Drug Reaction 196
♦ Anemia-Hemolytic: Thalassemia Major 185 ♦ Bleeding Disorder—Idiopathic Thrombocytopenic Pur-
♦ Anemia-Hemolytic: Thalassemic Child—Malar Promi- pura 197
nence 186 ♦ Bleeding Disorder—Hemophilia 197
♦ Anemia-Hemolytic: Thalassemia Child—Hot Cross Bun ♦ Bleeding Disorder—Vitamin K Deficiency 198
Appearance 186 ♦ Leukemia—Acute Lymphoblastic Leukemia 198
♦ Anemia-Hemolytic: Thalassemia with Growth Retarda-
tion 186 10.2 UNCOMMON CONDITIONS BUT NOT RARE 199
♦ Anemia-Hemolytic: Thalassemia—Peripheral Blood ♦ Anemia in Newborn—Fetomaternal Transfusion 199
Smear 187 ♦ Autoimmune Hemolytic Anemia on Steroid
♦ Anemia-Hemolytic: Thalessemia—Nestrof Test for Thal- Therapy 199
assemia Minor 187 ♦ Gaucher’s Disease 200
♦ Anemia-Hemolytic: Thalassemia—Hb Electrophoresis by ♦ Hereditary Elliptocytosis 200
Paper and Cellulose Acetate 187 ♦ Hereditary Spherocytosis 201
♦ Anemia-Hemolytic: Thalassemia—Hb Variant Analysis by ♦ Hereditary Spherocytosis in a Family—Icterus in Both
HPLC 188 Mother and Child 201
♦ Anemia-Hemolytic: Thalassemia—Radiological Changes ♦ Hypothyroidism with Anemia 202
in Thalassemia Major 188 ♦ Lead Poisoning Presenting as Anemia 202
♦ Anemia-Hemolytic: Thalassemia—Dexa Scan 189 ♦ Persistent Anemia in Celiac Disease 203
♦ Anemia-Hemolytic: Thalassemia—Cold Centrifuge 189 ♦ Protein C Deficiency (Homozygous) 203
♦ Anemia-Hemolytic: Thalassemia—Laminar Flow 190 ♦ Purpura Fulminans 203
♦ Anemia-Hemolytic: Thalassemia—Leukocyte Filter 190
♦ Anemia-Hemolytic: Thalassemia—Day Care Transfusion 10.3 HEMATOLOGICAL EMERGENCIES 204
Center 190 ♦ Disseminated Intravascular Coagulation 204
♦ Anemia-Hemolytic: Thalassemia—Desferal Subcutane- ♦ G6PD Deficiency 204
ous Pump 191 ♦ Hemolytic Uremic Syndrome 205
♦ Anemia-Hemolytic: Thalassemia—Oral Chelation
Therapy 191 10.4 SYNDROMES 205
♦ Anemia-Hemolytic: Thalassemia—Splenectomy in Thal- ♦ Battered Baby Syndrome 205
assemic Child 192 ♦ Diamond Blackfan Syndrome 205
♦ Anemia-Hemolytic: Thalassemia—Stem Cell Transplanta- ♦ Dyskeratosis Congenita 206
tion in Thalassemia 192 ♦ Fanconi’s Anemia 206
♦ Anemia-Kala-Azar 193 ♦ Glanzmann’s Thrombasthenia 207
♦ Anemia-Malaria 193 ♦ Henoch’s Schönlein Purpura 207
♦ Anemia-Bone Marrow Failure Syndrome—Aplastic ♦ Kasabach-Merritt Syndrome 207
Anemia 194 ♦ Wiscott-Aldrich Syndrome 208
Anemia-Child with Pallor
Pallor is important common • All anemic patients are not neces-
symptom of anemia. sarily pale and all pale looking
Most common cause of anemia children may not necessarily
is due to nutritional deficiencies be anemic. Pallor depends on
like iron deficiency, B12, folic hemoglobin content, state of skin
acid deficiencies, deficiency capillaries, skin pigmentation and
of micronutrients particularly thickness.
when not associated with • Children with hypothyroidism,
generalized lymphadenitis or nephrotic syndrome, CCF look
hepatosplenomegaly, petechiae, pale without being anemic. Jaun-
purpura. dice, cyanosis may interfere with
When child does not respond to appreciation of pallor and inter-
deficient nutrients, other causes fere with evaluation of anemia.
should be considered. Treat underlying cause. Symp-
Figure 10.1.1: Anemia-child with pallor
toms of anemia not only depend
Photo Courtesy: MR Lokeshwar, on hemoglobin concentration but
also on rate of fall of hemoglobin.

Mamta Manglani, Mumbai
Anemia-Hemolytic: Dactylitis in Sickle Cell Anemia

Hand foot syndrome (dactylitis) Hand foot syndrome (dactylitis)
presents with: presents with:
• Swelling over the hand-?cellulitis. • Pain control and hydration.
• X-ray hand shows osteomyelitis. • If associated with infection proper
A
• CBC shows: Anemia, High WBC antibiotics.
count. • Blood transfusion may be helpful
• Peripheral smear shows sickle cell if HbS is high.
on peripheral smear confirms the • No surgery is required.
diagnosis of sickle cell anemia. • Hydroxyurea is useful for preven-
• Sickling test positive. tion.
B • HPLC (High-performance liquid
Figures 10.1.2A and B: Dactylitis in sickle chromatography) confirms the
cell anemia diagnosis.
Photo Courtesy: MR Lokeshwar, Nitin Shah
183
Anemia-Hemolytic: Infant with Thalassemia Major

Pale child from Mahar community. After repeated blood transfusions
No history of consanguinity. there may not be high level of HbF
Received blood transfusion twice in in the affected child. Parental study
the past. On examination, marked and chain synthesis, gene study
pallor, prominent forehead, mild useful for confirming the diagnosis
hepatosplenomegaly. Peripheral of thalassemia major. Thalassemia is
smear examination showed common in following communities:
increased normoblasts, HbF 10%, • Sindhis and Punjabis, Khatris,
HbA2 3.2%, Sr. Ferritin 120 ng/dl. Kukrejas
Figure 10.1.3: Infant with thalassemia major Diagnosis- ?? Thalassemia, but HbF
Photo Courtesy: MR Lokeshwar, • Bhanushalis, Kutchis, Lohanas
not much increased. Parenteral
study—mother and father both • Mahars, Chamars, Buddhas and
thalassemia minor with HbA2 Navabudhas
increased 4.2 and 5.1% respectively. • Kolies, Agris and Kunbies
• Reddies, Gowdas and Lingayats,
Kurgs and Gaud Saraswats.
Anemia-Hemolytic: Thalassemic Child

Frontal bossing and parietal • Treated by hypertransfusion.
bossing are indicators of most Pretransfusion Hb should not be
poor management of a child with less than 10 to 11gm%.
thalassemia major. • Posttransfusion Hb should not be
It is mainly due to marked increase less than 12 gm%.
in medullary erythropoiesis in the
flat bones of the skull.
A B
Figures 10.1.4A and B: Anemia-hemolytic:

Thalassemic child
Photo Courtesy: MR Lokeshwar,
184
Anemia-Hemolytic: Thalassemia Intermedia

HbF elevated, homozygous states • Moderate anemia.
or double heterozygous may be • Not dependent on blood transfu-
present. Associated with pallor and sion for their survival.
hepatosplenomegaly. Hemolytic face
• Transfusion requirement vary
with frontal bossing, parietal bossing,
depending upon the severity of
malar prominence, malocclusion of
their phenotype. As the child
teeth. This syndrome has extreme
grows may need regular blood
variability, ranging from as severe as
transfusion.
thalassemia major to those as mild
β-thalassemia trait with minimum • Administration of folic acid.
or no symptoms. Presentation can
be as early as 2 years to adolescent or
adult life. Growth and development
may be normal with normal puberty
and fertility depending upon the
severity. They may be associated
with progressive osteoporosis with
pathological fractures, leg ulcers,
Figure 10.1.5: Thalassemia intermedia

Photo Courtesy: MR Lokeshwar, anemia and hypersplenism.
Anemia-Hemolytic: Thalassemia Major

HbF-markedly elevated, Thalassemia belt stretches across
homozygous state. Both parents African continent, Mediterranean
heterozygous (thalassemia regions, Middle East, Indian
minors). Inadequate treatment subcontinent, Southeast Asia,
leads to growth retardation, pallor, Thailand, Cambodia, Laos,
hepatosplenomegaly and organ Vietnam, Malaysia, Singapore,
dysfunction. Dependent on blood Southern China, and Melanesia.
transfusion for their survival. Approximately about 100,000 -
Requires regular transfusion every children with Thalassemia major
3 to 6 weeks. Chelation therapy to are born all over the world. In India
prevent iron overload. Treatment of with the birth rate of 22.8 per 1000,
Figure 10.1.6: Thalassemia major organ dysfunction. it is estimated that, 8 to 10,000
Photo Courtesy: MR Lokeshwar, children born with thalassemia
Mamta Manglani, Mumbai major and added every year.
185
Anemia-Hemolytic: Thalassemic Child—Malar Prominence

Malar prominence in case of • Hypertransfusion suppresses
thalassemia major indicate bone marrow expansion.
improper transfusion therapy. • Hence regular saline washed
It is due to expansion of bone packed red blood transfusion pre-
marrow space mainly in flat vents hemolytic face. Child lives
bones and is due to increased on borrowed blood and does not
intramedullary erythropoiesis. produce his/her own blood.
Figure 10.1.7: Thalassemic child—Malar

prominence
Nitin Shah, Mumbai
Anemia-Hemolytic: Thalassemia Child—Hot Cross Bun Appearance

Hot cross bun appearance Treated by hypertransfusion.

of the skull indicates most Pretransfusion Hb should not be
poor management of a child less than 10 to 11gm% and post-
with thalassemia major. transfusion Hb should not be less
It is mainly due to marked than 12 gm%. This will not permit
increase in erythropoieses in production of defective cells in the
the flat bones of the skull. marrow and hence expansion of
marrow does not take place.
Figure 10.1.8: Hot cross bun appearance

Anemia-Hemolytic: Thalassemia with Growth Retardation

Comparison of thalassemia children Proper transfusion therapy,
receiving: chelating therapy and adequate
• Proper adequate therapy. management of complications
allows the child to have near normal
• Improper, irregular therapy.
growth and development.
• Normal nonthalassemic healthy
child.
All are of same age.
Figure 10.1.9: Thalassemia with growth

retardation
186 Photo Courtesy: MR Lokeshwar,
Anemia-Hemolytic: Thalassemia—Peripheral Blood Smear

Peripheral blood smear in Diagnosis of thalassemia major can
thalassemia is diagnostic with be suspected on peripheral smear
characteristic bizarre picture of examination.
red cells, which are microcytic,
macrocytic, hypochromic,
associated with poikilocytosis,
polychromasia moderate basophilic
stippling and fragmented
erythrocytes, target cells, Cabot’s
ring and large number of
Figure 10.1.10: Peripheral blood smear of normoblasts.
thalassemia major
Nitin Chavan, Mumbai
Anemia-Hemolytic: Thalessemia—Nestrof Test for Thalassemia Minor

Nestrof test is naked eye single tube Good screening test. Nestrof

red cell osmotic fragility. negative rules out thalassemia
A positive nestroft test is seen minor. Nestrof test has been found to
in several other conditions have a high sensitivity (80.7–100%)
besides β-thal trait also seen like and high negative predictive value
a-thalassemia trait, HbE, HbS (96–100%). But, it’s poor precision,
B
and hereditary persistence of fetal inter technician variability and low
hemoglobin. It is only screening test specificity has precluded it from
and hence should be followed by becoming a routine procedure. With
A
evaluation of Hb A2. availability of cell counter various
Figures 10.1.11A and B: Nestrof test for RBC parameters can be obtained like
thalassemia minor
RDW, MCV, etc. which will help in
Mamta Manglani, Mumbai suspecting thalassemia minor and
differentiating from iron deficiency
anemia.
Anemia-Hemolytic: Thalassemia—Hb Electrophoresis by Paper and Cellulose Acetate

• With the availability of HPLC, Hb
Paper electrophoresis electrophoresis is not much used.
(Fig. 10.1.12A). • However, cellulose acetate elec-
trophoresis is still used where
HPLC is not available.
A • Paper electrophoresis is out
dated.
Cellulose acetate electrophoresis

(Fig. 10.1.12B).
B
Figures 10.1.12A and B: Hb electrophoresis by

paper cellulose acetate
Photo Courtesy: MR Lokeshwar, 187
Anemia-Hemolytic: Thalassemia—Hb Variant Analysis by HPLC

High performance liquid Very useful for quantification of
chromatography (HPLC) has HbA2 in β-thalassemia, screening
become popular and applied to as well as for identification
identify Hb variant. and quantification of other
Hemoglobins are separated hemoglobins.
A B
graphically and quantified by
Figures 10.1.13A and B: Hb variant analysis spectrophotometry utilizing a
by HPLC sophisticated computer software.
Photo Courtesy: Biorad
The test is accurate, precise and fast.
It identifies various types of
hemoglobinopathies.
Anemia-Hemolytic: Thalassemia—Radiological Changes in Thalassemia Major

“Hair on end” appearance. • Regular transfusion to keep Hb
Expansion of the bone marrow and more than 11 gm% is a must for
demineralization in the bones lead proper growth and development
to trabeculae in the skull bones of thalassemic child.
become prominent giving “Hair • Oral calcium and vitamin D
A on end” appearance. Osteoporosis should be given to all children
is a progressive systemic skeletal routinely.
disease characterized by low bone
• Chelation therapy is equally
mass and microarchitectural
important.
deterioration of bone tissue leading
to increase in bone fragility and
B susceptibility to fracture.
Figures 10.1.14A and B: Radiological changes Osteopenia and osteoporosis are
in thalassemia major major causes of morbidity in the
Photo Courtesy: MR Lokeshwar, older thalassemia population.
Nitin Shah, Mumbai
188
Anemia-Hemolytic: Thalassemia—Dexa Scan

With increasing life expectancy, • Adolescent and adult thalassemia
thalassemia bone disease including children should get calcium and
osteopenia, osteoporosis syndrome vitamin D supplementation.
(OOS) have evolved as major cause • Administration of hydroxyurea,
of debility resulting in fracture of biphosphonate and intravenous
the bones particularly lumbar spine pamidronate are other useful
and the long bones. These bone modalities.
changes are more severe in males
A B
• Pamidronate may be given in a
Figures 10.1.15A and B: Dexa scan in
than females, in those with diabetes
monthly dose of 30 mg.
thalassemic child mellitus and hypogonadism.
Photo Courtesy: MR Lokeshwar, Nitin Shah, • Hormone replacement therapy
Mumbai with estrogen in female and HCG
for males improves bone density
parameters.
• Calcitonin and inhibitor of
osteoclasts can reduce osteoporosis
and increase cortical thickness in
the thalassemic children.

Anemia-Hemolytic: Thalassemia—Cold Centrifuge
Cold centrifuge required for the Every blood bank associated
preparation of blood components, with outdoor thalassemia center
and costs few lakhs rupees. Cold must have cold centrifuge which
centrifuge is used for washing the is required to prepare saline
red cells. washed packed cells which helps
in preventing the complications
like febrile reaction, hemolytic
transfusion reaction.
Figure 10.1.16: Cold centrifuge

Photo Courtesy: Mamta Manglani,
MR Lokeshwar, Mumbai
189
Anemia-Hemolytic: Thalassemia—Laminar Flow

Laminar flow is required for All blood banks must have laminar
preparation of blood products in an flow for the preparation of blood
aseptic way. components.
Figure 10.1.17: Laminar flow

Anemia-Hemolytic: Thalassemia—Leukocyte Filter

It is ideal to use leukodepleting Leukodepletion by bedside filters is
filters at bedside; however, this more efficient than saline washing.
is not affordable to most of our
patients
Figures 10.1.18A and B: Leukocyte filter

Anupam Sachdeva
Anemia-Hemolytic: Thalassemia—Day Care Transfusion Center

In the past, thalassemic children • Advances in the present manage-
had to be admitted for blood ment of transfusion therapy in
transfusion along side other sick thalassemic children is day care
children of the ward. transfusion center which has
Prolonged hospital stay, cross made the treatment more compli-
infections, increased cost, both to ant. With the advent of outdoor
Figure 10.1.19: Day care transfusion center transfusion centers, transfusion
the parents and the institution as
Mamta Manglani, Mumbai well as psychological trauma was can be well planned causing min-
the brunt of such therapy. imal psychological trauma to the
child and parents as transfusion is
given in a cordial compliant sur-
rounding with other thalassemic
children.
190 • There are few out door transfu-
sion centers in our country.
Anemia-Hemolytic: Thalassemia—Desferal Subcutaneous Pump

Desferrioxamine (DFO) was Desferal must be given
introduced in early sixties. Though subcutaneously with the help of
ideal, administration with the help subcutaneous desferal pump over 4
A of desferal subcutaneous pump, to 6 hours, 5 to 6 days in a week. The
over 6 to 8 hours, it is high cost dose is 20 to 40 mg/kg body wt/day.
has resulted in noncompliance Adverse effects include:
especially in the developing world.
• Local reactions
• Auditory and visual toxicity
C B
• Growth retardation.
Figures 10.1.20A to C: Desferal subcutaneous
pump and Slit lamp examination • Yersinia spp./infection.
Regular auditory and visual
evaluation by audiometry and slit
lamp examination should be done
every 6 months.

Anemia-Hemolytic: Thalassemia—Oral Chelation Therapy
• Deferiprone (L1 or 1,2 dimethyl Dose: 75 to 100 mg/kg/ body wt.
1, 3 hydroxy pyridin-4-one (L1 Toxicity:
or Kelfer) developed in Hiders
• Nausea, vomiting, pain in abdo-
laboratory, London.
men and diarrhea.
• It is bidentate chelator.
• 20 to 30% children had arthropa-
• It was 1st licensed for use in India thy which is reduced after reduc-
since 1995. ing the dose or stopping the dose.
• It is given orally and less expensive. • Absolute neutropenia and throm-
Figure 10.1.21: Oral chelation therapy • It mobilizes iron from Transferin, bocytopenia have been reported.
Photo Courtesy: MR Lokeshwar, Mumbai
Ferritin and Hemosiderin.
• It is 70 to 100% as effective as
desferioxamine.
• It has no toxicity for the ear or eye.
• Urinary excretion of Ca, Cu, Mn,
and Mg was not affected.
191
Anemia-Hemolytic: Thalassemia—Splenectomy in Thalassemic Child

Hypersplenism may occur in • Splenectomy is recommended
thalassemic children due to when the transfusion require-
inadequate transfusion, allo- ment exceeds 200 to 250 ml/kg/yr
immunization and rarely auto- of packed red cell.
immune hemolysis complicating • Splenectomy should be deferred
thalassemia major and chronic liver till the age of 5 years.
disease.
• Prior to splenectomy pneumococ-
cal vaccine, H influenza vaccine,
meningococcal vaccine must be
given at least 2 to 4 weeks prior to
the procedure.
Figure 10.1.22: Splenectomy in • Routine vaccines like Hepatitis
thalassemia child
B, Hepatitis A should be given as
Mamta Manglani, Mumbai scheduled.
• After the operation life long
penicillin prophylaxis should be
advised.
Anemia-Hemolytic: Thalassemia—Stem Cell Transplantation in Thalassemia

The credit of first bone marrow The three most important adverse
transplantation in thalassemia prognostic factors for survival and
major goes to E Donald Thomas.The event-free survival are:
first BMT in India in thalassemia • Presence of hepatomegaly (liver
was done by Dr M Chandy at more than 2 cm below costal
Christian Medical College, Vellore. margin)
Sources of stem cells:
• Portal fibrosis
• Bone marrow
A
• Irregular chelation.
• Peripheral blood
The cost of BMT in India is around
• Cord blood `5 to 8 lakhs. Child wearing the cap
• Fetal liver. is the recipient as he has lost the
Though expensive, it is cost-effective hair due to radiation.
B as compared to yearly cost of regular
Figures 10.1.23A and B: Anemia-hemolytic blood transfusion and chelation
thalassemia: Stem cell transplantation in therapy.
thalassemia
192
Anemia-Kala-Azar
Child is from Darbhanga district. Treatment includes:
Presents with fever off and on • Pentavalant antimonials—Sodi-
since long duration, pallor++ um stibogluconate, 20 mg/kg/day
no koilonychia, platynachia, of antimony base for 3 to 4 weeks.
moderate hepatosplenomegaly.
• Amphotericin B 1 mg/kg/day IV ×
A pancytopenia, anemia, leukopenia,
20 days.
thrombocytopenia. Peripheral
smear for malarial parasite- • Pentamidine isothionate 4 mg/kg
negative. Aldehyde test +ve. Total by IM route on alternate day for 5
B protein 6.5 gm%, Globulin 3.5%, to 52 weeks.
Figures 10.1.24A and B: Kala-azar Albumin 3%.
Photo Courtesy: MR Lokeshwar, Bone marrow examination: LD
bodies present. Also seen in splenic
puncture and liver biopsy.

Anemia-Malaria
Progressive anemia with enlarged • PS examination is a key to diagno-
liver and spleen in newborn. sis.
• Mother may have history of • Neonatal malaria may not have
fever with chills and rigor during typical symptoms like high fever,
pregnancy and misdiagnosed as chills and rigor, but may present
A
urinary tract infection. with fever, irritability, pallor, di-
Investigations: arrhea, vomiting and nonspecific
• WBC nonspecific symptoms and may have mild
hepatosplenomegaly. Treat ma-
• Platelet count low
laria and if severely anemic blood
Coomb’s test: transfusion may be required.
Direct and indirect –ve, • Folic acid useful.
B • G6PD: Normal activity
Figures 10.1.25A and B: Malaria • Microcytic, hypochromic anemia
• PS examination—P. Vivax.
193
Anemia-Bone Marrow Failure Syndrome—Aplastic Anemia

• Petechiae and ecchymosis in a Treatment includes:
pale sick looking child without • Supportive therapy
any signs like lymphadenopathy,
• Bone marrow transplantation—
hepatosplenomegaly and bony
stem cell transplantation
tenderness is more likely to be
due to aplastic anemia. • Immunomodulation
• It is characterized by thrombo- • ATG, ALG
cytopenia, neutropenia, anemia. • Cyclosporin A
Figure 10.1.26: Anemia-bone marrow failure Anemia disproportionate to
syndrome—Aplastic anemia
• Cyclophosphamide
amount of bleeding.
Photo Courtesy: Nitin Shah, Mumbai • Methylprednisolone
• Reticulocyte count markedly sup-
• Androgen
pressed.
• Stressed erythropoiesis is evident
—HbF and I antigen.
• Flow cytometric analysis for CD48
and CD59 to rule out PNH.
• Bone marrow examination and

trephine biopsy confirm the
diagnosis.
Anemia-Nutritional—Iron Deficiency Anemia

Thirty percent of the world Common symptoms seen in
population suffer from nutritional adults or in older children like
anemia. Of these, 90% are in the stomatitis, bald tongue and loss of
developing countries. papillae, glossitis, angular chelosis,
koilonychia, platynychia, Plummer-
Winson’s syndrome, Paterson
Kelly’s syndrome are uncommon
in infants and children. In infants
and children symptoms are mainly
due to affection of cognitive
functions like irritability, lack of
concentration, not doing well in
the school, etc. Pica- like geophagia
Figure 10.1.27: Anemia-nutritional iron (eating mud), amylophagia (eating
deficiency anemia starch or raw rice) pagopagia
Photo Courtesy: MR Lokeshwar, (eating ice) are also common
Bharat Agarwal, Mumbai
symptoms. All these symptoms
respond to iron therapy.
194
Anemia-Nutritional—Megaloblastic Anemia
Pallor, anemia, blackish Oral folic acid and vitamin B12 is the
discoloration of knuckles, main stay of treatment.
hyperpigmentation around the
mouth, jaundice, and may present
with golden yellow skin, edema
feet, no lymphadenopathy, liver/
spleen. Macrocytes on PS, high
MCV, polysegmented neutrophils
on PS, indirect hyperbilirubinemia,
high LDH—helps in early diagnosis
of megaloblastic anemia.
Figure 10.1.28: Megaloblastic anemia
Anemia-Nutritional—Peripheral Smear in IDA

Microcytic hypochromic. Iron deficiency anemia is treated
RBC are typical of iron deficiency with oral iron in the dose of
anemia. Types of anemia: 3 to 5 mg/kg/body wt (elemental
iron) till Hb level reaches to normal
• Normocytic hypochromic—MCV
and then continue for at least 3 to 6
A 80–94 m3
months to replenish the stores.
• Microcytic hypochromic—MCV <
80 m3 MCH < 27
• Macrocytic hypochromic—MCV >
94 u3, MCHC <32%.
Figures 10.1.29A and B: (A) Normal RBC;

(B) Hypochromic microcytic anemia
195
Anemia-Nutritional—Reticulocyte Count
Count 500 cells—supravital staining Reticulocyte count is a very
Normal: 1 to 2%. important screening test in anemia
Low count: and reflects the bone marrow status.
• Bone marrow failure syndrome • Decreased reticulocyte count is
like an indication for bone marrow
• Aplastic anemia aspiration study, to rule out hypo-
• Fanconi’s syndrome plasic marrow or infiltration.
• BM infiltration • Where as increase reticulocyte
Figure 10.1.30: Anemia-nutritional:
• PRCA. count does not justify this inva-
reticulocyte count High count: sive procedure routinely.
Photo Courtesy: MR Lokeshwar, Increased BM response
• Hemolysis
• Hemorrhage
• Post-treatment
Anemia-Nutritional—Bone Marrow Examination

• Macrocytic hypochromic RBC Folic acid can be given:

MCV > 94 u3, MCHC—normal • Less than 6 months—15 mcg/kg
• Hypersegmented neutrophils on or 50 mcg/day.
PS examination is an early indica- • Seven months to 13 years—1 mg/
tor to suspect the diagnosis. day × 2–3 weeks then 0.1 to 0.5
A • Decrased serum B12 and folic acid mg/day.
levels. • More than 13 years—1 mg/day ×
• Bone marrow shows increased 2–3 weeks, then 0.5 mg/day.
megaloblasts confirms the diag- • Cobalamin given in the dose of
nosis. 500 to 1000 mcg/day orally × 4–6
B weeks then 25–50 mcg/day or 100
Figures 10.1.31A and B: Anemia-nutritional— mcg/day. IM for 2 weeks, fol-
bone marrow examination lowed by 100–250 mcg/dose every
Photo Courtesy: MR Lokeshwar, month till complete correction.
Bleeding Disorder—Fixed Drug Reaction
Fixed drug eruptions (FDEs) recur Drugs causing fixed drug eruptions:
in the same site or sites each time a • Paracetamol
particular drug is taken; with each • Sulphonamide antibiotics
exposure however, the number of including cotrimoxasole/
involved sites may increase. Fixed phenacetin
drug eruption is a type of allergic • Nonsteroidal anti-inflammatories
reaction to a medicine. Usually (NSAIDs)
just one drug is involved, although • Sedatives including barbiturates,
independent lesions (patches) benzodiazepines
from more than one drug have • Chlordiazepoxide
been described. Lesions are more • Quinine
common on the limbs than the • Dapsone
trunk; the hands and feet, genitalia • Fluconazole
(glans penis) and perianal areas and • Doxycycline
196 Figure 10.1.32: Fixed drug reaction around the mouth or the eyes. • Clarithromycin
Photo Courtesy: MR Lokeshwar, Nitin Shah • Ciprofloxacin.
Bleeding Disorder—Idiopathic Thrombocytopenic Purpura

• Most common cause of acute • “Treat the child and not the plate-
thrombocytopenia and bleeding let count.” “Nonfrantic watchful
in otherwise well child. waiting”. Treat the child if there
• History of viral infections—like is severe thrombocytopenia less
Epstein barr virus, HIV. than 10 to 20,000 platelet count,
associated with mucosal bleed.
• Sudden onset of generalized
No therapy other than education
petechiae, purpura and bruises
A B and counselling of the family for
classic presentation in previ-
Figures 10.1.33A and B: Idiopathic
mild ITP. IVIG at a dose of 0.8 to
ously healthy child, age group
thrombocytopenic purpura 1.0 gm kg/day for 1 to 2 days. In-
1 to 4 years. Often there may be
Photo Courtesy: MR Lokeshwar, travenous anti D globulin 50 to 75
Nitin Chavan, Mumbai bleeding from the gums, mucus
mcg/kg for children with ITP who
membrane and rarely associated
are not splenectomized or not Rh
with CNS bleeds.
negative.
• Bone marrow aspiration is other
• Steroid 1 to 4 mg/kg/4 days, fol-
wise normal except increased
lowed by 2 mg/kg/day × 2 to 3
megakaryocytes.
weeks; then taper.
• Presence of obvious spleno-

hepatomegaly should lead to the
suspicion of sinister diseases like
leukemia.
• Bleeding disproportionate to
platelet count, with pancytope-
nia may be suggestive of aplastic
anemia or leukemia.
Bleeding Disorder—Hemophilia
Hemophilia A (Factor VIII • Treatment includes prompt cor-
deficiency) and Hemophilia B rection of the factors involved.
(Factor IX) are the most common In hemophilia A factor VIII is
and serious congenital coagulation introduced 20 to 40 IU/kg/day for
factor deficiencies. Hemophilia C is minor bleeds or hemarthrosis and
the bleeding disorder with reduced major bleeds 50 to 100 Iu/kg for
level of factor XI . 7 to 10 days. Initially continu-
They are associated with ous infusion 2 to 3 Iu/kg/hour
prolongation of activated partial continuously may be given and
thromboplastin time (APTT or then may be by IV bolus. Desmo-
PTT). The symptoms of above pressin acetate may be given to
conditions are common and are increase endogenously produced
inherited. Obvious symptoms are factor VIII.
brusing intramuscular hematoma, • Bed rest, deep pressure for 15
hemarthrosis, bleeding from to 20 minutes, ice pack or pack
the minor traumatic lacerations with petrolatum guaze are sup-
particularly of the mouth. portive line of treatment. Hemo-
Diagnosed by increased PTT and philia B prothrombin complex
Figure 10.1.34: Bleeding disorder—hemophilia
normal PT and normal platelet concentrate 60 to 80 Iu/kg on day
Photo Courtesy: Anupam Sachdeva
count, bleeding time, thrombin time 1 then 40 Iu/kg on every other day
and reduced factor levels. for 7 to 10 days. 197
Bleeding Disorder—Vitamin K Deficiency

Among the most common Single dose of vitamin K is sufficient
hemostatic disorder in the newborn is to stop the bleeding and return the
hemorrhagic disease of the newborn PT values to the reference range.
and termed as vitamin K deficiency Treatment of vitamin K (1 mg)
bleeding. It may be of early onset subcutaneously or IV may be
occurring in less than 24 hours after given. Observe for jaundice and
birth and may be associated with kernicterus especially in full-
maternal medications that interfere term infant. FFP may be given
with vitamin K. The classic onset for moderate to severe bleeding.
of VKDB is 2 to 7 days after birth Prothrombin complex concentrate
in breastfed infants. Late onset is in life threatening bleeding.
unexpected bleeding attributable Vitamin K1 should be given to all
to severe vitamin K deficiency in newborn as single, intramuscular/
infants 2 to 12 weeks of age occurs intravenous dose of 0.5 to 1 mg
primarily in exclusively breastfed and 0.5 mg for infants less than
infants who had received no vitamin 34 weeks. Oral administration of
Figure 10.1.35: Bleeding disorder—Vitamin K K prophylaxis. May also be seen vitamin K have efficacy similar to
deficiency
Photo Courtesy: MR Lokeshwar, in infants who have intestinal that of parenteral administration.
Mamta Manglani, Mumbai malabsorption, cholestatic jaundice,
cystic fibrosis, and alpha 1 antitrypsin
deficiency.
Leukemia—Acute Lymphoblastic Leukemia

Suspect leukemia when associated • Bone marrow aspiration and
with persistant fever, pallor, evaluation, immunopheno
bleeding tendency, generalized typing, cytogenetics are required
lymphadenopathy with pancytopenia for diagnosis. Treatment includes:
and abnormal cells on peripheral • Supportive therapy, chemotherapy
smear with thrombocytopenia.
• Radiation therapy whenever
Various types of leukemia seen in
required.
A B children includes acute lymphatic
Figures 10.1.36A and B: Leukemia-acute anemia, acute myeloid leukemia,
lymphoblastic leukemia chronic myeloid leukemia. Smear
Photo Courtesy: Nitin Shah, Mumbai shows lymphoblasts.
• When associated with persistant With current management

fever, pallor, bleeding tendency, protocol the cure rate for ALL has
generalized lymphadenopathy with significantly improved and more
pancytopenia and abnormal cells than 70% can be cured.
on peripheral smear and throm-
bocytopenia suspect leukemia.
A B
Various types of leukemia seen in
children includes:
Figures 10.1.37A and B: Leukemia-acute
lymphoblastic Leukemia • Acute lymphoblastic leukemia
Photo Courtesy: MR Lokeshwar, • Acute myeloid leukemia
Mamta Manglani, Mumbai • Chronic myeloid leukemia. Smear
shows lymphoblasts L1 type.
198
Anemia in Newborn—Fetomaternal Transfusion

Fetomaternal hemorrhage is one of • When you evaluate newborn, you
most important cause of neonatal have to evaluate two patients—
microcytic, hypochromic anemia. child and mother.
A
Retic count may be increased. • When no cause of etiopathology
G6PD screening test: Normal seen in the child, look for the
activity, Coomb’s test both direct cause in the mother.
indirect are negative. Kleihauer- • Attending pediatrician at the time
Betke test done on mother’s smear of delivery should not only exam-
B show acid resistance pink colored ine newborn, but also examine
Figures 10.2.1A and B: Anemia in newborn— fetal cells. the placenta.
Fetomaternal transfusion Diagnosis: Fetomaternal
hemorrhage.

Autoimmune Hemolytic Anemia on Steroid Therapy
Autoimmune hemolytic anemia Management depends upon
results from interaction of red severity of intravascular hemolysis
cell and immune systems and is and renal involvement:
characterized by shortened red cell • Maintain good urine out put.
life span, hemolysis and anemia. It
• Folic acid supplementation.
is caused by autoantibodies to red
cell antigen which includes: • Pack red cell transfusion with
A
cross matched, least in compat-
• Warm reactive antibodies
ible blood.
• Cold agglutinin disease
• Cortical steroids are the first line
• Drug induced or and mainstay in the therapy of
• May be secondary to immune AIHA.
deficiency, HIV and drug induced • IV methylprednisolone in the
B or autoimmune disorder or dose of 1 to 2 mg/kg 6 to 8 hours
Figures 10.2.2A and B: Autoimmune hemolytic following infections like myco- and then oral prednisolone 2 mg/
anemia on steroid therapy plasma or malignancies. kg/day/2 to 4 weeks and then
Bharat Agarwal, Mumbai taper over three months.
• IV IgG have been tried in AIHA
used in high dose 2 gm/kg
divided in 2 doses. Other modali-
ties tried are exchange transfu-
sion.
• Splenectomy and cytotoxic drugs.
199
Gaucher’s Disease
Lipid disorder characterized • Treatment includes: Enzyme
by hematological problems, replacement therapy with recom-
organomegaly, skeletal involvement binant acid beta glucocidase.
manifesting as bone pain and • Most extraskeletal symptom
pathological fractures. organomegaly, hematologic
It is most common lysosomal indices are reversed by an initial
storage disorder. Gaucher’s disease debulking dose of enzyme (60 Iu/
results from deficient activity of kg) administered by intravenous
A B
lysosomal hydrolase—acid beta infusion every other week.
Figures 10.2.3A and B: Gaucher’s disease
glucosidase. Enzyme defect results • Bone marrow transplantation
Mamta Manglani, Mumbai in accumulation of undegraded have been tried but results in sig-
glycolipid substrate—glucosyl nificant morbidity and mortality.
ceramide. This results in infiltration
of bone marrow, progressive
hepatosplenomegaly and skeletal
complication.
Hereditary Elliptocytosis
Hereditary elliptocytosis are Treatment rarely indicated for
genetically transmitted autosomal patients with mild elliptocytosis.
dominant or recessive, uncommon However in severe cases red blood
RBC disorder with wide spectrum cell transfusion may be required.
—asymptomatic and often • Daily folate.
discovered accidentally during • Phototherapy and exchange
routine peripheral blood smear transfusion are warranted in case
examination which shows 15 to 20% of severe anemia and hyperbiliru-
elliptocytosis to mild hemolytic binemia in newborn period.
anemia with splenomegaly and • Gallstones detection usually
Figure 10.2.4: Hereditary elliptocytosis gallstones and may manifest done in patients older than six
Photo Courtesy: MR Lokeshwar, with moderate or even severe
years and hence should undergo
hemolysis. In neonatal period rarely abdominal sonography.
symptomatic and may have severe • Special attention is needed dur-
hemolytic anemia with red blood ing viral infection (parvo virus)
cell fragmentation, poikilocytosis, particularly when there is sudden
elliptocytosis and microspherocytes. precipitous drop in Hb.
• Splenectomy should be consid-
ered when there is growth failure,
skeletal changes, leg ulcers, etc.
200
Hereditary Spherocytosis
Pallor off and on : Recurrent Treatment consist of:
jaundice, mild hepatosplenomegaly. • Regular follow-up.
history of recurrent jaundice in
• Immunization with pneumococ-
parents or family members, history
cal vaccine, meningococcal vac-
of pain in abdomen with history of
cine, HIB vaccine in addition to
splenectomy or cholecystectomy or
routine vaccines.
gallstone in any members of family
will help in the early diagnosis • Splenectomy may have to be
A of spherocytosis. Investigations considered if anemia is persistent,
show increased retic count. progressive and recurrent.
Smear examination confirms the • Surgery may be indicated if child
diagnosis. More than 15% RBC are develops severe cholecystitis, gall-
spherocytes. Increased osmotic stones with recurrent abdominal
B
fragility. pain.
Figures 10.2.5A and B: Hereditary
spherocytosis • Severe anemia may need blood
Photo Courtesy: MR Lokeshwar, transfusion.

Hereditary Spherocytosis in a Family—Icterus in Both Mother and Child
Spherocytosis has wide spectrum of • Not only child should be exam-
symptoms ranging from jaundice in ined but also proper family his-
neonatal period needing exchange tory particularly for splenectomy,
transfusion to silent disease cholecystectomy and physical
detected in 80 years old man as evaluation of the parents mainly
grand child had spherocytosis. for enlarged spleen should be
In between range of symptoms done.
includes—pain in abdomen, • Peripheral smear examination and
recurrent jaundice, gallstone, osmotic fragility are initial tests to
aplastic crisis, hemolytic crisis, etc. be done. Treatment depends upon
High index of suspicion and good the severity of the disease and
Figure 10.2.6: Hereditary spherocytosis in a clinical evaluation is the key to the hence ranges from mere follow-up
family—Icterus in both mother and child diagnosis.
Photo Courtesy: MR Lokeshwar, to recurrent blood transfusion as
Mamta Manglani, Mumbai and when needed and splenecto-
my and cholecystectomy whenever
required.
201
Hypothyroidism with Anemia

Persistent anemia, growth • Supportive therapy,
retardation, history of prolonged • Newborn—Eltroxin 10 mcg/kg
physiological jaundice, persistent daily
constipation, not doing well
• Older children—initially 50 to 100
in school. On exam: pallor ++,
ugm increased by 25 to 50 ug at
macroglossia, wide fontanelle,
3 to 4 weeks interval as required.
hoarse cry, hypotonia++,
Maintainance 100 mcg to 200 ug
distended abdomen, umbilical
daily.
hernia. Hb ranging 6 to 8 gm.
Multiple courses of oral iron
therapy—no improvement. TS,
TIBC, serum ferritin-N. HbF
HbA2-N, Coomb’s-neg. B12 and
Figure 10.2.7: Hypothyroidism with anemia Folic acid—normal. Normal T3,
Photo Courtesy: MR Lokeshwar, T4 decreased, TSH increased.
Mamta Manglani, Mumbai Diagnosis—hypothyroidism.
Lead Poisoning Presenting as Anemia

Iron deficiency child initially Treat for lead poisoning. The
responding and then later not treatment with BAL 10 mcg/d is
responding to oral iron therapy specific treatment.
should lead to possibility of
associated conditions like:
• Lead poisoning.
• Associated folic acid or B12 defi-
A B
ciency.
Figures 10.2.8A and B: Lead poisoning • Thalassemia minor.
presenting as anemia Look for:
Nitin Chavan, Mumbai • Basophilic stippling. It is one of
early indicators.
• History of any members of the
family working for car battery or
lead factory.
• Lead level diagnostic.
202
Persistent Anemia in Celiac Disease

History of loose motions off and Child was given parenteral iron
on large bulky stools. Distention of correction of the diet, avoid
abdomen ++ History of persistent wheat, and wheat products.
anemia—not responding to oral Child responded well and growth
iron therapy. Hb 7 gm% (low), MCV improved.
60 u3 (low), RBC 3.4 m. TS 6% (low),
serum ferritin 12 ng/dl (low), HbF
0.8%, HbA2 2.8% (N) Coomb’s test
negative. Antigliadin antibodies:
+ve. Further investigations
confirmed the diagnosis of
‘Gluten induced enteropathy with
malabsorption syndrome’.
Figure 10.2.9: Persistent anemia in celiac disease

Photo Courtesy: MR Lokeshwar, Mamta Manglani,
Mumbai

Protein C Deficiency (Homozygous)
Protein C, protein S, antithrombin Anticoagulant therapy initiated with
III play important role in the appropriate dose of heparin or low
control of hemostasis, by inhibiting molecular weight heparin for 5 to
activated factor Va and factor VIIIa 10 days and then warfarin is begun
which converts prothrombin to within 24 hours to produce INR of
thrombin. And inhibits the complex 2 to 3.
of factor IX a, factor VIIIa, and
A B phospholipids which converts factor
Figures 10.2.10A and B: Protein C deficiency X to factor Xa.
(Homozygous)
Purpura Fulminans
Potentially fatal disorder that follows • Neither heparin therapy, nor an-
infection with meningococcus, tiplatelet drugs have been shown
Streptococcus, varicella, and rubella. to be effective.
Thrombosis of small arterioles leads • Fresh frozen plasma used suc-
to infarction and hemorrhage of cessfully to treat these infants.
A B
the skin, subcutaneous tissue and
Figures 10.2.11A and B: Purpura fulminans • A highly purified concentrate of
muscles. It begin with purpuric
Photo Courtesy: MR Lokeshwar, protein C is now available and is
Bharat Agarwal, Mumbai lesion on the skin that coalesces and
efficacious in the treatment.
then become necrotic.
• Liver transplantation have been
found to be successful, and has
resolved thrombosis episodes. 203
10.3 HEMATOLOGICAL EMERGENCIES

Disseminated Intravascular Coagulation
Disseminated intravascular Corner stone of the management is

coagulation is characterized the prompt diagnosis of underlying
by activation of coagulation condition and initiation of the
system resulting in generation of specific treatment of the underlying
uncontrolled formation of fibrin disorder.
within the blood vessels leading Replacement therapy: Aim is to
to microvascular thrombosis and correct the consumption of the
consumption of platelets and platelet, coagulation factors and
coagulation proteins resulting inhibitors in order to prevent or
in variable bleeding symptom. arrest the hemorrhagic episode.
Patients with acute DIC are critically
• Platelet transfusion—1 to 2
ill and diagnosis is based upon
unit/10 kg of body wt when plate-
platelet count PT, APTT, clotting
let count is less than 20,000/mm3
factors and inhibitors and presence
or in presence of major bleeding
of D Dimers. Fragmented red
if the platelet count is less than
Figure 10.3.1: Disseminated intravascular cells, helmet cells are seen in the
50,000/mm3.
coagulation peripheral smear with reduced
Photo Courtesy: MR Lokeshwar, platelet count. • Fresh frozen plasma (FFP—15-20
Anupam Sachdeva, Mumbai ml/kg) or
• Fibrinogen concentrate or cryo-
precipitate 1 bag/10 kg/body wt.
G6PD Deficiency
Sudden onset of severe pallor since A normal G6PD deficiency
24 hours, preceded by fever, cold screening test during hemolysis
and cough. Child treated by family does not rule out G6PD deficiency.
physician. Clinically NAD except Young reticulocytes have high
severe pallor? Mild icterus. Low Hb, G6PD enzyme. Repeat the test after
increased reticulocyte count, WBC three months. Clinical presentation:
normal. On detailed enquiry – Newborn period—jaundice
A
• History of aspirin given for high needing phototherapy, exchange
fever transfusion. Acute hemolytic
episodes—self limited—stop
• Child is from Khoja community
offending drug. May need packed
• G6PD—Decolorization time 25 red blood transfusion. Chronic
min. hemolytic anemia—rare. Common
• Coomb’s direct and indirect— drugs to be avoided:
Negative. • Antimalarial drugs
B • Treated with packed cell transfu- • Antipyretics like aspirin
Figures 10.3.2A and B: G6PD deficiency sion
Photo Courtesy: MR Lokeshwar, • Sulpha group of drugs
• G6PD repeated after 6 weeks de-
Mamta Manglani, Mumbai • Nitrofurantoin
colorization time > 120 m.
• Ascorbic acid
• Vitamin K.
204
Hemolytic Uremic Syndrome

Sick child presenting with history of • Treat aggressively, with antibiot-
loose motions, toxic look, purpuric ics as required.
spots, mild heptosplenomegaly, • Correct electrolyte imbalance.
progressive pallor not passing urine
• Dialysis may be required.
for >8 to 12 hours suspect HUS.
A B Investigations show altered renal
Figures 10.3.3A and B: Hemolytic uremic function, electrolytes—increased
syndrome potassium.Peripheral smear
Photo Courtesy: MR Lokeshwar, examination shows broken cells,
Nitin Chavan,, Mumbai
crenated cells, hamlet cells, burr cells.
10.4 SYNDROMES
Battered Baby Syndrome
Recurrent hematoma over the More common in female children.
forehead, fracture of the clavicle, High index of suspicion is key to
punch marks over the thigh in a early diagnosis.

newborn child suggested possibility
of “Battered baby syndrome”.
All screening tests for bleeding
disorder—CBC, bleeding time, clot
retraction, PT, PTT, platelet count
A B are normal.
Figures 10.4.1A and B: Battered baby
syndrome
Photo Courtesy: Raj Warrier
Diamond Blackfan Syndrome

Diamond blackfan syndrome is a Main stay of treatment is:
constitutional chronic pure red cell • Packed red cell transfusion.
aplasia. Inheritance is autosomal
• Steroids—1 to 2 mg of prednisolo-
dominant or recessive. Associated
ne for 4 to 6 weeks and then to
abnormalities:
maintain minimal required dose.
• Strabismus, webbed neck, abnor- Initially daily then on alternate
A
mality of fingers, ribs and thumb. day for months.
• Congenital renal anomalies like • Methylprednisolone may be tried.
double ureter with hydronephro-
• Chelation may be required for
sis, ectopic kidney.
iron over load.
• Reticulocytopenia.
• IV IgG have been tried.
• Bone marrow with profound
• Successful bone marrow trans-
erythroid hypoplasia with mark-
plantation have been reported.
edly increased M:E ratio.
• Fetal hemoglobin elevated.
• I antigen on the red cell surface
B
increased.
Figures 10.4.2A and B: Diamond blackfan
syndrome • Hypogammaglobulinemia. 205
Dyskeratosis Congenita
Rare disorder characterized by: No specific treatment. Supportive
• Skin hyperpigmentation. line of treatment and treat the
complications.
• Dystrophy of nail.
• Abnormality in the teeth.
• Hair changes.
• Leukoplakia.
• Risk of malignancy.
• Occular abnormalities.
Blepharitis and cataract:
• Growth retardation.
• May develop initially single
Figure 10.4.3: Dyskeratosis congenita cytopenia, severe diminution in
megakaryocytes.
• No abnormal chromosome fragility.
• 80% evolve into aplastic anemia.
Fanconi’s Anemia
Inherited aplastic anemia Without therapy 80% die before
characterized by: the age of 16 years or 2 to 4 years
• Perioral hyperpigmentation. following aplasia:
• Café-au-lait spots. • Bone marrow transplantation
is only the hope of long-term
• Short stature, microcephaly,
survival.
mental subnormality, skeletal
abnormality. • Traditional therapy is steroids,
androgens—oxymethalone, nan-
• Renal anomalies, hypogonadism
dralane alone or incombination.
• Deafness, ear malformation
• Colony, stimulating factors like
A • GI anomalies GCSF, erythropoietin, IL3, IL6.
• Cardiopulmonary anomalies
Laboratory diagnosis:
• Progressive anemia with pancyto-
penia, low retic count
• Increased HbF and presence of I
antigen.
Bone marrow and trephine
biopsy documents hypoplasia.
B Cytogenetics show chromosomal
Figures 10.4.4A and B: Fanconi’s anemia changes like break, condensation,
Photo Courtesy: MR Lokeshwar, gaps, re-arrangement, etc.
206
Glanzmann’s Thrombasthenia
It is one of the congenital platelet • In all but severe platelet function
functional disorder associated with defects desmopresin 0.3 mcg/kg
severe platelet dysfunction leading IV may be used for mild to mod-
to prolonged bleeding time and erate bleeding episodes.
normal platelet count. Aggregation • Platelet transfusion—1 unit/
studies shows abnormal or absent 5 to 10 kg corrects the defect in he-
aggregation with all agonist except mostasis and may be life-saving.
ristocetin. The disorder is caused
• In severe cases recombinant fac-
by deficiency of platelet fibrinogen
tor VII A is effective.
Figure 10.4.5: Glanzmann’s thrombasthenia receptor GP2B-IIIA.
Photo Courtesy: MR Lokeshwar, • Stem cell transplantation may be
Nitin Shah, Mumbai curative.
Henoch’s Schönlein Purpura

It is a systemic vasculitis involving Treatment is essentially:
the small vessels capillaries, • Symptomatic in mild cases, an-
arterioles and venules with

algesics like paracetamol for the
IgA-dominant immune deposits pain and antispasmodic for relief
typically involve in skin, gut and of abdominal pain.
glomeruli.
• When abdominal pain is severe
It is characterized diffused small dose of steroid is useful.
abdominal pain, arthritis or
arthralgia and renal involvement
(hematuria/ proteinuria) in the
presence palpable purpura.
Figure 10.4.6: Henoch’s schonlein purpura Biopsy showing predominant IgA
Photo Courtesy: MR Lokeshwar, Nitin Shah, deposition. This may be triggered
Mumbai by infections Steptococcus, Yersinia,
Mycoplasma, Toxoplasma, Varicella,
measles, HIV.
Kasabach-Merritt Syndrome
Association of giant Multiple modalities have been tried
hemangioma with localized such as:
intravascular coagulation • High dose cortical steroids.
causing thrombocytopenia and
• Local radiation therapy
hypofibrinogenemia is called
Kasabach-Merritt syndrome. • Antiangiogenic agents:
Peripheral blood smear shows Interferon, laser photo coagula-
A B
microangiopathic changes. tion.
Figures 10.4.7A and B: Kasabach-Merritt
syndrome • Surgical excision.
Photo Courtesy: MR Lokeshwar, Nitin Shah,
Mumbai
207
Wiscott-Aldrich Syndrome
An X linked recessive syndrome • The patient should be given
characterized by: monthly infusion of IVIG.
• Atopic dermatitis. • Appropriate nutrition.
• Thrombocytopenic purpura. • Use only killed vaccine.
Small defective platelets with • Platelet transfusion for serious
normal appearing megakaryocyte. bleeding.
• Undue susceptibility to infection. • Bone marrow transplantation
• Prolonged bleeding. treatment of choice.
May manifest as:
• Bloody diarrhea during infancy.
• Atopic dermatitis.
• Recurrent infection.
• The predominant immunoglobulin
pattern is low level of IgM, ele
vated IgA and IgE and normal or
Figure 10.4.8: Wiscott-Aldrich syndrome slightly low IgG concentration.

208
Section 11
Oncology
Section Editors
Purna Kurkure, Anupama S Borker
Photo Courtesy
Purna Kurkure, Anupama S Borker, Leni Mathew, Sajid Qureshi, Sumeet Gujral

11.3 Oncologic Emergencies
11.4 Syndromes
Section Outline
11.1 COMMON CONDITIONS 211 ♦ Rhabdomyosarcoma—Bone Scan Showing Multiple
♦ Abdominal Lump 211 Bony Metastases 221
♦ Askin Rosai Tumor 211 ♦ Rhabdomyosarcoma—Lung Metastases 222
♦ Ependymoma 212 ♦ Rhabdomyosarcoma—Orbital 222
♦ Ewing’s Sarcoma of Left Ulna 212 ♦ Rhabdomyosarcoma—Vaginal Botryroid 222
♦ Ewing’s Sarcoma of Scapula 212 ♦ Sacrococcygeal Teratoma 223
♦ Langerhans’ Cell Histiocytosis—Proptosis 213 ♦ Therapeutics—Hickman Catheter for Leukemia
♦ Leukemia—Aspergillous Cavity in Lung 213 Therapy 223
♦ Leukemia—Chickenpox in Acute Lymphoblastic ♦ Therapeutics—Necrotic Ulceration Following Vincristine
Leukemia (ALL) Patient 213 Extravasation 223
♦ Therapeutics—Peripherally Inserted Central
♦ Leukemia—Extensive Thrush during
Chemotherapy 214 Catheters 224
♦ Leukemia—Gum Hypertrophy of AML M4 214
♦ Therapeutics—Port-a-Cath 224
♦ Leukemia—Icthyma Gangrenosum with
♦ Wilms’ Tumor 224
Pneumonia 214 11.2 UNCOMMON CONDITIONS BUT NOT RARE 225
♦ Lymphoma—Burkitt’s Lymphoma 215 ♦ Atypical Teratoid Rhabdoid Tumor of the Brain 225
♦ Lymphoma—Cervical Lymphadenopathy of Hodgkin’s ♦ Congenital Fibrosarcoma of the Foot 225
Lymphoma 215 ♦ Cystic Hygroma 225
♦ Lymphoma—Lymphoblastic Lymphoma 215 ♦ Desmoid Fibromatosis 226
♦ Neuroblastoma—Adrenal—CT Scan 216 ♦ Hepatoblastoma 226
♦ Neuroblastoma—Proptosis at Diagnosis and after ♦ Leukemia Cutis 226
Treatment 216 ♦ Leukemia—Bony Lesion in ALL 227
♦ Neuroblastoma Stage IVs 216 ♦ Leukemia—Chloroma 227
♦ Neuroblastoma—Bone Marrow Infiltration 217 ♦ Lymphoma—Subcutaneous Nodules of Anaplastic
♦ Neuroblastoma—Bony Metastases 217 Large Cell Lymphoma 227
♦ Neuroblastoma—Pelvic Neuroblastoma 217 ♦ Lymphoma—Cutaneous T-Cell Lymphoma 228
♦ Osteosarcoma of Lower End of Left Femur 218 ♦ Lymphoma—Tonsillar Lymphoma 228
♦ Osteosarcoma of Upper End of Left Humerus 218 ♦ Rhabdomyosarcoma of Right Cheek in a Patient with
♦ Retinoblastoma on CT Scan 218 Microcephaly 228
♦ Retinoblastoma with Orbital Implant 219 ♦ Thyroid Carcinoma in an Adolescent Female 229
♦ Retinoblastoma—Advanced Stage 219
11.3 ONCOLOGIC EMERGENCIES 229
♦ Retinoblastoma—Early Stage 219
♦ Acute Raised Intracranial Pressure 229
♦ Retinoblastoma—Postenucleation Syndrome 220
♦ Massive Pleural Effusion 229
♦ Rhabdomyosarcoma after Multiple Attempts at
♦ Mediastinal Lymphadenopathy 230
Surgery 220
♦ Rhabdomyosarcoma of Chest Wall 220 11.4 SYNDROMES 230
♦ Rhabdomyosarcoma of Left Parotid Region 221 ♦ Down’s Syndrome—AML M7 230
♦ Rhabdomyosarcoma of Middle Ear Presenting as Facial ♦ Neurofibromatosis Type I with Malignant Peripheral
Nerve Palsy 221 Nerve Sheath Tumor 230
Abdominal Lump
Malignant abdominal tumors are Imaging with CT scan followed by
usually firm to hard. Wilms’ tumor biopsy or exploratory laprotomy to
and neuroblastoma are common ascertain the diagnosis.
in younger patients; lymphomas
predominate in older children.
Pelvic masses extending into the
abdomen are likely to be germ cell
tumors or rhabdomyosarcoma.
Figure 11.1.1: Abdominal lump

Photo Courtesy: Anupama S Borker, Manipal

Askin Rosai Tumor
A 10 years old girl presented with Chemotherapy with vincristine,
cough and breathlessness. CT scan ifosfamide and etoposide;
revealed soft tissue mass with rib alternating with vincristine,
erosion. Biopsy confirmed primitive cyclophosphamide and doxorubicin
neuroectodermal tumor of the chest leads to response enabling surgical
wall (Askin Rosai Tumor). resection followed by radiotherapy
CT scan showing right chest wall and maintenance chemotherapy.
mass with rib erosion.
Figures 11.1.2A and B: (A) Askin Rosai tumor;

(B) Askin Rosai tumor: CT scan
Photo Courtesy: Purna Kurkure, Mumbai
211
Ependymoma
A 12 year old girl presented with Craniotomy with excision.
headache and vomiting. MRI Histopathology revealed
brain showed a heterogeneously ependymoma. Adjuvant
enhancing lesion filling the whole radiotherapy is recommended to
4th ventricle with hydrocephalous. the tumor bed. There is no defined
role for chemotherapy.
A B
Figures 11.1.3A and B: Ependymoma

Ewing’s Sarcoma of Left Ulna

A 16 years old girl presented with Neoadjuvant chemotherapy for 9

painless swelling of the forearm of to 12 weeks followed by response
two months duration. X-ray revealed evaluation; local therapy with
a soft tissue mass with destruction surgery and/or radiation therapy
of the underlying shaft of the ulna. followed by adjuvant maintenance
Biopsy confirmed Ewing’s sarcoma. chemotherapy.
Metastatic work-up with CT scan
A B of the chest, bone scan and bone
Figures 11.1.4A and B: Ewing’s sarcoma of marrow aspiration and biopsy did
left ulna not reveal any evidence of disease.
Ewing’s Sarcoma of Scapula

A 14 years boy with painless Neoadjuvant chemotherapy
swelling of right shoulder and back. for 9 to 12 weeks followed by
Biopsy revealed Ewing’s sarcoma. response evaluation followed by
CT chest, bone scan and bone surgery and/or radiation therapy
marrow aspiration and biopsy did followed by adjuvant maintenance
not reveal any evidence of spread. chemotherapy.
A B
C D
Figures 11.1.5A to D: Scapular Ewing’s
212 Sarcoma
Langerhans’ Cell Histiocytosis—Proptosis

A 4 year old child with proptosis Staging investigations with skeletal
of left eye, biopsy of retro-orbital survey, bone scan, CT scan of
swelling revealed Langerhans’ cell chest, abdomen and pelvis and
histiocytosis bone marrow aspiration and biopsy
will ascertain the extent of the
disease. This disorder of immune
dysregulation mimics malignancy
and responds dramatically to
chemotherapy with vinblastine and
prednisone.
Figure 11.1.6: Proptosis in Langerhans’ cell

histiocytosis

Leukemia—Aspergillous Cavity in Lung
A 4 years old boy with acute Six week treatment with
lymphoblastic leukemia, completed voriconazole led to complete
induction chemotherapy, and resolution of the cavity.
developed cough, rhonchi and
hypotension. Chest X-ray revealed
left upper zone cavity, which was
confirmed on CT scan.
A B
Figures 11.1.7A and B: Aspergillous cavity of

the lung
Leukemia—Chickenpox in Acute Lymphoblastic Leukemia (ALL) Patient

Extensive chickenpox in Immediate initiation of therapy with
immunocompromised child with intravenous acyclovir at the onset
acute lymphoblastic leukemia (ALL) helps curtail the crop of pox lesions
during maintenance therapy. and the risk of dissemination.
Figure 11.1.8: Chickenpox in ALL patient 213

Leukemia—Extensive Thrush during Chemotherapy

Candida infection of the oral Prevention of oral candidiasis
cavity is common in patients with by daily prophylactic use of
leukemia. The risk factors for clotrimazole.
invasive fungal infection are prior
colonization/infection, state of
immunosuppression and organ
dysfunction.
Figure 11.1.9: Extensive thrush during

leukemia chemotherapy
Leukemia—Gum Hypertrophy of AML M4

A 12 years old girl presented with Induction chemotherapy followed

painful swelling and bleeding of by 3 to 5 cycles of consolidation
gums of 3 weeks duration. CBC chemotherapy.
revealed Hb = 8 gm/dl, WBC count
= 56,000/cmm, Platelet count
= 48,000/cmm. Bone marrow
aspiration revealed acute myeloid
leukemia M4 type.
Figure 11.1.10: Gum hypertrophy of AML M4

Leukemia—Icthyma Gangrenosum with Pneumonia

A 6 years old girl with acute Aggressive antibiotics with specific
lymphoblastic leukemia, on antipseudomonal coverage and
induction chemotherapy, developed debridement after neutropenia
necrotic lesion over the dorsum of recovers.
the hand which then spread to the
A B face and the hard palate. X-ray chest
showed a right-sided pneumonia.
C D
Figures 11.1.11A to D: Icthyma gangrenosum

with pneumonia
214 Photo Courtesy: Anupama S Borker, Manipal
Lymphoma—Burkitt’s Lymphoma
A 7 years old boy presented with Bone marrow aspiration and biopsy
swelling of the right cheek of 2 and lumbar puncture is required
months duration. Biopsy revealed for staging. Short duration intensive
Burkitt’s lymphoma. chemotherapy with good supportive
care results in good survival.
A B
Figures 11.1.12A and B: Burkitt’s lymphoma

Photo Courtesy: Purna Kurkure,
Sumeet Gujral, Mumbai
Lymphoma—Cervical Lymphadenopathy of Hodgkin’s Lymphoma

Large cervical lymph node mass, CT scan of neck, chest, abdomen
growing slowly over 4 to 6 months, and pelvis along with bone marrow
without constitutional symptoms biopsy for complete staging.
like fever or weight loss. Treatment with chemotherapy with

Biopsy revealed Hodgkin’s or without radiotherapy depending
lymphoma. on stage.
Figure 11.1.13: Cervical lymphadenopathy of

Hodgkin’s lymphoma
Lymphoma—Lymphoblastic Lymphoma
A 5 years old boy presented with Bone marrow aspiration to
generalized lymphadenopathy, ascertain marrow involvement,
with fever and weight loss. The if present to treat as acute
differential diagnosis was leukemia lymphoblastic leukemia.
and lymphoma. Biopsy revealed
lymphoblastic lymphoma.
Figures 11.1.14A and B: Lymphoblastic

lymphoma
Sumeet Gujral, Mumbai 215
Neuroblastoma—Adrenal—CT Scan
A 2 years old boy presented with Four cycles of multiagent
irritability, anorexia, pallor and chemotherapy with
abdominal distention. CT scan cyclophosphamide, doxorubicin,
showed large tumor above the cisplatin and etoposide followed by
right kidney with corresponding response evaluation and complete
uptake on MIBG scan. Biopsy excision of the mass with lymph
confirmed neuroblastoma. Urine node sampling; which is important
VMA was elevated. Bone scan and milestone in the total management.
A B bone marrow were uninvolved.
Figures 11.1.15A and B: CT scan showing right N-myc amplification by FISH
adrenal neuroblastoma on pretreatment biopsy paraffin
Photo Courtesy: Anupama S Borker, Manipal block is crucial for optimal risk
stratification as it dictates treatment
protocol.
Neuroblastoma—Proptosis at Diagnosis and after Treatment

Proptosis secondary to retro- Initiation of chemotherapy

orbital deposits is common in after biopsy and staging leads
neuroblastoma. to complete resolution of the
proptosis.
Figures 11.1.16A and B: Proptosis in

Neuroblastoma; at diagnosis and after
starting treatment
Neuroblastoma Stage IVs

Massive liver enlargement due to Minimal chemotherapy with
metastatic involvement in infantile oral cyclophospamide and IV
neuroblastoma. This is stage IVs adriamycin or vincristine is
disease. If Nmyc amplification is sufficient.
absent, it falls in low-risk category
because of favorable age and carries
A B a very good prognosis.
216 Figures 11.1.17A and B: Neuroblastoma stage

IVs
Neuroblastoma—Bone Marrow Infiltration

Bone marrow showing rosettes of Management of stage IV
abnormal cell infiltrates in patient neuroblastoma with chemotherapy
with neuroblastoma. leads to good early response which
needs to be consolidated with high
dose chemotherapy with stem cell
rescue.
Figure 11.1.18: Bone marrow infiltration with

neuroblastoma cells
Photo Courtesy: Sumeet Gujral, Mumbai

Neuroblastoma—Bony Metastases
Bones and bone marrow are the Prompt initiation of chemotherapy
most common sites of metastases in is advised after diagnosis and
neuroblastoma. X-ray showing bony staging. Local radiotherapy is
metastasis in humerus. advised in painful bony lesion along
with bisphosphonates.
A B
Figures 11.1.19A and B: Bony metastases in
neuroblastoma
Neuroblastoma—Pelvic Neuroblastoma
Calcified mass in the pelvis. Biopsy If non-metastatic, surgical
confirmed neuroblastoma. excision should be followed by
chemotherapy.
Figure 11.1.20: Pelvic neuroblastoma 217

Osteosarcoma of Lower End of Left Femur

A 12 years old boy presented with A carefully planned biopsy to
progressively enlarging swelling of confirm the histology should be
left leg of 3 months duration. followed by a metastatic work-up
X-ray revealed typical “sunburst” or including CT scan of the chest
A “sunray” appearance of the lower and a bone scan. Neoadjuvant
end of left femur with erosion of the chemotherapy allows reduction in
underlying bone. tumor volume along with control
of micrometastases followed by
definitive surgery followed by
adjuvant chemotherapy.
Figures 11.1.21A and B: Osteosarcoma of

lower end of left femur
Osteosarcoma of Upper End of Left Humerus

A 12 years old girl presented with Four cycles of chemotherapy
painful swelling of left shoulder of followed by re-evaluation to assess
4 months duration. X-ray revealed the response of the primary tumor
new bone formation in and around and the lung metastases.
the head of the humerus. Biopsy
confirmed osteosarcoma. CT scan
A of the chest revealed multiple lung
metastases.
Figures 11.1.22A and B: Osteosarcoma of

upper end of left humerus
Retinoblastoma on CT Scan
CT scan showing retinoblastoma For retinoblastoma lesions confined
lesions within the globe and behind to the globe, chemotherapy offers
the globe. the option of saving vision. For
extensive lesions enucleation with
radiotherapy and chemotherapy
can control the disease and save life.
A B
Figures 11.1.23A and B: Retinoblastoma on

218 CT scan
Retinoblastoma with Orbital Implant

Baby with right eye retinoblastoma Orbital implants of various types are
at diagnosis and a year later with available and maybe free-floating,
orbital implant. attached to the muscles or pegged
within the socket.
A B
Figures 11.1.24A and B: Retinoblastoma with

orbital implant
Photo Courtesy: Sajid Qureshi, Mumbai
Retinoblastoma—Advanced Stage

Loss of vision and exophytic Chemotherapy helps in regression
growth mark the late stages of of the tumor but the response is
retinoblastoma. short lived and prognosis is poor.
Figures 11.1.25A and B: Advanced stage

retinoblastoma
Retinoblastoma—Early Stage
Leukocoria or white eye reflex is Chemoreduction using neoadjuvant
the most common presentation of chemotherapy and local ophthalmic
retinoblastoma in its early stage. therapies to eradicate local disease
help to maintain vision and have
A B good prognosis.
Figures 11.1.26A and B: Early stage
retinoblastoma 219
Retinoblastoma—Postenucleation Syndrome
Enucleation is recommended for Prompt insertion of orbital implant
retinoblastoma when the disease can prevent such complications.
is extensive and there is no useful
vision. Enucleation without
prosthesis for cosmesis, results in
poor growth of the orbit and facial
asymmetry.
Figure 11.1.27: Retinoblastoma—

Postenucleation syndrome
Rhabdomyosarcoma after Multiple Attempts at Surgery

A 14 years boy with painful swelling Noncross resistant chemotherapy

of the right arm, biopsy revealed and palliative radiotherapy.
alveolar rhabdomyosarcoma. He
received 4 cycles of chemotherapy
followed by multiple attempts at
surgery.
Figure 11.1.28: Rhabdomyosarcoma after

multiple attempts at surgery
Rhabdomyosarcoma of Chest Wall

A 12 years girl with swelling over Chemotherapy for 9 to 12 weeks
the right anterior chest wall which followed by response evaluation
was excised and has recurred followed by surgery and/or
within four weeks. Review of the radiation therapy, further followed
excision biopsy revealed alveolar by maintenance chemotherapy.
rhabdomyosarcoma. CT scan Prognosis will be guarded in view
A B revealed 9 × 7 cm swelling arising of prior surgical violation and
from the pectoralis major muscle unfavorable histology.
encasing the right subclavian
vessels.
Figures 11.1.29A to C: Alveolar rhabdomyosar-

coma of chest wall
Rhabdomyosarcoma of Left Parotid Region

A 3 years girl with painless swelling Chemotherapy for 9 to 12 weeks
of left parotid region of 4 weeks followed by radiation therapy to
duration. CT scan revealed tumor all involved sites. Intent of therapy
arising from left parotid region is palliative and not curative.
with destruction of the underlying Counseling of the family by
mandible. Biopsy revealed pediatric oncologist and palliative
embryonal rhabdomyosarcoma. care specialist before starting
Metastatic work-up with CT chest, treatment is very essential.
bone scan and bone marrow biopsy
revealed multiple lung and bony
metastases.
Figure 11.1.30: Rhabdomyosarcoma of left
parotid region
Rhabdomyosarcoma of Middle Ear Presenting as Facial Nerve Palsy
A 5 years old girl presented with Metastatic work-up with CT

right lower motor neuron facial scan chest, bone scan, bone

nerve palsy preceded by right ear marrow biopsy and diagnostic
pain of one week duration. CT scan lumbar puncture. Neoadjuvant
revealed mass in the right middle chemotherapy and early start of
ear extending into the mastoid radiotherapy (ideally on day 1)
cavity. Biopsy confirmed embryonal followed by maintenance
rhabdomyosarcoma. This is chemotherapy. Prognosis will
parameningeal site ERMS. depend on CSF involvement.
Figure 11.1.31: Facial nerve palsy as a presentation

of rhabdomyosarcoma of middle ear
Rhabdomyosarcoma—Bone Scan Showing Multiple Bony Metastases

Posterior view showing increased Systemic chemotherapy along
radiotracer uptake is in right with radiotherapy to painful bony
sacroiliac joint, left distal femur and metastases.
left proximal tibia.
Figure 11.1.32: Bone scan showing multiple

bony metastases in rhabdomyosarcoma
Photo Courtesy: Anupama S Borker, Manipal 221
Rhabdomyosarcoma—Lung Metastases
Metastatic lesion from Lung only metastatses respond well to
rhabdomyosarcoma of the middle chemotherapy.
ear. Lung metastases in solid tumors
are generally subpleural in location.
Figure 11.1.33: Lung metastases in

rhabdomyosarcoma
Rhabdomyosarcoma—Orbital
Fleshy bulbous firm mass arising Staging work-up with CT scan of

from lower eyelid, with rapid the chest, bone scan and bone
growth over three weeks. No marrow biopsy to determine
constitutional symptoms. The extent of spread. Treatment with
swelling was minimally tender neoadjuvant chemotherapy
with erythematous overlying followed by response evaluation
skin. Biopsy revealed alveolar and local therapy with surgery
rhabdomyosarcoma. and/or radiotherapy. This
is followed by maintenance
chemotherapy.
Figure 11.1.34: Orbital rhabdomyosarcoma

Rhabdomyosarcoma—Vaginal Botryroid
A 8 months old baby with typical Staging work-up with CT scan of
grape like lesion at the vaginal chest and abdomen, with bone
orifice. Biopsy confirmed it to be scan and bone marrow aspiration
botyroid rhabdomyosarcoma. and biopsy. Chemotherapy causes
shrinkage of the tumor mass
enabling definitive surgery after a
few cycles with good prognosis.
Figure 11.1.35: Vaginal botryroid

rhabdomyosarcoma
222 Photo Courtesy: Purna Kurkure, Mumbai
Sacrococcygeal Teratoma
A 3 months baby was brought Complete surgical excision followed

with swelling over the gluteal by close follow-up.
region progressing since birth. CT
scan confirmed sacrococcygeal
teratoma—type I with normal
alpha-fetoprotein and B-hCG levels.
Figure 11.1.36: Sacrococcygeal teratoma in an

infant
Therapeutics—Hickman Catheter for Leukemia Therapy

A 6 years old with acute myeloid Hickman and Broviac are long-term

leukemia with Hickman catheter in venous access catheters used in
situ for easy and reliable long-term oncology patients for maintaining
venous access. venous access for blood collections
and administration of intravenous
medication.
Figure 11.1.37: Hickman catheter for

leukemia therapy
Therapeutics—Necrotic Ulceration Following Vincristine Extravasation

Certain chemotherapy drugs like Management of vincristine
vincristine, daunorubicin and extravasation: Immediate cessation
doxorubicin are potent vesicants of IV infusion, aspiration of as
and cause severe tissue necrosis and much drug as possible from
ulceration if extravasated. the extravasated site, elevation
of concerned limb, warm
compresses for 1 hour, application
of hydrocortisone 1% cream twice
daily, early surgical consultation of
Figure 11.1.38: Necrotic ulceration following extensive necrosis.
vincristine extravasation
Photo Courtesy: Purna Kurkure, Mumbai 223
Therapeutics—Peripherally Inserted Central Catheters

Peripherally inserted central PICCs are easier to insert and are
catheters (PICC) with infusion less expensive. They offer reliable
device. venous access over a long period
without the risk of extravasation and
thrombophlebitis.
A B
Figures 11.1.39A and B: Peripherally inserted

central catheters (PICC)
Therapeutics—Port-a-Cath
Port-a-Cath: Implantable long- “Port-a-Caths” are useful in patients
term venous access device for with solid tumors for administration
chemotherapy administration. of intravenous chemotherapy. They

do not need frequent flushing and
maintenance at home.
Figures 11.1.40A and B: Port–a-Cath

Wilms’ Tumor
A 2 years boy presented with Neoadjuvant chemotherapy for
painless abdominal distention. CT six weeks with vincristine and
scan revealed large tumor arising actinomycin D results in brisk
from the superior pole of the right response enabling successful
kidney. CT-guided biopsy confirmed nephrectomy, avoiding the risk
Wilms’ tumor. Chest X-ray and of rupture. This is followed by
CT scan were normal confirming adjuvant chemotherapy. The need
non-metastatic disease. for radiotherapy depends on the
surgicopathological stage.
Figure 11.1.41: Wilms’ tumor

224
Atypical Teratoid Rhabdoid Tumor of the Brain

A 2 years old boy presented with Complete tumor resection was
unsteadiness of gait and progressive attempted. Histopathology revealed
weakness of one month duration. atypical teratoid rhabdoid tumor
He had truncal ataxia, hypotonia of the brain. It is a rare tumor
and nystagmus. MRI revealed large with a grave prognosis. Intensive
enhancing mass in the midline in chemotherapy with radiotherapy
the posterior cranial fossa. has improved survival over the last
A B decade.
Figures 11.2.1A and B: Atypical teratoid
rhabdoid tumor of brain
Congenital Fibrosarcoma of the Foot

A 28 days old baby presented with Chemotherapy with vincristine and

painless swelling of the left foot actinomycin D given for 12 weeks
noticed since day 8 of life and led to complete remission and
increasing in size, without any was followed by 8 more weeks of
constitutional symptoms. MRI chemotherapy without the need for
revealed soft tissue mass arising mutilating surgery.
from the deep muscles of the flexor
aspect of the foot. Biopsy confirmed
A B congenital fibrosarcoma.
Figures 11.2.2A and B: Congenital

fibrosarcoma of the foot
Cystic Hygroma
A 11 months old boy with a soft Excision surgery was performed.
swelling over the upper part of Histopathology confirmed cystic
the chest since birth. The swelling hygroma.
was soft, nontender with a positive
transillumination sign.
Figure 11.2.3: Cystic hygroma

225
Desmoid Fibromatosis
A 12 years old girl with firm to hard Biopsy and imaging with MRI scan.
mass on the right side of the back Surgical excision if feasible with
medial to the right scapula, growing wide margins.
slowly over 6 months.
B
Figures 11.2.4A amd B: Desmoid fibromatosis

Hepatoblastoma
A 10 months old girl was brought Neoadjuvant chemotherapy with
with painless distention of the cisplatin and doxorubicin, or
abdomen over four months along cisplatin, vincristine and 5 FU leads
with failure to thrive. CT scan to tumor regression enabling tumor
revealed large tumor arising from resection.
the liver. Alpha-fetoprotein level was
36000 ng/ml. Liver biopsy revealed
hepatoblastoma of mixed type.
A B
Figures 11.2.5A and B: Hepatoblastoma

Leukemia Cutis
A 4 years old girl presented with Initiation of chemotherapy
erythematous painless swelling according to acute lymphoblastic
anterior to the left ear, of 5 weeks leukemia protocol resulted in
duration. Biopsy of left upper clearing of the lesion within 1 week.
cervical lymph node was consistent
with lymphoblastic lymphoma.
Bone marrow aspiration revealed
marrow involvement with 32%
blasts.
Figure 11.2.6: Leukemia cutis
226
Leukemia—Bony Lesion in ALL

A 13 months old girl with painful CT scan showed infiltrating lesion
swelling of the left temporal region arising from temporal bone
of four weeks duration, along without breach of the underlying
with constitutional symptoms of dura. Biopsy revealed infiltration
anorexia, weakness and weight loss. by lymphoblasts. Bone marrow
aspiration showed marrow
replacement by lymphoblasts
A confirming the diagnosis of acute
lymphoblastic leukemia.
Figures 11.2.7A and B: Bony lesion in ALL

Leukemia—Chloroma

A rapidly growing swelling of the left CT scan showed extraocular
eye over 3 weeks, with preservation tumor arising from eyelid with
of vision till a week prior to intact eyeball. Biopsy revealed
presentation. No constitutional extramedullary myeloid cell
symptoms. tumor (chloroma). Bone marrow
aspiration and biopsy did not
reveal any evidence of leukemia.
Treatment similar to treatment of
acute myeloid leukemia.
Figure 11.2.8: Chloroma

Lymphoma—Subcutaneous Nodules of Anaplastic Large Cell Lymphoma

A 15 years girl presented with Six to eight cycles of multiagent
multiple painful swellings over chemotherapy with intrathecal
the back, arms and legs of 2 weeks chemotherapy.
duration with constitutional features
of fever, anorexia and weight loss.
CT scan revealed multiple enlarged
retroperitoneal and mesenteric
lymph nodes. Biopsy revealed
anaplastic large cell lymphoma.
Figure 11.2.9: Subcutaneous nodules of

anaplastic large cell lymphoma
227
Lymphoma—Cutaneous T-Cell Lymphoma

A 10 years old girl presented with Localized lesions can be treated
fever and multiple erythematous with topical corticosteroids and
lesions over the abdomen and chest. phototherapy, whereas systemic
Skin biopsy revealed cutaneous therapy is needed for generalized
T-cell lymphoma. lesions. This patient was treated
with 6 cycles of chemotherapy with
CHOP regimen (cyclophosphamide,
doxorubicin, vincristine and
prednisone).
Figure 11.2.10: Cutaneous T-cell lymphoma
Photo Courtesy: Leni Mathew, Vellore
Lymphoma—Tonsillar Lymphoma
A 11 years old girl presented with Intense multiagent chemotherapy
2 weeks history of odynophagia. for 6–8 cycles is the treatment.

A biopsy of the mass on the In case of good early response,
left tonsillar fossa revealed radiation therapy is not needed.
non-Hodgkin’s lymphoma—diffuse
large B-cell type. Staging work-up
did not reveal evidence of disease
A elsewhere.
B
Figures 11.2.11A and B: Tonsillar lymphoma
Rhabdomyosarcoma of Right Cheek in a Patient with Microcephaly

A 9 months old infant with Staging work-up followed by
microcephaly presented with neoadjuvant chemotherapy.
painless swelling of right side
of the face of four months
duration. Biopsy revealed alveolar
rhabdomyosarcoma.
Figure 11.2.12: Rhabdomyosarcoma of right

cheek in an infant with microcephaly
Thyroid Carcinoma in an Adolescent Female

A 17 years old girl presented with Total thyroidectomy followed by
swelling in the region of the thyroid I131 scan postsurgery to rule out
gland of four months duration. Biopsy residual or metastatic disease.
revealed follicular thyroid carcinoma. If there is residual/metastatic
disease, treatment with mega dose
I131 therapy. Lifelong thyroxine
supplementation and monitoring is
essential part of management.
Figure 11.2.13: Thyroid carcinoma in

adolescent female
11.3 ONCOLOGIC EMERGENCIES

Acute Raised Intracranial Pressure
A 13 years old boy presented with right Emergency tumor excision with

hemiparesis, right ptosis and diplopia VP shunt insertion was performed.
of 2 days duration with history of Histopathology revealed mixed
polyphagia, polyuria and eneuresis germ cell tumor. Adjuvant
B over the preceding 3 months. CT scan radiotherapy with chemotherapy
revealed mass in suprasellar and sellar leads to very good outcomes.
region with calcification and necrosis
A
with moderate hydrocephalous and
periventricular lucencies.
Figures 11.3.1A to C: Acute raised intracranial

pressure
Massive Pleural Effusion

A 13 years girl presented with Chemotherapy with 4–6 cycles of
left-sided chest pain and cough vincristine, cyclophosphamide,
of 4 days duration. Emergency doxorubicin alternating with
thoracocentesis revealed malignant ifosphamide and etoposide
cells. CT scan revealed large pleural followed by response evaluation
effusion with large pleural-based and later followed by local therapy.
masses, biopsy of which confirmed
rhabdomyosarcoma.
Figure 11.3.2: Massive pleural effusion

Photo Courtesy: Anupama S Borker, Manipal 229
Mediastinal Lymphadenopathy
Mediastinal mass in a 11 years old Complete blood count with
boy who presented with cough peripheral smear examination and
and breathlessness of four days bone marrow aspiration to be done
duration. without sedation in semi-upright
position to rule out leukemia.
Mediastinal mass biopsy to be
attempted if diagnosis still not
obtained.
Figure 11.3.3: Mediastinal lymphadenopathy

11.4 SYNDROMES
Down’s Syndrome—AML M7
Down’s syndrome predisposes to Chemotherapy for AML, with dose
leukemia—acute myeloid leukemia reduction as these patients are very
AML M7 being common. sensitive to chemotherapy.
A B
Figures 11.4.1A and B: Down’s syndrome—

AML M7
Sumeet Gujral, Mumbai
Neurofibromatosis Type I with Malignant Peripheral Nerve Sheath Tumor

A 10 years old boy with Malignant peripheral nerve sheath
neurofibromatosis type I presented tumors are treated with surgery and
with a painful swelling on radiotherapy. Chemotherapy has
back growing over six months. limited role.
Histopathology of the excised
swelling revealed malignant
peripheral nerve sheath tumor.
Tumor recurred within weeks of
excision.
Figure 11.4.2: Neurofibromatosis type I with

malignant peripheral nerve sheath tumor
230
Section 12
Endocrinology
Section Editors
Vaman Khadilkar, PSN Menon
Photo Courtesy
Anju Virmani, Bhanukiran Bhakhri, Sangeeta Yadav,
Vaishakhi Rustagi, Vaman Khadilkar, Vandana Jain

12.3 Endocrine Emergencies
12.4 Syndromes
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Acanthosis
Obesity leads to a myriad of ere is no specific treatment
secondary effects such as for acanthosis. Weight loss will
insulin resistance seen here as reduce insulin resistance and thus
acanthosis. is is a harbinger acanthosis. Insulin resistance needs
for type 2 diabetes which is seen to be proved by fasting glucose
at younger and younger ages and insulin values. HOMA index
now. Dyslipidemia is commonly is calculated as (Glucose in mg x
associated with insulin resistance. insulin in iu/ml)/405. If HOMA is
higher than 2.5 before or 4.5 after
Figure 12.1.1: Acanthosis puberty, Metformin is indicated.
Photo Courtesy: Vaman Khadilkar, Pune
Addison’s Disease

Adrenal failure can be caused by a Addison disease can present with
variety of congenital and acquired addisonian crisis which is a medical
causes. Acquired causes are auto- emergency. e management of
immune adrenal damage, isolated acute crisis which presents with
or as part of polyendocrinopathy, hypoglycemia, hyponatremia
tuberculosis , adrenoleukodystrophy and hyperkalemia is intravenous
and AAA syndrome. Congenital hydrocortisone in a dose of 2.5 mg/
adrenal hypoplasia is caused by kg/dose 6 to 8 hourly, followed
a variety of genetic defects such by oral hydrocortisone and
as DAX1 which is associated with fludrocortisones in a dose of 10 to 15
Figure 12.1.2: Addison’s disease—Tongue and hypogonadotropic hypogonadism. mg/m2 per day.
lip pigmentation
Atypical Genitalia, Both Gonads Palpable, Androgen Insensitivity Syndrome

Atypical genitalia where both Treatment depends upon the cause.
gonads are palpable usually come Response to androgen therapy in
under the category of 46 XY DSD. the first few weeks helps in gender
ere is usually a disorder of assignment. In partial androgen
testosterone synthesis or action insensitivity and 5 alpha reductase
such as androgen insensitivity deficiency there is response to
syndrome. treatment in the form of increased
phallic growth.
Figure 12.1.3: Atypical genitalia, androgen

insensitivity syndrome
Photo Courtesy: Bhanukiran Bhakhri, New Delhi
233
Atypical Genitalia, Clitoral Hypertrophy—No Palpable Gonads

Atypical genitalia where clitoral Atypical genitalia is a pediatric
hypertrophy is seen but no gonads psychosocial emergency.
are palpable is usually seen in 46 XX Management is always multi-
DSD. e most common cause of disciplinary. Patients with DSD
this condition is congenital adrenal should be done in centers where
hyperplasia. teams are trained to look after such
cases.
Figure 12.1.4: Clitoral hypertrophy no palpable

gonads
Atypical Genitalia—Very Ambiguous—Penoscrotal Transposition

Atypical genitalia can be sometimes Such severe malformations may
extremely ambiguous. As seen not always be amenable to medical
in this case there is penoscrotal and surgical therapy. In severe
transposition. Such severe syndromic cases with other severe
abnormalities are often associated systemic abnormalities fatalities are
with other systemic abnormalities. common and holistic approach to
management is needed.
Figure 12.1.5: Atypical genitalia,

penoscrotal transposition
Buried Penis
e concealed buried penis is a Treatment of obesity in the form of
normally developed penis that is dietary adjustments and physical
camouflaged by the suprapubic exercise is needed. Surgical
fat pad. is is usually a result of correction is rarely indicated for
obesity or rarely may be congenital cosmetic reasons or if there is a
or iatrogenic after circumcision. functional abnormality with a
splayed stream.
Figure 12.1.6: Buried Penis

234
Congenital Adrenal Hyperplasia

Most common cause of 46 XX Oral replacement with
DSD. Affected females are easily Hydrocortisone in a dose of 10
identified due to atypical genitalia to 15mg/m2/day in 3 divided
at birth. Males often remain doses. In the salt wasting variety
undiagnosed for first few years and fludrocortisones is added in a dose
may present with pseudoprecocious of 100 mg/m2/day as a daily dose.
puberty. e salt wasting variety e dose of fludrocortisones is
manifests with addisonian crisis higher in the first year of life.
manifested by low Na, High K and
Figure 12.1.7: Congenital adrenal hyperplasia. hypoglycemia, vomiting and failure
Hyperpigmented nipples, umbilicus and to thrive. 21 Hydroxylase deficiency
genitals, failure to thrive is the most common cause.
Craniopharyngioma
Craniopharyngioma accounts ere is controversy regarding

for about 10% of brain tumors in relative roles of radiotherapy and
childhood. It generally has a solid surgery. Pre and postoperative
and cystic component. ere is hormonal replacement is important
significant morbidity including in the management. Postoperative
hormonal pathologies. Common DI should be anticipated and can be
A B
endocrinopathies are growth challenging.
Figures 12.1.8A and B: (A) Craniopharyngioma
hormone deficiency, TSH, ACTH
in14-year-old girl; (B) Craniopharyngioma
Photo Courtesy: Vaman Khadilkar, Pune deficiency and DI.
Cushing—Iatrogenic
Use of corticosteroids for conditions Careful history gives important
such as Nephrotic syndrome or clues to the diagnosis. Once the
juvenile chronic arthritis causes steroid is tapered off, signs and
iatrogenic Cushing. is is reversible symptoms slowly reduce but may
on stopping steroids. Unjustified use persist for many months.
of steroid drops and tablets in our
country is not an uncommon cause
of this condition.
Figure 12.1.9: Latrogenic cushing

235
Cushing Disease—Pituitary Microadenoma

e term refers to Cushing caused If pituitary microadenoma can
by pituitary-hypothalamic disorder be located transnasal surgery is
of excess ACTH secretion leading to the treatment of choice. Medical
cortisol excess. Dusky complexion, treatment by cabergoline is not very
short stature, proximal myopathy, effective.
central obesity, moon face and
hypertension are common.
A B
Figures 12.1.10A and B: (A) Cushing disease;

(B) Pituitary microadenoma
DI—MRI Showing Absent Postpituitary Gland in Central Diabetes Insipidus

Central diabetes insipidus is caused Central diabetes is treated by long

by lack of antidiuretic hormone acting vasopressin analogue dDAVP
secreted from the posterior pituitary (Desmopressin) either as nasal
gland. is leads to pathological spray or oral tablets at 8 to 12 hourly
polyuria (>2L/m2/24 hours). interval.
Normally posterior pituitary is seen
as a bright spot on T1 weighted
images. Note the absence of
posterior pituitary bright spot in the
Figure 12.1.11: Absent bright postpituitary
picture.
spot in central diabetes insipidus
Diabetes—Microvascular Complications Small Joint Involvement

Poor glycemic control leads to the Improved diabetes control with
syndrome of limited joint mobility. home glucose monitoring, intensive
Note the stiffness of small joints insulin regime, proper nutrition
of the hands shown in the picture. and exercise is necessary to prevent
is is frequently associated with further complications.
the early development of diabetic
microvascular complications, such
as retinopathy and nephropathy.
Figure 12.1.12: Syndrome of limited joint

mobility in type 1 diabetes
Photo Courtesy: Vaman Khadilkar
Vaishakhi Rustagi, Pune
236
Goiter—Autoimmune
Most commonly caused by auto- If hypothyroid then Levothyroxine.
immune thyroiditis. More common If thyroid function tests are
in girls. Uniform bosselated normal but the goiter is large,
swelling, firm in consistency. Auto- Levothyroxine can be used for 6
immune thyroid disease is seen months to reduce the size of the
families with vertical transmission. goiter.
yroid function tests and anti- If antibody positive but euthyroid
thyroid antibodies must be checked then annual assessment of thyroid
before dismissing goiter as puberty function is suggested.
goiter.
Figure 12.1.13: Goiter
Goiter—Dyshormonogenesis
Goiter seen within same sibship is Levothyroxine in the dose of 100

usually due to dyshormonogenesis. mcg per meter sq. of body surface
ese goiters are moderate in area per day is recommended.
size and softer than seen in auto-
immune variety. If these patients are
detected by neonatal screening and
treated from early age, goiter may
not develop. Perchlorate discharge
test is diagnostic. Hearing should be
checked.
Figure 12.1.14: Goiter—Dyshormonogenesis
Growth Hormone De�iciency

Typical features are severe short Growth hormone stimulation
stature, immature look, mid facial test with insulin, clonidine, and
hypoplasia, micropenis, delayed arginine in specialized centers is
puberty and central obesity. recommended. A combination
of IGF-1, IGF-BP3, Stimulated
GH value and MRI improves the
specificity of diagnostic tests.
Growth hormone therapy from
diagnosis till adult stature is
reached. e dose used is 20 to 30
mcg/kg/day.
Figure 12.1.15: Growth hormone deficiency

237
Gynecomastia—Klinefelter Syndrome
Approximately 1/500 newborn Replacement therapy with a long-
males has a 47,XXY chromosome acting testosterone preparation
complement. Clinical features are depends on the age of the patient.
tall stature, mental sub normality, It should begin at 11 to 12 years of
small testes and gynecomastia. age. Gynecomastia usually requires
surgical treatment.
Figure 12.1.16: Gynecomastia in klinefelter

syndrome
Gynecomastia—Puberty
Physiologic pubertal gynecomastia Treatment usually consists
may involve only one breast, and of reassuring the boy of the
it is not unusual for both breasts to physiologic and transient nature
enlarge at disproportionate rates of the phenomenon. When the
or at different times. Tenderness of enlargement is striking and
the breast is common. Spontaneous persistent and causes serious
regression may occur within a few emotional treatment can be given.
months; it rarely persists longer Medical therapies consists of use
than 2 years. of aromatase inhibitors, Danazol
and dihydrotestosterone local
application. In resistant cases
surgery is necessary.
Figure 12.1.17: Puberty gynecomastia

Hemihypertrophy—Beckwith-Wiedemann Syndrome
Hemihypertrophy is associated Management of hypoglycemia and
with Beckwith-Wiedemann screening for the development of
syndrome (BWS) or sometimes renal neoplasm is the main goal of
with vascular malformations of that therapy.
specific body part. BWS consists of
hyperinsulinism, umbilical hernia,
renal tumors and overgrowth.
Figure 12.1.18: Hemihypertrophy

238 Photo Courtesy: Vaman Khadilkar, Pune
Hypothyroidism—Congenital
Clinical signs such as large tongue, Levothyroxine in the dose of 10 to 12
hypotonia, delayed milestone, mcg per KG per day is needed in
constipation, dry skin, lid edema, the first year. After 1st year it can be
etc. are late to appear. By the time reduced to 100 mcg per meter square
they are clinically apparent it is too per day.
late as brain damage has already Universal neonatal thyroid screening
set in. With every week’s delay in is an absolute must to prevent this
diagnosis 5 to 10 points in the IQ are common cause of preventable mental
lost. retardation.
Figure 12.1.19: Untreated congenital
hypothyroidism
Hypothyroidism—Juvenile
Short stature, laziness, constipation, Levothyroxine in a dose of 2 to 5 mcg

inactivity, facial edema, muscular per KG per day early morning on
pseudohypertrophy as seen empty stomach is recommended for
here, macro-orchidia in boys are best absorption. Monitoring is done
common-features. Goiter is not by 3 to 6 monthly thyroid function
a consistent feature. Academic tests and growth assessment.
performance is usually good and In long standing undiagnosed
deteriorates on treatment. hypothyroid children final height
attainment is often less than the
target height.
Figure 12.1.20: Juvenile hypothyroidism

Lipohypertrophy due to Insulin

Lipohypertrophy is more common Changing injections sites is the
with human insulin injections treatment for this condition. Patient
especially when rotation of sites must be educated in injection
is not done. Insulin absorption technique and site rotation to avoid
becomes erratic from these areas this common problem.
and hence glycemic control suffers.
A B
Figures 12.1.21A and B: (A) Insulin induced
Lipohypertrophy; (B) Insulin induced
Lipohypertrophy
Photo Courtesy: Anju Virmani,
Sangeeta Yadav, New Delhi
239
Mauriac Syndrome
Uncontrolled Type 1 diabetes leads Improved glycemic control is
to short stature, hepatomegaly with needed to prevent and treat this
protruding abdomen, proximal complication of diabetes. With
muscle weakness. is is seen less improved glycemic control majority
commonly now due to availability of of clinical features improve.
better insulin preparations.
Figure 12.1.22: Mauriac syndrome

Micropenis
Micropenis is defined as normally e treatment depends upon the

formed penis that is at least 2.5 z cause and response to androgens is
scores below the mean in length. In variable.
a full term newborn the diagnosis of
micropenis is made if the stretched
penile length is below 2 cm.
Micropenis is a known association
of many endocrine disorders such
as growth hormone deficiency,
hypogonadotropic hypogonadism,
Figure 12.1.23: Micropenis Prader-Willi syndrome and
Photo Courtesy: Vaman Khadilkar, Pune Lawrence-Moon-Biedl syndrome.
Mucopolysaccharidoses
Mucopolysaccharidoses are Bone marrow transplantation
group of inherited, progressive or cord blood transplantation
diseases caused by mutations results in significant clinical
of genes coding for lysosomal improvement in Type I, II, and VI.
enzymes needed to degrade Genetic counseling is necessary
glycosaminoglycans. Short stature for prevention of further abnormal
is almost universal with a variety babies. For the affected supportive
of other systemic involvement. e therapy remains the mainstay of
skeletal form resemble skeletal management.
dysplasia.
Figure 12.1.24: Mucopolysaccharidoses

Obesity—Simple
ere is an alarming increase in As more than 97% of all obesity is
the incidence of obesity in urban nonhormonal, management mainly
India in the last few decades. consists of lifestyle and behavioral
is is caused by excessive non- modifications, nutritional
protein calorie intake and relative intervention programs, reducing
inactivity. Overweight and obesity screen time and increasing
is diagnosed by calculating body physical activity. ere is no role
mass index (BMI= Wt in kg/Height of pharmacotherapy in simple
in M2). Cutoff values for BMI are nutritional pediatric obesity.
age and sex specific and hence
BMI charts should be used for early
diagnosis of overweight in children.
Figure 12.1.25: Simple obesity

Orchidometer
Boys’ sexual maturity is assessed Note that the first 3 beads that
by measuring testicular volume. indicate 1,2 and 3 ml volume are
Testicular volume is assessed using prepubertal. Puberty starts at
orchidometer. 4 ml and then there is progressive
increase in the testicular volume till
20 to 25 ml in the adult male.
Figure 12.1.26: Prader Orchidometer

PHHI—Hairy Pinna
Hyperinsulinism is the most Treatment consists of

common cause of persistent glucose infusions, diazoxide,
hypoglycemia in early hydrochlorothiazide, octreotide and
neonatal period and infancy. partial pancreas removal by surgery.
Hyperinsulinemic babies
may be macrosomic at birth,
often have hairy pinna and
persistent hypoglycemia. Insulin
concentrations are inappropriately
Figure 12.1.27: Hairy pinna in PHHI elevated for the blood glucose level
Photo Courtesy: Vaman Khadilkar, Pune often above 5 mIU/ml. 241
Precocious Puberty—Central with Hypothalamic Hamartoma

True precocious puberty occurs True precocious puberty is treated
when there is activation of with Gonadotropin releasing
hypothalamo-pituitary-gonadal analog (GnRha). ese analogs
axis. Central precocious puberty work by down-regulation of the
is much more common in girls. In hypothalamic receptors. Early
boys, central precocious puberty therapy with GnRha improves the
is often associated with serious final height and postpones menses.
neurological disorder such as SOL.
Gonadotropin releasing hormone
stimulation test differentiates this
from peripheral precocity.
A B
Figures 12.1.28A and B: (A) Central precocious

puberty; (B) Central precocious puberty caused
by hypothalamic hamartoma
Pseudoprecocious Puberty and Hypertension in a Boy—CAH

In contrast to the previous Depends upon the cause of
condition this is caused by the precocity. In CAH treatment is
activation of the peripheral tissues with oral hydrocortisone and
such as adrenals or gonads. is fludrocortisones. In adrenal,
is gonadotropin independent ovarian and testicular tumors
puberty and gonadotropins are surgical removal along with
suppressed. Pseudoprecocious chemotherapy may be needed.
puberty can be iso or heterosexual.
Congenital adrenal hyperplasia
(CAH) is the commonest cause of
pseudoprecocious puberty.
Figure 12.1.29: Pseudoprecocious puberty

(CAH)
Renal Tubular Acidosis (RTA)—Failure to Thrive

e failure to thrive and costal Mainstay of therapy is bicarbonate
beading due to rickets. Renal replacement. Proximal RTA requires
tubular acidosis (RTA) is a disorder much higher dose than distal RTA.
characterized by a normal anion Other medications include thiazide
gap metabolic acidosis. is can be diuretics and measures to control
due to either impaired bicarbonate hyperkalemia in the hyperkalemic
reabsorption or impaired urinary variety.
Figure 12.1.30: Renal tubular acidosis hydrogen ion excretion. Proximal,
Photo Courtesy: Vaman Khadilkar, Pune distal, hyperkalemic and mixed
242 forms exist.
Skeletal Dysplasia
Skeletal dysplasias are genetically Management is mainly restricted
and clinically heterogeneous to correction of orthopedic
group of disorders of skeletal deformities. Improvement in the
development and growth. e most final height is achieved by limb
common being Achondroplasia. lengthening surgical procedures.
Disproportionate growth is the Clinical trials for the use of growth
hallmark of these disorders. e hormone to treat skeletal dysplasia
diagnosis is made by radiographic are underway but the results are
skeletal survey. equivocal and growth hormone is
not a standard acceptable form of
therapy.
Figure 12.1.31: Skeletal dysplasia


Stadiometer and Infantometer
Stadiometer is used to accurately For infants below the age of 2 years

measure height up to 1 mm length is used instead of height. Two
accuracy. Accurate height persons are needed to accurately
B
measurement and growth measure length on an Infantometer.
monitoring using appropriate
growth charts remains an invaluable
tool in the assessment of pediatric
A and pediatric endocrine disorders.
Figures 12.1.32A and B: (A) Stadiometer;
(B) Infantometer
Stretched Penile Length—Method

Stretched penile length is measured Norms of penile length are
as shown with the help of a wooden available. In a neonate at term
spatula. Penis is rested on the average is 2.5 cm and length less
spatula. Spatula is then gently than 2 cm is micropenis.
pressed inside until it touches the
pubic symphysis. Tip of the penis
(excluding the prepucial skin
length) is marked and measured
against a scale.
Figure 12.1.33: Stretched penile length

243
Thelarche—Benign
Isolated breast development is often Only reassurance is needed. No
seen in the first two years of life. specific treatment is necessary
ere are no other signs of puberty but differentiation from atypical
such as axillary of pubic hair thelarche or true precocious
development or estrogenization of puberty is necessary.
the genitals. Bone age is not much
advanced and condition naturally
resolves within 2 to 3 years.
Figure 12.1.34: Benign thelarche

Vitamin D Resistant Rickets (VDRR)

Hypophosphatemic rickets is the Treatment consists of oral
most common cause of vitamin D phosphates in a dose of 1 to 3
resistant rickets. is is caused by gm of elemental phosphorus in
the defective PHEX gene. Defects in 4 to 5 divided doses. Calcitriol is
the PHEX gene leads to increased administered in a dose of
phosphate excretion from the 30 to 70 ng/kd/day in 2 divided
proximal renal tubules causing doses.
hypophosphatemia. ere is also
decreased production of 1-25 D3.
Figure 12.1.35: Vitamin D resistant rickets

244
2007 Growth Charts—Af�luent Indian Boys Stature and Weight
Figure 12.1.36: Affluent Indian Boys Height and Weight charts 2007
Reference: Khadilkar VV, Khadilkar AV, Cole TJ, Sayyad MG. Crosssectional growth curves for height, weight and body mass index for affluent
Indian children, 2007. Indian Pediatr. 2009;46(6):477-89.
Khadilkar VV, Khadilkar AV, Chiplonkar SA. Growth Performance of Affluent Indian Preschool Children: A Comparison with the New WHO
Growth Standard. Indian Pediatr. 2010;47(10):869-72. 245
2007 Growth Charts—Af�luent Indian Girls Stature and Weight

Figure 12.1.37: Affluent Indian Girls Height and Weight charts 2007
Indian children, 2007. Indian Pediatr. 2009;46(6):477-89.
246 Growth Standard. Indian Pediatr. 2010;47(10):869-72.
2007 Growth Charts—Af�luent Indian Boys BMI
Figure 12.1.38: Affluent Indian Boys BMI charts 2007

Indian children, 2007.. Indian Pediatr. 2009;46(6):477-89.
Growth Standard. Indian Pediatr. 2010;47(10):869-72. 247
2007 Growth Charts—Af�luent Indian Girls BMI

Figure 12.1.39: Affluent Indian Girls BMI charts 2007

Reference: Khadilkar VV, Khadilkar AV, Cole TJ, Sayyad MG. Cross sectional growth curves for height, weight and body mass index for affluent
Indian children, 2007. Indian Pediatr. 2009;46(6):477-89
Growth Standard. Indian Pediatr. 2010;47(10):869-72
248
Adrenal Hypoplasia Congenita

Adrenal hypoplasia congenita can Glucocorticoid and
be caused by many genetic defects mineralocorticoid replacement
and presents with adrenal failure therapy is needed. At puberty
in the neonatal period or in later sex steroid replacement may be
childhood if the onset is insidious. needed in DAX1 defect to treat
In case of DAX1 gene defect hypogonadotropic hypogonadism.
hypogonadotropic hypogonadism is
associated.
Figure 12.2.1: Adrenal hypoplasia congenita

Cushing’s Syndrome—Adrenal Tumor

Cushing’s syndrome in infancy Biochemical tests show increased
is usually caused by adrenal cortisol production which is
adenoma. Clinical feature consists not suppressed with low dose
of obesity, growth failure, moon dexamethasone, androgen excess
face, hypertension, hyperglycemia, in the form of high testosterone.
buffalo hump and sometimes Localization of adrenal tumor is
androgen excess signs such as best done by CT scan and not by
clitoral hypertrophy and pubic hair ultrasound. Removal of the mass
development. is the treatment which results in
reversal of most features.
Figure 12.2.2: Adrenal tumor

Photo Courtesy: Vandana Jain, New Delhi
Graves’ Disease
Hyperthyroidism is most commonly Graves’ is treated with beta blockers
caused by Graves’ disease in to control adrenergic symptoms
childhood. is is an autoimmune and antithyroid medications such
disorder caused by gain-of-function as carbimazole, methimazole and
mutation of the TSH receptor. propylthiouracil (PTU). In resistant
Clinical features include goiter, cases radio-iodine ablation or
weight loss, clumsiness, tachycardia, surgery is necessary.
exophthalmos and increased
appetite.
Figure 12.2.3: Graves’ Disease

Photo Courtesy: Vaman Khadilkar, Pune 249
Hypoparathyroidism Causing Carpopedal Spasm

Hypoparathyroidism leads to Immediate management of
hypocalcemic tetany in older hypocalcemia is by calcium infusion
children and convulsions in babies given IV. Hypoparathyroidism is
and infants. Low total and ionic treated by 1 to 25 dihydroxy D3
calcium, elevated phosphorus along in the initial dose of is 0.25 μg/24
with low parathyroid hormone are hours. e maintenance dosage
diagnostic. Hypoparathyroidism ranges from 0.01 to 0.10 μg/kg/24
is caused by a variety of hours to a maximum of 1 to 2 μg/24
causes ranging from genetic to hours in 2 to 3 divided doses.
autoimmune destruction.
Figure 12.2.4: Hypoparathyroidism causing
Carpopedal spasm
Hypothyroidism Causing Pituitary Mass

Chronic hypothyroidism leads ere is no need for surgery in

to hyperplasia of the pituitary these children. Replacement with
thyrotrophs. is is seen as a levothyroxine leads to complete
pituitary mass which may be disappearance of the mass within
A B inadvertently operated. few months of therapy.
Figures 12.2.5A and B: (A) Pituitary mass-
Hypothyroidism before treatment; (B) Pituitary
mass has disappeared after treatment of
hypothyroidism
Langer Syndrome
Langer syndrome is caused by Short stature caused by SHOX gene
homozygous mutations of the defect is a now a licensed indication
SHOX gene whereas heterozygous for growth hormone therapy.
mutations cause Leri-Weil
dyschondrosteosis. ere is severe
mesomelic dwarfism, bowing of
the radius and ulna and Madelung
deformity. Milder form of SHOX
gene defect cause idiopathic short
stature.
Figure 12.2.6: Langer syndrome

Langerhan’s Cell Histiocytosis (LCH) Causing DI

Pituitary-hypothalamic involvement Multisystem disease requires
is not uncommon in histiocytosis. chemotherapy and has variable
Note the diffuse enlargement of the prognosis. Diabetes insipidus is
pituitary stalk in the picture. Growth treated with nasal or oral dDAVP.
retardation and diabetes insipidus
are common in pituitary disease
caused by LCH.
Figure 12.2.7: LCH, MRI showing pituitary

stalk involvement
Macro-Orchidia in Hypothyroidism
Long-standing untreated Replacement therapy with

hypothyroidism leads to macro- levothyroxine leads to reversal of
orchidia without any other signs macro-orchidia, other features
of puberty. is is caused by very of hypothyroidism and restores
high level of TSH which causes growth.
“specificity spillover” leading
to FSH like action without LH
activation that leads to incomplete
form of gonadotropin dependent
precocious puberty.
Figure 12.2.8: Macro-orchidia in
hypothyroidism
Nonclassical Congenital Adrenal Hyperplasia (CAH)

Nonclassical congenital adrenal Treatment consist of glucorticoid
hyperplasia usually does not replacement in a dose of 10 mg/
manifest with atypical genitalia at m2/24 hours in 3 divided doses.
birth. is form of CAH presents Asymptomatic individuals do not
with Precocious adrenarche, need treatment.
menstrual irregularity, hirsutism,
acne, and later infertility. However,
many males and females may be
completely asymptomatic.
Figure 12.2.9: Nonclassical CAH

251
Peripheral Pseudoprecocious Puberty

Gonadotropin independent is condition is very difficult
precocious puberty is caused by to treat. Various approaches
peripheral activation of gonads in such as combination of
this case testes. Also note the fibrous medroxyprogesterone, anti-
dysplasia of the femur bone. is is androgens and aromatase inhibitors
seen in McCune Albright syndrome. have been used with limited
e disorder is characterized by success.
autonomous hyperfunction of
Figure 12.2.10: McCune Albright with
many glands caused by a missense
precocious puberty mutation in the gene encoding the
Photo Courtesy: Vaman Khadilkar, Pune α-subunit of GS.
Polycystic Ovary Syndrome (PCOS)

PCOS is a condition that consists Management consists of weight loss
of hyperandrogenism associated in obese girls. Other medications
with chronic anovulation with or are used to control symptoms

without polycystic ovaries. is and consists of antiandrogens,
evolves through adolescent years metformin in insulin resistant
A B
and manifests with menstrual cases and oral contraceptive pills to
Figures 12.2.11A and B: (A) PCOS with
irregularity, hirsutism and later regularize menses and increase sex
hirsutism; (B) Classical polycystic ovary on
ultrasound infertility. Obesity and insulin hormone binding globulin.
Photo Courtesy: Vaman Khadilkar, Pune resistance are often associated.
Prolactinoma—Disappearing with Carbergoline Treatment

Prolactinoma is usually seen in Surgery is very rarely needed for
adolescents and manifests with prolactinoma and mass shrinks
galactorrhea. Prolactin levels are or disappears on treatment with
very high. e tumor is usually seen bromocriptin or cabergoline.
on MRI as shown which shrinks or
disappears as shown in the picture.
Figures 12.2.12A and B: (A) Prolactinoma

before; (B) Prolactinoma after cabergoline
treatment
Pseudoprecocious Puberty Caused by Hypothyroidism

Hypothyroidism can cause Replacement therapy with
precocious as well as delayed levothyroxine usually leads to
puberty. Precocious puberty reversal of all clinical features and
is seen as thelarche or rarely restores growth.
menarche but axillary or pubic hair
development usually not seen. High
prolactin values associated with
hypothyroidism also lead to breast
development. Large ovarian cysts
are seen in long standing untreated
hypothyroid girls.
Figure 12.2.13: Pseudoprecocious puberty—

hypothyroidism

Thyroglossal Cyst
yroglossal cysts are usually seen If the child is hypothyroid,
in the midline of the neck and replacement with Levothyroxine is
may extend up to the base of the warranted which may reduce the
tongue. e swelling moves with size of the cystic swelling. In many
swallowing. Hypothyroidism may children with thyroglossal cyst this
or may not be associated. ere is may be the only functioning thyroid
often functioning thyroid tissue in tissue and hence it should not be
these cysts. removed unless infected or causing
significant acute compression.
Figure 12.2.14: yroglossal cyst

12.3 ENDOCRINE EMERGENCIES

Congenial Adrenal Hyperplasia (CAH) Salt Wasting Crisis
Congenital adrenal hyperplasia of Correction of hyponatremia and
the salt wasting variety presents dehydration, replacement with
with Addisonian crisis after the hydrocortisone in a dose of 100
1st week of life. In a female infant mg /m2/day in 3 divided doses as
it presents with atypical genitalia injections and later as 10 to 15 mg/
whereas in a male it is often missed. m2/day in 3 divided doses orally.
Hyperpigmentation of the genitals, Mineralocorticoid therapy is in the
nipple and axilla is typical. dose of 100 to 300 mcg/day in the
initial period. is is later reduced
to 100 mcg/m2/day.
Figure 12.3.1: Salt wasting CAH
Photo Courtesy: Vaman Khadilkar, Pune 253
Disorder of Sexual Development (DSD)

Disorder of sexual development is a Management of DSD requires
psychosocial emergency that arises team approach. It is very important
in the delivery room. A common for the caring staff to be gentle,
condition that presents as DSD and understanding, supportive
also comes with medical emergency and communicative with the
in the first few days of life is parents and the family. Team
congenital adrenal hyperplasia. Salt consists of gynecologist, pediatric
wasting and hypoglycemic crisis endocrinologist, psychologist,
need to be carefully watched for. social worker, pediatric surgeon and
nursing support staff.
Figure 12.3.2: DSD
Persistent Hyperinsulinemic Hypoglycemia of Newborn

Hypoglycemia in the neonatal is conditions requires a

period is an emergency. Persistent combination of therapy in the form
neonatal hypoglycemia requiring of Diazoxide, Hydrocholorothiazide,
very high glucose infusion rate Octreotide, Corticosteroids and
(> 12 mg/kg/min) is usually caused in resistant cases removal of the
by persistent hyperinsulinemic pancreas.
hypoglycemia of the newborn
(PHHI) also known as insulin
dysregulation syndrome.
Figure 12.3.3: PHHI with hairy pinna
12.4 SYNDROMES
Laron Dwar�ism—Growth Hormone Insensitivity Syndrome
is condition clinically resembles is condition does not respond
growth hormone deficiency with to growth hormone therapy. IGF-1
profound short stature, immature therapy is still in the experimental
look, mid facial hypoplasia, stage and is currently not available
micropenis, delayed puberty and in India.
central obesity. However, in this
condition there is growth hormone
insensitivity with high basal and
high stimulated growth hormone
values. IGF-1 is low.
Figure 12.4.1: Laron dwarfism
254
Lawrence-Moon-Biedl (LMB) Syndrome

Features of this syndrome include, ere is no specific treatment for this
polydyctyly, obesity, hypogonadism condition.
and night blindness due to retinitis
pigmentosa. Renal abnormalities
with chronic renal failure is also a
known association.
B
Figures 12.4.2A and B: (A) LMB, obesity,
hypogonadism, night blindness; (B) LMB

Retinitis pigmentosa
McCune-Albright Syndrome
is syndrome of endocrine ere is no specific treatment
dysfunction is associated with for this condition and endocrine
patchy cutaneous pigmentation as hyperfunction is difficult to treat.
seen in the photograph and fibrous
dysplasia of the skeletal system.
Precocious puberty and hyper-
functioning of pituitary, thyroid, and
adrenals are also recognized. e
disorder is caused by the G protein
that stimulates cyclic adenosine
Figure 12.4.3: McCune Albright Syndrome
Photo Courtesy: Vandana Jain, New Delhi monophosphate (cAMP) formation.
Noonan Syndrome
Features of Noonan syndrome ere is no specific therapy for
include short stature, antimongoloid this condition and treatment is
slant, low posterior hairline, shield symptomatic such as surgical
chest, congenital heart disease, and correction of the heart defect and
a short or webbed neck. trial of growth hormone for short
stature.
Figure 12.4.4: Noonan syndrome

255
Prader-Willi Syndrome
Prader-Willi syndrome (PWS) ere is no specific therapy. PWS
consists of hypothalamic obesity, children who are growth hormone
almond shaped eyes, down turned deficient are treated with growth
mouth, hyperphagia, small hands hormone which improves their
and feet, hypotonia in infancy height, body composition and
and hypoganadism. A proportion even coordination. Sleep apnea
of children with PWS are growth can be a major problem and needs
hormone deficient. Severe apneas treatment.
can occur in this condition. Partial
deletions of chromosome 15 are
seen in some children.
Figure 12.4.5: Prader-Willi syndrome

Russell-Silver Syndrome
Russell-Silver syndrome is a ere is no specific treatment
disorder present at birth that for this genetic disease. Growth
involves poor growth, low birth hormone therapy has been
weight, short height, and differences successfully used to treat short
in the size of the two sides of stature in this condition.
the body. Prominent forehead,
triangular face maternal uniparental
disomy (UPD) for chromosome
7 is seen in some patients and
abnormality of chromosome 11 is
seen in others.
Figure 12.4.6: Russell-Silver syndrome

SHOX Gene Defect

Heteterozygous mutations of Short stature caused by SHOX gene
the SHOX gene cause Leri-Weil defect is now a licensed indication
dyschondrosteosis where as for growth hormone therapy.
milder form may lead to only short Deformities such as Madelung
stature. ere is severe mesomelic deformity may need orthopedic
dwarfism, bowing of the radius and correction.
ulna, Madelung deformity and bony
exostosis.
Figure 12.4.7: SHOX gene defect—Madelung

deformity
Turner Syndrome
is is caused by the chromosomal Short stature in Turner syndrome
abnormality of 45 X0 or 46 XX, the responds to growth hormone
second X as ring chromosome. therapy. e dose of growth
Mosaic forms are also common. hormone is higher than in Growth
Phenotypic features are short hormone deficiency. At the time
stature, webbed neck, increased of puberty hormone replacement
carrying angle, epicanthic folds, low therapy to induce and maintain
hair line and many other systemic puberty is needed.
abnormalities such as coarctation
of aorta, horseshoe shaped kidneys
Figure 12.4.8: Turner syndrome, webbing of and streak ovaries.
neck, short neck
257
Section 13
Genetics
Section Editors
Photo Courtesy
13.1 Chromosomal Disorders

13.2 Syndromes with Growth Disorders
13.3 Lysosomal Storage Disorders
13.4 Skeletal Dysplasias
13.5 Malformations/Malformation Syndromes
13.6 Miscellaneous Monogenic Disorders
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13.1 CHROMOSOMAL DISORDERS
Angelman Syndrome
Microcephaly, mental retardation Supportive care and genetic
and seizures associated with counseling are important aspects
inappropriate laughter, significant of management. Risk of recurrence
speech delay and jerky ataxic puppet is low but depends on the etiology.
like movements of trunk and upper Prenatal diagnosis is possible.
limbs are features. Skin and hair color
may be lighter. Prominent chin and
slight prognathism give a characteristic
appearance. Caused by microdeletion
on the maternal copy of chromosome
15 and the region is the same as that for
Prader-Willi region. Paternal disomy
Figure 13.1.1: Angelman syndrome of chromosome 15 and methylation
Photo Courtesy: Shubha R Phadke abnormalities are other causes.
Chromosome 1p36 Submicroscopic Deletion

Characteristic features are flat Supportive therapy is only
midface, straight eyebrows, deep set treatment. Genetic counseling
eyes and wide anterior fontanelle. should be provided. Risk of
Microcephaly and mental recurrence in sibs is unlikely to be
retardation are present. Caused by increased. Prenatal diagnosis is
submicroscopic deletion of terminal possible.
part of p arm of chromosome 1.
is syndrome has been recently
described with development of
FISH technique and appears to be
not uncommon.
Figure 13.1.2: Chromosome 1p36
submicroscopic deletion
Photo Courtesy: Shubha R Phadke
Cri du Chat (Deletion of 5p Terminal)

Some facial dysmorphism like Management is supportive. Genetic
round face, hypertelorism, small counseling should be provided. Risk
chin and mental retardation is of recurrence is negligible unless
present. Characteristic cat like cry one of the parents has balanced
is present in some. Clinical features chromosomal rearrangement.
are variable. In many cases the Prenatal diagnosis is possible.
deletion may be detectable only
by molecular cytogenetic tests like
fluorescence in situ hybridization
(FISH), MLPA or microarray.
Figure 13.1.3: Cri du chat

(Deletion of 5p terminal)
261
Down Syndrome (Trisomy 21)

Characteristic flat face, upslant of All neonates with Down syndrome
eyes, hypertelorism with protruding should be investigated for
tongue is diagnostic. In spite of hypothyroidism and associated
easy clinical diagnosis karyotype of malformations in gut, heart, eyes.
each child with Down syndrome is Primary prevention is possible
essential as the risk of recurrence in by offering ultrasonographic and
sibs depends on the chromosomal biochemical screening in first
A
abnormality of the proband or second trimesters (Triple or
(Fig. 13.1.2B). Clinical diagnosis quadruple test) to pregnant women
may be difficult in preterm neonates of all ages. In addition to traditional
in whom increased gap between karyotyping, fluorescence in situ
first and second toes and single hybridization (FISH) (Fig. 13.1.2B)
palmar crease may support the and quantitative fluorescence
B
clinical impression. polymerase chain reaction
Figures 13.1.4A and B: Down syndrome (QF PCR) on amniotic fluid sample
(Trisomy 21)
can help to provide rapid results of
prenatal diagnosis within 48 hours.
Klinefelter Syndrome
Usually present as tall stature, Testosterone therapy is indicated.
arrested puberty in boys. Small Gynecomastia may need surgery.
penis, testes and oligo/azospermia Infertility is universal. Aspiration
are always present in postpubertal of sperms from testis and
cases. Some may have gynecomastia. intracytoplasmic sperm injection
Karyotype shows two or more (ICSI) can help in infertility.
X chromosomes. Patients with Klinefelter patients may need help
mosaicism and normal karyotype to have a satisfactory self image
Figure 13.1.5: Klinefelter syndrome in some cells may have milder and to minimize the psychological
Photo Courtesy: Shubha R Phadke manifestations. problems due to hypogonadism.
Prader-Willi Syndrome
Obesity, short stature, small Behavioral therapy, diet control are
hands and feet, almond shaped needed. Growth hormone therapy
eyes, hypogonadism and mental has been tried for control of obesity.
retardation are features. Hypotonia Sudden death in a child on growth
and feeding difficulties are seen hormone therapy was reported.
in neonates and early infancy. Genetic counseling should be
Other than a microdeletion on provided. Recurrence in sibs is
chromosome 15 of paternal origin, rare and depends on the etiology.
disomy of maternal chromosome Prenatal diagnosis is possible.
15 and methylation defects of
imprinted region on chromosome
15 can cause Prader-Willi syndrome.
262 Figure 13.1.6: Prader-Willi syndrome

Rubinstein-Taybi Syndrome
Broad (bifid and medially Management is supportive.
deviated) thumbs and great toes Associated cardiac abnormalities and
with characteristic facial features central nervous system abnormalities
namely, antimongoloid slant, long like Dandy-Walker anomaly may
beaked nose with overhanging need treatment.
columella clinches the diagnosis.
A
Short stature and mental retardation
are seen. Etiologies include a
microdeletion on chromosome 16
involving CREBBP gene, mutations
in CREBBP gene, EP 300 gene and
B C other unknown causes.
Figures 13.1.7A to C: Rubinstein-Taybi
syndrome
Turner Syndrome (Monosomy X)

Characteristic features namely short All girls with Turner syndrome need
webbed neck, naevi, increased to be evaluated for cardiac and
carrying angle, short fourth renal abnormalities at the time of
metacarpal and nail hypoplasia diagnosis and regularly investigated
may not be presents in many cases. for hypothyroidism and hearing
Commonly presents as delayed problems. Growth hormone therapy
puberty or isolated short stature if started early may add 5 to 7 cm to
in a prepubertal girl. Some may final height. At puberty, girls with
present with edema of hands and Turner syndrome will need to be
feet during neonatal period (←). started on hormone replacement
Chromosomal abnormality can be therapy for development of
45, X in all cells or in mosaic form secondary sexual characters
Figure 13.1.8: Turner syndrome (Monosomy X) or deletion or isochromosome of and menstrual cycles. Problem
X. Intelligence is usually normal of infertility can be managed by
though learning difficulties in some assisted reproductive technique
focal areas may be present. using ova donation.
Velocardiofacial Syndrome
e syndrome consists of Appropriate management of cardiac
cardiac abnormality, cleft palate and associated malformations.
(submucous), pear shaped broad Velocardiofacial syndrome is
nose (Seen in both children in the caused by microdeletion of
picture). Eye abnormalities, other chromosome 22q11. FISH or MLPA
malformations and developmental for 22q deletion should be done in
delay may be present. all prenatal and postnatal cases with
cardiac malformations.
A B
Figures 13.1.9A and B: Velocardiofacial

syndrome 263
Williams Syndrome
e main features are a characteristic Treatment of cardiac problems and
face, heart defects (aortic or supportive therapy for learning
pulmonary stenosis), mental disabilities is indicated. Risk of
retardation with an outgoing recurrence in sibs is negligible
personality and sometimes unless the parent has chromosomal
hypercalcemia in infancy. e facial deletion which is very rare. Prenatal
features consist of periorbital fullness, diagnosis by FISH technique is
medial eyebrow flare, a stellate iris possible.
pattern, full cheeks and lips, and
a wide mouth with a long smooth
philtrum. Note the similarity between
two patients. e facies may become
Figure 13.1.10: Williams syndrome coarser with age. e deleted region on
Photo Courtesy: Shubha R Phadke chromosome 7 includes elastin gene.
Wolf-Hirschhorn Syndrome (4p Deletion Syndrome)

ere is hypertelorism, prominent Associated malformations like

glabella, cleft lip, microcephaly cardiac anomaly and diaphragmatic
and mental retardation. e hernia need treatment. Genetic
chromosomal deletion on 4p counseling is important. If parents
may be too small to be detected do not have structural abnormality
on karyotype and may need of chromosome 4 then the risk of
investigations like FISH or multiplex recurrence in the sibs of the patient
ligation probe amplification is not significantly increased.
(MLPA). MLPA picture in the figure Prenatal diagnosis can be done on
shows small peak of chromosome amniotic fluid sample or chorionic
4p in patient (small arrow) as villi.
Figure 13.1.11: Wolf-Hirschhorn syndrome compared to that in the control
(4p deletion syndrome)
sample (big arrow).
13.2 SYNDROMES WITH GROWTH DISORDERS

Beckwith-Wiedemann Syndrome
It is an overgrowth syndrome Increased risk of Wilms tumor
characterized by macroglossia, and other tumors is observed.
visceromegaly, omphalocele and Surveillance till growth is complete
hypoglycemia. Ear pits and creases is indicated. Increased prevalence
on ears may be present. Some have of Beckwith-Wiedemann
hemihypertrophy. e etiology is syndrome and disorders caused
complex and the disorder can be by abnormalities of imprinting are
caused by deletion, mutations or being reported in babies born by
imprinting abnormalities of any artificial reproductive techniques.
of the four genes on chromosome
11p15.5 region.
Figure 13.2.1: Beckwith-Wiedemann
264 syndrome
Cockayne Syndrome
Figure shows a child with Cockayne No therapy other than supportive
syndrome at 5 years and 12 years therapy is available. Being
of age. Microcephaly, growth and autosomal recessive in inheritance
mental retardation, deep set eyes, there is 25% risk of recurrence
deafness, retinal dystrophy and in the sibs of an affected child.
photosensitivity are characteristic Prenatal diagnosis can be provided
features. Changes of premature if the mutations are detected in
A B
aging are obvious with age. It is the proband of the family or the
Figures 13.2.2A and B: Cockayne syndrome caused by mutations in DNA repair parents.
genes namely; ERCC 6 and ERCC 8.

Characterized by low birth weight, Only supportive management
short stature, mental retardation, is possible. Mutation detection
increased body hair and upper limb in clinical settings is practically
defects of varying severity. Facial difficult as any of the 3 genes

dysmorphism is characteristic may be the cause. Most cases are
with microcephaly; short upturned sporadic and risk of recurrence in
nose and synophrys (Note: Facial sibs of the patient is not significantly
similarity between two patients). increased.
e causative genes are NIPBL,
SMC1A and SMC3.
Figure 13.2.3: Cornelia de lange syndrome

Photo Courtesy: ML Kulkarni, Shubha R Phadke
Hallermann-Streiff Syndrome
Diagnosis is suggested by Management of ophthalmological
prominent forehead, pointed nose, conditions is warranted.
small chin and usually presence
of microphthalmia and cataract.
Sparse hair, dental abnormalities
and short stature are other features.
Mental retardation is present in a
minority of cases.
Figure 13.2.4: Hallermann-Streiff syndrome

Photo Courtesy: ML Kulakarni 265
Hemihyperplasia—Isolated
e diagnosis should be considered It is likely to be heterogeneous in
after exclusion of syndromes etiology with some cases being mild
like Klippel-Trenaunay-Weber forms of Beckwith-Wiedemann
syndrome, Proteus syndrome, syndrome. ere is increased risk
Beckwith-Wiedemann syndrome of malignancies. Some studies have
which are associated with reported up to 5% risk.
hemihypertrophy. In isolated
hemihypertrophy the disproportion
is not severe and does not worsen
with growth. ere may be
associated skin hemangiomas or
other pigmentory abnormalities.
Figure 13.2.5: Hemihyperplasia—isolated

Microcephalic Osteodysplastic Primordial Dwar�ism II (MOPD II)

It is an autosomal recessive Management is supportive.
disorder caused by mutations in Complications like scoliosis may
PCNT gene. It is characterized by need treatment.
severe degree of growth retardation
and microcephaly with some
radiological changes in bones.
ough the severity of microcephaly
A B is more than Seckel syndrome;
Figures 13.2.6A and B: Microcephalic mental retardation is mild or absent.
osteodysplastic primordial dwarfism II (MOPD II) Figure shows two sisters with MOPD
II from a consanguineous family.
Proteus Syndrome
ere is rapidly progressive Surgical management is difficult
overgrowth of some of body parts and may lead to disfigurement and
(mosaic distribution) along with exaggeration of existing problems.
asymmetry, nevi, pigmentory
abnormalities, hemangiomas,
varicosities and lipomas. e
distortion of body proportion is
disfiguring and handicapping.
ere may be macrodactyly. Proteus
syndrome is associated with
mosaicism for a somatic activating
Figure 13.2.7: Proteus syndrome mutation in the AKT1 gene.
266 Photo Courtesy: Shubha R Phadke
Russell-Silver Syndrome
Prenatal growth retardation, Supportive management and
proportionate short stature and genetic counseling. Growth
limb asymmetry are features. (Right retardation during fetal life may
lower limb of the child in the picture not be obvious during first-two
is smaller than the left). Relatively trimesters.
normal head circumference gives
an appearance of large head. Bluish
sclera, clinodactyly, triangular face
and café au lait spots are other
features. Intelligence is usually
normal. Maternal disomy of
chromosome 7 is the cause in some
cases.
Figure 13.2.8: Russell-Silver syndrome

Photo Courtesy: ML Kulkarni
Seckel Syndrome

Intrauterine growth retardation, Intelligence quotient is not as
severe microcephaly, mental poor as indicated by severe
retardation and ‘bird like’ microcephaly. Supportive treatment
appearance due to prominent is necessary.
nose are characteristic features.
Mode of inheritance is autosomal
recessive. Causative genes are 5 and
include the gene encoding ataxia
telangiectasia.
Figure 13.2.9: Seckel syndrome

Sotos Syndrome
e disorder is characterized by Most cases are sporadic and due
rapid growth, advanced bone age to de novo mutation. However, if
with or without mental retardation. one of the parents is affected the
e facial phenotype consists of risk in the offspring is 50%. ere
large head, prominent forehead, is increased risk of neoplasms
and prominent chin with mild like Wilms tumor, neuroblastoma,
prognathism. e disorder is caused hepatoblastoma and leukemia. e
by mutations in NSD 1 gene. risk is reported to be 2%.
Figure 13.2.10: Sotos syndrome

267
13.3 LYSOSOMAL STORAGE DISORDERS
Fabry Disease
An X linked disorder caused by Enzyme replacement therapy
deficiency of alpha-galactosidase (ERT) is available and it reduces
presents as episodic burning pain pain and improves quality of life.
in limbs without any signs (Note ERT also reduces the risk of stroke,
the agony on the patient’s face). cardiomyopathy and chronic renal
A is makes diagnosis difficult and failure which are the main causes of
patient may be labeled as a neurotic morbidity and mortality in Fabry’s
and diagnosis gets delayed for years. disease patients. Relatives including
e characteristic angiokeratomas females should be screened for
(Fig. 13.3.1C) on skin if present the enzyme deficiency as there
B C clinches the diagnosis. Corneal is a great deal of variability in the
Figures 13.3.1A to C: Fabry disease deposits and mild coarsening of face presentation.
Photo Courtesy: Shubha R Phadke are other diagnostic clues.
I-Cell Disease (Mucolipidosis Type II)

is condition is characterized Management is supportive. Risk

clinically by psychomotor of recurrence in sibs of an affected
retardation, short stature and child is 25%. ough clinical
Hurler-like features. Most cases features along with radiological
present during first year with changes of dysostosis multiplex
coarse facial features, joint are suggestive of diagnosis;
A B
contractures, gum hypertrophy confirmation of diagnosis by
Figures 13.3.2A and B: I-cell disease and hepatosplenomegaly. Motor enzyme assays is essential for
(Mucolipidosis Type II)
development may be more genetic counseling and prenatal
severely affected than cognitive diagnosis.
development. e etiology is
deficiency of an enzyme N-acetyl-
α-glucosaminyl phosphotransferase
(GNPTA).
Mucopolysaccharidosis I (Hurler Syndrome)

It is a progressive disorder caused Enzyme replacement therapy
by deficiency of a lysosomal helps greatly in improvement in
enzyme, alpha-L-iduronidase. e contractures, skin thickening and
manifestations appear in the form of hepatosplenomegaly and is useful
gibbus, coarsening of facial features, in patients without involvement of
joint stiffening, growth retardation brain. Bone marrow transplantation
and hepatosplenomegaly. ere if done before deterioration of
A is clouding of corneas, mental cognitive function has shown good
retardation and characteristic bony results. Being inherited in autosomal
changes described as dysostosis recessive fashion, the risk of
multiplex. Mild variant is known recurrence in sibs of the affected child
B as MPS I scheie type. Variants of is 25% or 1 in 4. Prenatal diagnosis
intermediate severity (MPS ISH) is possible by testing mutations or
Figures 13.3.3A and B: Mucopolysaccharidosis
have normal cognitive function (girl assaying enzyme in the chorionic
268 I (Hurler syndrome)
Photo Courtesy: ML Kulkarni, Shubha R Phadke shown in Figure 13.5.3). villus sample.
Mucopolysaccharidosis II (Hunter Syndrome)

e type II mucopolysaccharidosis Enzyme replacement therapy is
is inherited in an X-linked fashion. available and effective. However
Manifestations are similar to that cost is enormous. Bone marrow
of MPS I except absence of corneal transplantation is another option.
clouding. Age of onset is one-two Genetic counseling, carrier
years. Confirmation of Hunter detection of at risk female relatives
syndrome and all lysosomal storage and prenatal diagnosis are helpful
disorders should be done by to the family.
enzyme assay. Milder variants with
normal IQ are known.
Figure 13.3.4: Mucopolysaccharidosis II
(Hunter syndrome)
Mucopolysaccharidosis Type IV—Morquio Type

is is an autosomal Joint laxity, genu valgum, odontoid

recessively inherited type of hypoplasia leading to atlantoaxial
mucopolysaccharidosis with dislocation need appropriate
predominant bone involvement treatment. Genetic counseling is
leading to short trunk dwarfism important part of management.
B (flattened vertebrae with anterior
beaking and changes in metacarpals
and metaphyses). Onset may be in
the first-two years of life with genu
valgum, a short trunk and neck,
A C
pectus carinatum and coarse facies.
Figures 13.3.5A to C: Mucopolysaccharidosis Clouding of the cornea is mild but
type IV—Morquio type
deafness may be a problem.
13.4 SKELETAL DYSPLASIAS

Achondrogenesis
ere are two types of Lethal in neonatal period.
achondrogenesis caused by DTDST Radiograph, photograph and
and COL2A1 and need to be autopsy of all stillborns should
differentiated from numerous other be done for identifying cause
neonatal lethal skeletal dysplasias. of stillbirth and provide genetic
orax is narrow and small and counseling. Disproportionately
limbs are very small. Radiograph short limbs suggest the possibility
shows characteristic absence of of skeletal dysplasia. Prenatal
ossification of vertebral bodies. diagnosis by ultrasonography
should be offered.
A B
Figures 13.4.1A and B: Achondrogenesis

269
Achondroplasia
Achondroplasia is a common Role of limb lengthening surgeries
skeletal dysplasia with autosomal and growth hormone therapy is
dominant inheritance. e diagnosis limited and debatable. Associated
is possible at birth. e large head complications like hydrocephalus,
with prominent forehead, rhizomelic lumbar canal stenosis and sleep
shortening of limbs, trident hand apnea may need treatment.
(during infancy) and short stature Obesity is another complication
are clinical features. Radiological which needs to be avoided. Risk of
B
confirmation is by square iliac recurrence in the sibs of a sporadic
bones (elephant ear) and decreasing case with normal parents is 1 in
interpeduncular distance in lumbar 400 while the risk in the offspring
spine. One specific mutation in of a person with achondroplasia
A C FGFR 3 gene is seen in most of the is 50%. Ultrasound based prenatal
Figures 13.4.2A to C: Achondroplasia
cases of achondroplasia and is helpful diagnosis is not possible till third
Photo Courtesy: Shubha R Phadke for prenatal diagnosis. trimester.
Ellis-Van Creveld Syndrome

e cardinal features are short Associated cardiac abnormality will

limbed short stature, narrow thorax, need surgery. Respiratory problems
postaxial polydactyly, deep set nails should be managed with care.
and cardiac anomaly. Multiple ough limb shortening may not
oral frenula, missing teeth, midline become obvious before 20 weeks of
pseudocleft of lip are other features. gestation; prenatal diagnosis can be
Narrow thorax may be cause done by looking for polydactyly by
respiratory distress and neonatal ultrasonography.
A B
death in about half of cases. Mode of
inheritance is autosomal recessive
and causative genes are EVC genes.
C
Figures 13.4.3A to C: Ellis-Van creveld syndrome

Photo Courtesy: ML Kulkarni, Shubha R Phadke
Osteogenesis Imperfecta (OI)—Type III

A well known disease presenting Bisphophonates improve bone
with recurrent fractures and density, reduce fracture rate and
deformities, has many types based improve quality of life. Treatment
on clinical presentation and should be done under close
causative genes. Severity varies supervision. Deafness is a common
A
greatly. Type II is lethal in neonatal complication of OI. Severe varieties
life and type III is most severe of may be detected by prenatal
the rest. Limb deformities, blue ultrasonography. Risk of recurrence
sclera, joint laxity may be present. depends on the type of OI.
Radiographs show marked decrease
in bone density and vertebrae may
be flattened.
B C
270 Figures 13.4.4A to C: Osteogenesis imperfecta

(OI)—Type III
Osteopetrosis
e inheritance can be recessive or Bone marrow transplantation is
dominant. e causative genes are curative. Cranial nerve involvement
very many and severity is greatly may need surgical decompression.
variable. e cases presenting Recurrence in sibs can be prevented
during childhood are usually of by prenatal diagnosis if mutations
severe variety presenting with are identified in the affected
pancytopenia, hepatosplenomegaly, child. Prenatal ultrasonography
prominent forehead with or without and radiography cannot pick up
optic atrophy. Radiographs show increased bone density.
A B
increased bone density and bone in
Figures 13.4.5A and B: Osteopetrosis bone appearance.
Pseudoachondroplasia
Pseudoachondroplasia presents Osteoarthritis, deformities at knee
at 2 to 3 years with short stature, and atlantoaxial dislocation if

short limbs, waddling gait and present need to be treated. Genetic
lumbar lordosis. Joint laxity, small counseling is indicated.
and delayed epiphyses, wide
metaphyses and radiological
B
changes in spine give the diagnosis.
Face is normal. Causative gene is
COMP.
A C
Figures 13.4.6A to C: Pseudoachondroplasia

Spondyloepiphyseal Dysplasia (SED)

It is a skeletal dysplasia with Osteoarthritis may need medical
predominant trunk shortening (hands treatment and joint replacement in
reach up to the knees). Platyspondyly some cases. Mode of inheritance
(flattened vertebrae) are characteristic. can be autosomal or X linked and
ere are many types caused by recessive or dominant. Risk of
B different genes, the commonest recurrence depends on accurate
being X linked. (Affected child and diagnosis and family history.
his maternal uncle are shown in
figure) e manifestations vary from
A C short stature at birth to early onset
Figures 13.4.7A to C: Spondyloepiphyseal osteoarthritis in adults. Associated
dysplasia (SED) Child with SED and similarly features like cleft palate, myopia may
affected maternal uncle
be present in some types of SED.
Photo Courtesy: Shubha R Phadke 271
13.5 MALFORMATIONS/MALFORMATION SYNDROMES
Apert Syndrome (Acrocephalosyndactyly)

Tower shaped skull, prominent eyes, Surgery for craniosynostosis should
syndactyly of hands (mitten hands) be done as early as possible for best
and feet makes clinical diagnosis results. Mental retardation may
easy. One common mutation in be there in spite of early and good
FGFR 2 gene accounts for most surgery. Hands need plastic surgery
cases making molecular diagnosis work. Prenatal diagnosis is possible.
easy. Fifty percent of children are
mentally retarded.
Figure 13.5.1: Apert syndrome

(Acrocephalosyndactyly)
Aplasia of Corpus Callosum (ACC)

Aplasia of corpus callosum (ACC) is Screening for associated
infrequently is detected in normal malformations and appropriate
individuals. It can be a part of treatment if present.
many malformation syndromes.
Sagital MRI brain is necessary for
demonstration of ACC. Parallel
A B lateral ventricles and dilatation of
Figures 13.5.2A and B: Aplasia of corpus posterior horns of lateral ventricles
callosum (ACC) (colpocephaly) in axial CT scan of
Photo Courtesy: Shubha R Phadke head and prenatal USG is suggestive
of ACC.
Bardet-Biedl Syndrome (BBS)

Characterized by postaxial Supportive management is needed
polydactyly, short stature, for associated retinal, renal problems
obesity, renal problems, retinal and deafness. USG can be used to
degeneration and deafness. look for polydactyly for prenatal
Etiology is heterogeneous making diagnosis.
molecular diagnosis difficult. Risk of
recurrence in the sibs of a child with
BBS is 25%.
272 Figure 13.5.3: Bardet-Biedl syndrome (BBS)

Cardiofacial Syndrome (Asymmetric Crying Facies)

It is caused by partial facial palsy or Abnormality is obvious only while
hypoplasia of depressor anguli oris crying. Cardiac malformations
muscle. ere may be associated should be appropriately treated.
cardiac malformations like
ventricular septal defect.
Figure 13.5.4: Cardiofacial syndrome

(Asymmetric crying facies)
Cardiofaciocutaneous (CFC) Syndrome

Cardiac anomaly with facial Surgical management of cardiac

dysmorphism like Noonan malformation is necessary.
syndrome, dry skin and sparse,
friable and curly hair are features.
Head may be large. Pulmonary
stenosis is common. CFC syndrome
is caused by mutations in KRAS and
BRAF genes.
Figure 13.5.5: Cardiofaciocutaneous (CFC)

syndrome
Carpenter Syndrome (Acrocephalopolysyndactyly II)

Preaxial polydactyly in feet and Surgical treatment for
craniosynostosis are features. craniosynostosis and hand
Mental retardation may or abnormalities is necessary. Mode
may not be present. Postaxial of inheritance is autosomal
polydactyly and cardiac anomalies, recessive and risk of recurrence
brachydactyly and syndactyly also in the sibs of the patient is 25%.
may be present. Causative gene is Prenatal diagnosis is possible
RAB 23. by ultrasonography or mutation
detection.
Figure 13.5.6: Carpenter syndrome

(Acrocephalopolysyndactyly II) 273
Crouzon Syndrome
Tower skull, proptosis, midface Possible complications like
hypoplasia with beaked nose hydrocephalus, eyeball dislocation
and dental malocclusion is may need treatment. Surgical
characteristic. ere are no limb treatment for craniosynostosis is
abnormalities. Crouzon syndrome needed during infancy. Risk of
is caused by mutations in FGFR 2 recurrence in the offspring of an
gene. individual with Crouzon syndrome
is 50%.
A B
Figures 13.5.7A and B: Crouzon syndrome

Dandy-Walker Malformation (DWM)

Absence of cerebellar vermis and a Isolated DWM may have good
large posterior fossa cyst (→) are the neurological outcome. Surgical
characteristic features. DWM can be treatment for CNS and non-
isolated or a part of chromosomal CNS malformations is needed.
or nonchromosomal syndromes. Genetic counseling is indicated.
Hydrocephalus, aplasia of ere is high-risk of associated
corpus callosum and other chromosomal abnormalities.
system malformations may be
associated.
Figure 13.5.8: Dandy-Walker malformation

Goldenhar Syndrome (Facio-Auriculo-Vertebral Syndrome)

Characterized by microtia, Surgical management of
preauricular ear tags, macrostomia, malformations. Most cases are
mandibular hypoplasia and usually sporadic. Risk of recurrence
epibulbar dermoid. Both sides in the sibs is not significantly
of the face may be involved but increased.
asymmetrically. ere may be
associated abnormalities of cervical
spine, heart, kidneys, brain and
A B limbs.
Figures 13.5.9A and B: Goldenhar syndrome
(Facio-Auriculo-Vertebral syndrome)
274 Photo Courtesy: ML Kulkarni
Holoprosencephaly
Varying degrees of midline defects An attempt to identify etiology by

of brain are seen in stillborn and chromosomal analysis, examination
live born. Fused thalami and single of parents should be done. Single
ventricle is seen in the CT scan of central incisor may be the only
the neonate with microcephaly. feature in a carrier parent. Many
Holoprosencephaly was prenatally genes have been identified, but
detected in the baby during third mutation detection in clinical
trimester. practice may not be feasible.
Prenatal diagnosis is possible by
USG.
Figure 13.5.10: Holoprosencephaly

Holt-Oram Syndrome

umb abnormalities with atrial Cardiac defects need surgical
septal defect are characteristic. intervention. Intelligence is normal.
Ventricular septal defect and Prenatal diagnosis of upper limb
varying degree of forearm malformations will be possible by
involvement may be there. e ultrasonographically.
B syndrome is caused by mutations in
TBX 5 gene.
A C
Figures 13.5.11A to C: Holt-Oram syndrome

Noonan Syndrome (NS)

Facial features include Treatment for cardiac problems is
hypertelorism, ptosis, upturned necessary.
nose (Figs 13.12.4A and B). e
main features are short stature,
a short neck with webbing (C) or
redundancy of the skin, cardiac
A B C anomalies and hypertrophic
Figures 13.5.12A to C: Noonan syndrome (NS) cardiomyopathy (B-scar of surgery).
Photo Courtesy: Shubha R Phadke, ML Pectus deformity may be present.
Kulkarni
NS is caused by PTPN 11 or KRAS
gene mutations. 275
Orofaciodigital Syndrome (OFD)—Type IV

Orofaciodigital syndromes are Genetic counseling is indicated.
characterized by hypertelorism, cleft Prenatal diagnosis is possible by
lip, polydactyly, bifid tongue, tongue ultrasonography.
lobulations. ere are cardiac,
A CNS and other malformations.
Hypoplastic tibia is characteristic of
type IV (OFD_ Mohr Majewski type).
B C
Figures 13.5.13A to C: Orofaciodigital

syndrome (OFD)—type IV
Pachygyria
Pachygyria is an abnormality of Supportive treatment for cognitive
neuronal migration characterized deficit, seizures is indicated. Family
by a few and broad gyri and thick should be referred for genetic
cortex. Etiology is heterogeneous. counseling.
Head circumference may be normal
or small.
Figure 13.5.14: Pachygyria

13.6 MISCELLANEOUS MONOGENIC DISORDERS

Albinism Type I
e most common type of albinism Dark glasses for photophobia and
(type I) is caused by mutations in appropriate clothing is important.
tyrosinase gene and is inherited Mutation detection is possible
in autosomal recessive fashion. and can help in providing prenatal
Reduced or absent pigment diagnosis. e risk of recurrence in
in skin, hair and eyes is seen. the sibs of a child with albinism is
Vision is markedly affected. Iris 25%. Parents are obligate carriers
transillumination, nystagmus, but are clinically normal.
strabismus, high refractive errors,
foveal dysgenesis, chorioretinal
hypopigmentation are major
problems.
A B
276 Figures 13.6.1A and B: Albinism type I 276

Ataxia Telangiectasia
An autosomal recessive disorder Only supportive management is
presenting in early childhood possible. Genetic counseling and
with ataxia, dysarthria, prenatal diagnosis is indicated.
immunodeficiency and conjunctival Prenatal diagnosis can only be done
telangiectasia is caused by if the mutations in the affected
mutations in ATM gene. ere patient or carrier parents are
is increased risk of malignancy. detected.
Alpha fetoprotein (AFP) is raised in
patient’s serum.
Figure 13.6.2: Ataxia telangiectasia
Cutis Laxa
Cutis laxa is genetically Surveillance for complications and
heterogeneous condition. Sagging appropriate treatment is necessary.
cheeks, lax and redundant skin, Genetic diagnosis can help in

excessive wrinkling are clinical prenatal diagnosis by mutation
manifestations. Joint dislocations, detection in the chorionic villus
bladder diverticula, gut rupture sample.
can be complications. Autosomal
recessive variety is associated with
developmental delay. Large anterior
fontanelle and wormian bones are
seen.
A B
Figure 13.6.3: Cutis laxa

Ehlers-Danlos Syndrome
e characteristic features are hyper Aneurysms, lens dislocation and
extensible, soft and velvety skin and other treatable complications
joint laxity. Easy bruisability and should be looked for and treated.
thin scars are other features. ere Joint laxity may be difficult to treat
are many biochemical, clinical and and may cause handicap. Genetic
genetic types. counseling is indicated.
Figure 13.6.4: Ehlers-Danlos syndrome 277

Fanconi Pancytopenia
Anemia or pancytopenia Bone marrow transplantation from
presents around 8 years. umb HLA matched sibling is the treatment.
abnormalities and radial defects It should be made sure that the donor
are common. Microcephaly, mental sib is not an affected nonmanifesting
retardation and growth retardation sib.
may be present. ere is increased
risk of cancers. At least 8 causative
genes are known. Being a DNA
repair disorder the diagnosis
can be done by demonstrating
chromosomal breakages → and
quadri/triradials → in metaphases.
Figure 13.6.5: Fanconi pancytopenia
Fragile X Syndrome
Figure shows normal facies of two Being the most common cause
brothers with fragile X syndrome. of familial mental retardation,
Mental subnormality of various counseling and carrier detection
severity, long face, large head, macro- of family members is important.
orchidism, joint laxity, hyperactivity, All males with idiopathic mental
seizures and behavioral problems are retardation should be tested for
features. Clinical features are subtle Fragile X syndrome by DNA based
and not diagnostic. Being an X linked test. Depending upon IQ, training
A B semi-dominant disorder carrier and habilitation are important.
Figures 13.6.6A and B: Fragile X syndrome females may be normal or have mild Prenatal diagnosis is possible.
Photo Courtesy: Shubha R Phadke manifestations. e disorder is caused
by dynamic triplet repeat mutation.
Griscelli Syndrome with Hemophagocytosis (Type II)

An autosomal recessive disorder is Bone marrow transplantation from
caused by mutations in RAB 27A HLA matched donor is successful
gene. e clinical features include for cases without neurological
silver gray hair, pale skin and immu- manifestations. Cases with isolated
nodeficiency Recurrent infections can skin and hair findings need to be
be severe and are accompanied by followed up for the possibility of
hepatosplenomegaly, pancytopenia development of immunological or
and lymphadenopathy. Investigations neurological manifestations.
A B reveal a granulocytopenia, abnormal
cellular immunity, reduced immu-
Figures 13.6.7A and B: Griscelli syndrome
with hemophagocytosis (Type II) noglobulins, hypertriglyceridemia,
Photo Courtesy: Shubha R Phadke hypoproteinemia and erythrophago-
cytosis. Hair microscopy shows large
clumps of pigment. Other types with
neurological manifestations or only
skin manifestations are caused by
278 other genes.
Larsen Syndrome
It is a syndrome of joint Joint laxity needs specialist’s
hypermobility and multiple treatment. Atlanto axial dislocation
dislocations. Depressed nasal is a complication to be looked for
bridge, flat midface and spatulate and treated.
fingers are characteristic features. It
is a genetically and phenotypically
heterogeneous condition.
A B
Figures 13.6.8A and B: Larsen syndrome
Marfan Syndrome
Hyposthenic built, long arms, Close surveillance for cardiac
arachnodactyly, pectus deformity, problems and surgery if needed.
scoliosis, joint laxity, flat feet and Eye problems need specialist’s

striae are suggestive of Marfan treatment. Beta blockers are given
syndrome. Aortic root dilatation, to control progression of cardiac
myopia and lens dislocation are pathology. Recent success of
main problems. Marfan syndrome is losartan in preventing cardiac
caused by mutation in FBN 1 gene. complications in animals has
prompted trials in humans.
C
A B D
Figures 13.6.9A to D: Marfan syndrome

Neuro�ibromatosis 1 (NF 1)
A common disorder inherited Complications like scoliosis,
in autosomal dominant fashion pseudoarthrosis of the tibia, and
manifests with neurofibromas, café hypertension due to renal artery
au lait spots. Some may have mental stenosis, pheochromocytoma,
subnormality. e causative gene neurofibrosarcomas, meningiomas,
is NF 1. Plexiform neurofibromas and acoustic neuromas will need
(seen in right lower limb in appropriate treatment. Risk of
Fig. 13.6.1B) may occur in one-third recurrence in the offspring of a
A B of cases and can be disfiguring. parent with NF 1 is 50%. If mutation
Figures 13.6.10A and B: Neurofibromatosis 1 is detected in the affected individual
(NF 1) prenatal diagnosis can be done by
Photo Courtesy: ML Kulkarni, Shubha R chorionic villus sampling. It will
Phadke
confirm presence or absence of
mutation in the fetus but cannot
give any idea about the severity of
manifestations. 279
Tuberous Sclerosis (TS)
Tuberous sclerosis is an autosomal Seizures are difficult to

dominant disorder with great deal control. Angiolipomas of
of intrafamilial variability. Seizures kidney, astrocytoma of brain,
and mental retardation are present rhabdomyoma of heart are possible
in 60% and 40% cases respectively. complications to look for and treat.
Skin manifestations include adenoma Causative genes are TSC 1 and
sebaceum (seen in the picture TSC 2. Mutation detection helps
with affected mother and son), in providing prenatal diagnosis.
A B hypopigmented patches, shagreen Parents need to be screened for TS
Figures 13.6.11A and B: Tuberous sclerosis (TS) patches, subungal fibromas. Presence stigmata before counseling. Risk of
Photo Courtesy: ML Kulkarni of calcified tubers in neuroimaging is recurrence in sibs of a sporadic case
diagnostic. (normal parents) of TS is 2 to 3%.
Waardenburg Syndrome (WS)—Type I

is autosomal dominant condition Deafness can be treated by hearing

manifests with a white forelock, aid or cochlear implant with speech
light colored iris, heterochromia of therapy. Causative gene is PAX 3.
iris, high nasal bridge, synophrys Genetic counseling is indicated.
and dystopia canthorum (Increased
distance between inner canthi but
normal interpupillary distance.
About half of the patients have
deafness. Type II WS does not have
dystopia canthorum. Cleft lip and
palate, Hirschsprung’s disease, and
a congenital heart defect may be
Figure 13.6.12: Waardenburg syndrome present.
(WS)—Type I
X-Linked Anhidrotic Ectodermal Dysplasia

Common ectodermal dysplasia. Symptomatic management to
Affected males have saddle nose, prevent hyperpyrexia. Carrier
oligodontia, sparse and light colored females may have some teeth
hair and normal intelligence. missing. Mutation in X-linked
Eyebrows and eyelashes are sparse. causative genes, namely EDA 1;
e affected patients do not sweat if detected, carrier detection and
and often present in infancy with prenatal diagnosis can be provided
high fevers. Autosomal varieties of to the relatives.
ectodermal dysplasia are known.
Figure 13.6.13: X-linked anhidrotic

ectodermal dysplasia
280 Photo Courtesy: Shubha R Phadke
Section 14
Allergy, Rheumatology
Section Editors
Major K Nagaraju, Vijay Viswanathan
Photo Courtesy
Major K Nagaraju, M Ramprakash, Raju P Khubchandani, Vijay Viswanathan
14.1 Common Allergic Conditions

14.2 Uncommon Allergic Conditions but not Rare
14.3 Common Rheumatological Conditions
14.4 Uncommon Rheumatological Conditions but not Rare
14.5 Musculoskeletal Syndromes
Section Outline
14.1 COMMON ALLERGIC CONDITIONS 283 ♦ Technique of Administration of Intranasal Steroids in a
♦ Acute Urticaria 283 Small Child 292
♦ Allergic Conjunctivitis 283 ♦ Technique of Administration of Intranasal Steroids in
♦ Allergic Line 283 Adolescent 293
♦ Allergic Shiners 284
14.3 COMMON RHEUMATOLOGICAL CONDITIONS 293
♦ Atopic Dermatitis—Face 284
♦ Enthesitis Related Arthritis 293
♦ Atopic Dermatitis—Elbow (Flexural Eczema) 284
♦ CT-Paranasal Sinuses—Normal 285
♦ Juvenile Idiopathic Oligoarthritis 293
♦ CT-Paranasal Sinuses—Pan Sinusitis 285

♦ Juvenile Idiopathic Polyarthritis 294
♦ CT-Paranasal Sinuses—Polyp in Left Maxillary Sinus 285

♦ Kawasaki Disease 294
♦ Method of Examination of the Nose 286 ♦ Kawasaki Disease—Erythematous Induration Over
♦ Papular Urticaria—Insect Bite Allergy 286 BCG 294

♦ Phlyctenular Conjunctivitis 286 ♦ Side Effect of Prolonged Steroid Therapy—Collapsed
♦ Tonsillar Enlargement 287 Vertebra 295

♦ X-Ray Neck Lateral View for Adenoids 287 ♦ Systemic Onset Juvenile Idiopathic Arthritis 295
♦ Typical Purpuric Rash of HSP 295
14.2 UNCOMMON ALLERGIC CONDITIONS BUT NOT
RARE 287 14.4 UNCOMMON RHEUMATOLOGICAL CONDITIONS BUT
♦ Allergic Conjunctivitis—Conjunctival Pigments 287 NOT RARE 296
♦ Allergic Conjunctivitis—Horner-Trantas Spots 288 ♦ Juvenile Dermatomyositis 296
♦ Allergic Conjunctivitis—Limbal Gelatinous ♦ Juvenile Dermatomyositis—Nodular Swellings
Nodules 288 (Calcinosis) 296
♦ Allergic Conjunctivitis—Limbus Nodules 288 ♦ Juvenile Dermatomyositis—Calcinosis Cutis 296
♦ Allergic Gape 289 ♦ Juvenile Systemic Sclerosis—“Pursed lip”
♦ Allergic Giant Papillary Conjunctivitis 289 Appearance 297
♦ Allergic Mannerisms 289 ♦ Juvenile Systemic Sclerosis—Flexion Contractures with
♦ Allergic Salute 290 Hypopigmentation over Bony Points 297
♦ Allergic Salute—Alternative Method 290 ♦ Juvenile Systemic Sclerosis—Healed Vasculitic
♦ Allergy Skin Testing—Reaction (Forearm) 290 Ulcer 297
♦ Allergy Skin Testing—Reaction (on the Back) 291 ♦ Linear Scleroderma 298
♦ Autologous Serum Skin Test (ASST) 291 ♦ SLE—“Butterfly” Rash 298
♦ Dennis Morgan Folds—Sign of Allergic Rhinitis 291
♦ SLE—Mucositis Involving Central Hard Palate 298
♦ Long Face Syndrome 292
♦ Peak Nasal Inspiratory Flow Meter for Assessment of 14.5 MUSCULOSKELETAL SYNDROMES 299
Nasal Obstruction 292 Benign Joint Hypermobility Syndrome 299
14.1 COMMON ALLERGIC CONDITIONS
Acute Urticaria
Picture showing raised red skin Antihistamines. Steroids if there is
lesions over the back of 10 years old angioedema.
child, associated with itching.
The most common causes are viral
infections, food and drugs.
Figure 14.1.1: Acute urticaria

Photo Courtesy: Major K Nagaraju, Chennai
Allergic Conjunctivitis
Allergic conjunctivitis is • Treatment by avoiding causative
inflammation of the conjunctiva allergens, local antihistamines
due to allergy. Commonly and local nonsteroidal anti
associated with allergic rhinitis. inflammatory drugs.
• Sodium chromoglycolate eye
drops are used for prophylaxis.
Figure 14.1.2: Allergic conjunctivitis

Allergic Line
Dark line between cartilaginous Leukotriene antagonists are useful
and bony septum due to constant in seasonal allergic rhinitis and
pressing over the cartilaginous allergic rhinitis associated with
portion of the septum for relieving asthma.
nasal block.
Figure 14.1.3: Allergic line

Photo Courtesy: Major K Nagaraju, Chennai 283
Allergic Shiners
Bluish black discoloration of Allergic Shiners indicate nasal
lower eyelids due to venous block. Treat with intranasal steroid
stasis in alveolar tissues of lower or leukotriene antagonists of low
orbitopalpebral grooves from systemic bioavailability leukotriene
pressure on veins by edematous receptor antagonists.
allergic mucus membranes of nose
and paranasal cavities. It is very
useful sign of allergic rhinitis.
Figure 14.1.4: Allergic shiners

Atopic Dermatitis—Face
Picture showing erythematous skin Treat with emollients/mild potency

lesion over the cheek in an infant. steroids.
The most common cause is due
to atopic dermatitis, which often
associated with itching.
Figure 14.1.5: Atopic dermatitis—Face

Atopic Dermatitis—Elbow (Flexural Eczema)

Flexural erythema more seen in Treat with emollients/mild potency
children. One of the manifestation steroids.
of atopic dermatitis.
Figure 14.1.6: Atopic dermatitis—Elbow

(Flexural eczema)
284 Photo Courtesy: Major K Nagaraju, Chennai
CT-Paranasal Sinuses—Normal
CT scan of paranasal sinuses— Acute sinusitis: Treat with
Coronal view showing normal Co-amoxiclav for 10 to 14 days.
maxillary sinuses, ethmoidal
sinuses, patency of osteomeatal
complex and bilateral agenesis of
frontal sinuses in a child.
Axial and coronal views are used
to assess sinusitis, polyps and the
patency of osteomeatal complex.
Figure 14.1.7: CT-Paranasal Sinuses—Normal

CT-Paranasal Sinuses—Pan Sinusitis

CT paranasal sinuses showing • Chronic sinusitis: Antimicrobials
bilateral maxillary sinusitis. for six weeks.
Ethmoidal sinusitis with bilateral • Resistance cases: Refer for sur
osteomeatal block. gery. Other indications for sinus
surgery are antrochoanal polyp,
orbital abscess and intracranial
complications due to sinusitis.
Figure 14.1.8: CT-Paranasal sinuses—Pan sinusitis

CT-Paranasal Sinuses—Polyp in Left Maxillary Sinus

CT-Paranasal sinuses—Coronal Polyps can be managed with
view in a 12 years old showing polyp minimal invasive functional
in the left maxillary sinus. endoscopic sinus surgery.
Figure 14.1.9: CT-Paranasal sinuses—Polyp in

left maxillary sinus
Method of Examination of the Nose

In children examination of nose Examination of the nose forms
can be better done by lifting the tip an important part of respiratory
of the nose of patient with thumb system.
of the examiner to visualize the
nasal mucosa, septum and inferior
turbinates.
Children will be very scared if we
use nasal speculum.
Figure 14.1.10: Method of examination

of the nose
Papular Urticaria—Insect Bite Allergy

Papular urticaria is a common and Self-limited, and children
often annoying disorder manifested eventually outgrow this disease,
by chronic or recurrent papules probably through desensitization
caused by a hypersensitivity after multiple arthropod exposures.
reaction to the bites of mosquitoes,
fleas, bedbugs, and other insects.
Individual papules may surround
a wheal and display a central
punctum.
Figure 14.1.11: Papular urticaria—

Insect bite allergy
Phlyctenular Conjunctivitis
Phlyctenular is a type IV Treatment is topical steroids.
hypersensitivity to an antigen
present elsewhere in the body. It
presents as a conjunctival nodule at
the limbus with congestion.
Figure 14.1.12: Phlyctenular conjunctivitis

Tonsillar Enlargement
Tonsillar enlargement: Tonsillectomy indicated in patients
Grade 1: Tonsils just outside of with three or more infections of
the tonsillar fossa, <=25% of the tonsils per year in each of the
oropharyngeal width. preceding three years despite
adequate medical therapy.
Grade 2: Tonsils occluding 26 to
<=50% of the oropharyngeal width.
Grade 3: Tonsils occluding 51 to
<75% of the oropharyngeal width.
Grade 4: Tonsils occluding greater
Figure 14.1.13: Tonsillar enlargement than 75% of the oropharyngeal
Photo Courtesy: Major K Nagaraju, Chennai width.
X-Ray Neck Lateral View for Adenoids

X-ray neck lateral view showing soft Adenoidectomy is indicated in
tissue shadow. severe obstructive sleep apnea
(Adenoids) compromising the and recurrent acute otitis media or
Nasopharyngeal airway. chronic serous otitis media.
Adenoid hypertrophy will
compromise the nasopharyngeal air
passage.
Figure 14.1.14: X-ray neck lateral view for

adenoids
14.2 UNCOMMON ALLERGIC CONDITIONS BUT NOT RARE

Allergic Conjunctivitis—Conjunctival Pigments
Pigment deposition in the No treatment needed.
conjunctiva occurs in chronic
allergic conjunctivitis and clinically
is evident as muddy conjunctiva.
This is a sign of chronic allergic
conjunctivitis.
Figure 14.2.1: Allergic conjunctivitis—

Conjunctival pigments
Photo Courtesy: Major K Nagaraju, 287
M Ramprakash, Chennai
Allergic Conjunctivitis—Horner-Trantas Spots

Horner-Trantas spots are fine white Treated with fluoromethalone eye
spots found at the limbus and are drops or loteprednol eye drops
due to accumulation of eosinophils. along with tear substitutes.
Figure 14.2.2: Allergic conjunctivitis—Horner-

Trantas spots
Photo Courtesy: Major K Nagaraju,
Allergic Conjunctivitis—Limbal Gelatinous Nodules

Normally seen in allergic Treated with topical anti-

conjunctivitis. This has to be inflammatory agents or with topical
differentiated from phylectenular steroids. Tear substitutes provide
keratoconjunctivities by slit-lamp relief from itching.
examination.
Figure 14.2.3: Allergic conjunctivitis—Limbal

gelatinous nodules
Allergic Conjunctivitis—Limbus Nodules

Accumulation of WBCs and Dual acting drugs like olopatadine
conjunctival hypertrophy at the kelotifen eye drops can be used.
limbus (presents as gelatinous
nodules) or in the upper tarsal
conjunctiva.
Figure 14.2.4: Allergic conjunctivitis—

Limbus nodules
288 M Ramprakash, Chennai
Allergic Gape
See this child is having open Allergic rhinitis: Intranasal steroids
mouth—due to mouth breathing. It are the drug of choice in blockers.
is one of the sign’s of allergic rhinitis
in which due to nasal block child
breathes through the mouth.
Figure 14.2.5: Allergic gape


Allergic Giant Papillary Conjunctivitis
The septae separating the papillae Treated with anti-inflammatory
rupture, leading to formation of agents or steroids.
giant papillae in the upper tarsal
conjunctiva. Can be seen in contact
lens users also.
Figure 14.2.6: Allergic giant papillary

conjunctivitis
Allergic Mannerisms
Child exhibiting facial grimaces due For treatment of allergic
to nasal block. rhinitis avoid first generation
antihistamines due to cognitive
impairment and sedation.
Figure 14.2.7: Allergic mannerisms

Allergic Salute
Child constantly rub the tip of the Subcutaneous or sublingual
nose to relieve itching and free the immunotherapy is recommended
edematous turbinate from septum. in one or two antigens responsible
for symptoms of AR and in cases not
responding to pharmacotherapy.
Figure 14.2.8: Allergic salute

Allergic Salute—Alternative Method

This clinical picture is commonly Treat with intranasal steroids to

seen in our day-to-day office relieve the nasal obtraction.
practice as a manifestation of
allergic salute.
Figure 14.2.9: Allergic salute—Alternative

method
Allergy Skin Testing—Reaction (Forearm)

Allergy skin testing is done using • Allergy skin test is the prerequisite
lancet for prick method which is the for immunotherapy.
common method used to detect the • Sensitivity and specificity for upper
sensitization of body to allergen. respiratory symptoms 94% and
Interpretation done by measuring 80%, where as lower respiratory
the size of the wheal. If wheal >2 cm symptoms 84% and 87%. For food
of negative control its significant. allergies 76 to 98% sensitivity and
29 to 57% specificity.
Figure 14.2.10: Allergy skin testing—Reaction

(Fore arm)
Allergy Skin Testing—Reaction (on the Back)

Highly sensitive site for allergy skin It is very difficult to perform over
testing is back of the body. the back and so next sensitive
portion viz. volar surface of the
forearm is commonly used.
Figure 14.2.11: Allergy skin testing—Reaction

(on the back)

Autologous Serum Skin Test (ASST)
ASST is useful in autoimmune and Autoimmune urticaria treated
chronic urticaria patients who with high doses of antihistamines,
exhibit functional autoantibodies systemic corticosteroids and
against IgE and/or its high-affinity sometimes immunomodulator
receptor FceRI. drugs.
Figure 14.2.12: Autologous serum skin test

(ASST)
Dennis Morgan Folds—Sign of Allergic Rhinitis
Creases in the lower eyelid due to Allergic rhinitis: Mainly by oral

Mueller’s muscle spasm. 2nd generation antihistamines,
One of the sign’s of allergic rhinitis. intranasal steroids.
Figure 14.2.13: Dennis Morgan folds—Sign of

allergic rhinitis
Long Face Syndrome

Constant mouthbreathing causes Laser maxillofacial surgery
unbalanced muscle. performed specially after
Forces, which compresses the upper completion of bony growth helps
jaw, which creates a very high vault the patient.
in the palate and increases the
overall length of the lower face.
Figure 14.2.14: Long face syndrome

Peak Nasal Inspiratory Flow Meter for Assessment of Nasal Obstruction

Portable inspiratory flow meter Recordings over several weeks

can be used to monitor both the provide detailed information about
nasal obstruction and the response changes in the nasal airways, and
to treatment, through objective correlate well with both symptom
assessment of congestion within the scores.
nasal passages.
Figure 14.2.15: Peak nasal inspiratory flow

meter for assessment of nasal obstruction
Technique of Administration of Intranasal Steroids in a Small Child

Nostril of the device to be directed Intranasal steroids forms the corner
into inferior turbinate towards stone of therapy in moderate-to-
outer canthus of the ear and should severe allergic rhinitis.
be directed away from septum to
prevent perforation.
Intranasal steroids recommended
for three months as per the
guidelines.
Figure 14.2.16: Technique of administration of

intranasal steroids in a small child
292
Technique of Administration of Intranasal Steroids in Adolescent

Use right hand for left nostril and Right technique for the right
left hand for right nostril intranasal duration of time helps to prevent
steroids are recommended for the local complications of intranasal
moderate-severe allergic rhinitis and steroids.
blocked nose.
Figure 14.2.17: Technique of administration of

intranasal steroids in adolescent
14.3 COMMON RHEUMATOLOGICAL CONDITIONS

Enthesitis Related Arthritis (ERA)
A preadolescent boy with pain • HLA-B27 and rheumatoid factor

and swelling over left knee and needs to be sent in these cases.
right ankle (insertion of achilles • Treatment options include intra-
tendon)—asymmetrical large joint articular triamcinolone aceto
involvement of lower extremities. nide, use of systemic steroids with
Enthesitis related arthritis. disease modifying antirheumatic
Enthesitis is inflammation of drugs (DMARDs) in resistant
A
attachment of a ligament, tendon, disease.
joint capsule or fascia to bone.
Figures 14.3.1A and B: Enthesitis related arthritis

Photo Courtesy: Vijay Viswanathan, Mumbai
Juvenile Idiopathic Oligoarthritis

A five years old girl unilateral • Ruling out infections, bleeding
large joint swelling for 8 weeks disorders and tumors essential.
with significant wasting of the • ANA (for associated uveitis) and
quadriceps. This is very classical of Rheumatoid factor (RF negative
juvenile idiopathic oligoarthritis. polyarthritis) needs to be investi
gated in these cases.
• Treatment options include intra-
articular triamcinolone aceto
nide, use of systemic steroids with
Figure 14.3.2: Juvenile idiopathic oligoarthritis
DMARDs in resistant disease.
Photo Courtesy: Vijay Viswanathan, Mumbai 293
Juvenile Idiopathic Polyarthritis

A ten years old girl bilateral Rheumatoid factor needs to be sent
symmetrical joint swelling— in these cases (for prognostication).
wrists, knees, ankles and Also aggressive management with
metacarpophalangeal joints steroids, DMARDs (methotrexate,
A B with PIP joints, tenderness and leflunomide) and in resistant
restriction of movements (large and cases, biological agents (anti-TNF
small joints). This is very classical of alpha-agents).
juvenile idiopathic polyarthritis.
C D
Figures 14.3.3A to D: Juvenile idiopathic

polyarthritis
Kawasaki Disease
A seven years old girl with persistent • 2 D echocardiogram always man

pyrexia, tender unilateral cervical datory in investigation.
adenopathy. Examination reveals • Treatment consists of intravenous
the classical strawberry tongue (due gammaglobulin and high dose
to diffuse erythema and prominent aspirin followed by antiplatelet
papillae) and the oral mucositis. doses of aspirin. Resistant cases
Cervical adenopathy with oral may be treated with steroids and/
mucositis (strawberry tongue) form or TNF alpha-blockers.
a part of the criteria for Kawasaki
disease.
Figure 14.3.4: Kawasaki disease

Kawasaki Disease—Erythematous Induration Over BCG

A six months old child with Significance: Incomplete Kawasaki
persistent pyrexia, rash, irritability, disease (KD) does not present with
loose motions. all the criteria. Early diagnosis
Examination reveals mucositis is important as these children
along with an erythematous are more prone to cardiac
indurated BCG scar. This complications. Reactivation of
phenomenon has been ascribed BCG is a rare but specific sign of
to cross-reactivity between KD; hence can be used as a tool for
mycobacterial heat shock protein diagnosing KD.
(HSP) 65 and human homologue
Figure 14.3.5: Kawasaki disease—Erythematous HSP 63.
induration over BCG
294
Side Effect of Prolonged Steroid Therapy—Collapsed Vertebra
A ten years old girl diagnosed with In cases of chronic inflammatory

systemic onset juvenile idiopathic conditions on prolonged
arthritis on prolonged steroid immunosuppression, it is important
therapy. Presented with backache. to rule out complications of therapy.
Imaging reveals a collapsed vertebra Treatment comprises of supportive
secondary to steroid therapy. management, calcium supplements
and bisphosphonates.
Figure 14.3.6: Side effect of prolonged steroid

therapy—Collapsed vertebra
Photo Courtesy: Raju P Khubchandani, Mumbai
Systemic Onset Juvenile Idiopathic Arthritis

A two years old boy presented with • Investigations reveal anemia

persistent pyrexia for four weeks of chronic inflammation, neu
and rash. Examination reveals trophilic leukocytosis and throm
a classical macular evanescent, bocytosis with elevated acute
A B erythematous rash over trunk, phase markers.
extremities and abdomen. (A and B) • Treatment comprises of anti-
Also the quotidian pattern of fever inflammatory agents along with
(C) is specific for systemic onset systemic steroids. DMARDs like
C D juvenile idiopathic arthritis (SOJIA). methotrexate used with moder
Figures 14.3.7A to D: Systemic onset juvenile Associated criteria include ate success in managing arthritis.
idiopathic arthritis lymphadenopathy, organomegaly Anti interleukin-1 and anti-IL6
and serositis—pericardial effusion used in resistant disease.
(D).
Typical Purpuric Rash of HSP

A five years old girl acute onset Usually symptomatic. Steroids
abdominal pain and eruptions over indicated for renal, severe
lower extremities. Examination abdominal/CNS manifestations.
reveals the typical lesions of
Henoch Schonlein purpura on the
lower extremities and buttocks
(dependent area of body). Classic
lesions consist of urticarial wheals,
erythematous maculo papules and
larger, palpable ecchymosis—like
lesions. Petechiae and target lesions
may be present as well.
Figure 14.3.8: Typical purpuric rash of HSP 295

14.4 UNCOMMON RHEUMATOLOGICAL CONDITIONS BUT NOT RARE
Juvenile Dermatomyositis
A five years old with skin lesions Combination of steroids with
since 1 year. Developed muscle disease modifying agents
proximal weakness one year later. (DMARDs) like methotrexate
Gottron’s papules are considered a with hydroxychloroquine.
A hallmark sign of dermatomyositis. Immunosuppression with
Primary lesions consist of cyclophosphamide in cases with
erythematous to violaceous severe organ involvement.
symmetrical papules and plaques
over the extensor surfaces of
metacarpal and interphalangeal
joints and over knees, elbows,
B
and ankles. Secondary changes
Figures 14.4.1A and B: (A) Gottron’s papules; can be present, including scaling,
(B) Dyspigmented lesions over the elbows in the
crusting, erosions, ulcerations or
same patient
Photo Courtesy: Vijay Viswanathan, Mumbai dyspigmentation.
Juvenile Dermatomyositis—Nodular Swellings (Calcinosis)

A ten years old girl diagnosed case Various modalities have been tried,
of juvenile dermatomyositis with bisphosphonates, diltiazem, etc.
nodular deposits. This is a known It is usually resistant to treatment
complication of chronic juvenile modalities. Aggressive disease
dermatomyositis. control reduces chances of
Calcinosis cutis in JDM represents calcification.
a aggressive inflammation with a
delayed diagnoses. It is seen in 40%
Figure 14.4.2: Juvenile dermatomyositis— of cases in the late stages.
Nodular swellings
Juvenile Dermatomyositis—Calcinosis Cutis

X-ray imaging of the same patient Various modalities have been tried,
as in Figures 14.4.2, revealing dense bisphosphonates, diltiazem, etc.
calcium nodules. It is usually resistant to treatment
modalities. Aggressive disease
control reduces chances of
calcification.
A B
Figures 14.4.3A and B: Juvenile

dermatomyositis—Calcinosis cutis
296 Photo Courtesy: Raju P Khubchandani, Mumbai
Juvenile Systemic Sclerosis—“Pursed lip” Appearance

A ten years old girl presented ANA, anti-SCL 70 (specific for
with difficulty in opening mouth, topoisomerase 1) needs to be
progressive deformities of fingers sent. Organ involvement (renal,
and ulcers over bony prominences. pulmonary, cardiac, GI and
The examination reveals the classic neurological) to be ruled out.
“pursed lip” appearance with loss Treated with steroids, DMARDs,
of facial folds and narrow nose, and immunosuppression (organ
shiny skin, with contractures involvement).
and vasculitic ulcers over bony
prominences. The findings are
typical for juvenile systemic
Figure 14.4.4: Juvenile systemic sclerosis— sclerosis.
“Pursed lip” appearance

Juvenile Systemic Sclerosis— Flexion Contractures with Hypopigmentation over Bony Points
Same patient as in Figure 14.4.4. The ANA, anti-SCL 70 (specific for
fingers show a shiny taut skin with topoisomerase 1) needs to be
flexion deformities of the PIP joints sent. Organ involvement (renal,
and shiny hypopigmentation over pulmonary, cardiac, GI and
bony points. The findings are typical neurological) to be ruled out.
for juvenile systemic sclerosis. Treated with steroids, DMARDs,
and immunosuppression (organ
involvement).
Figure 14.4.5: Juvenile systemic sclerosis—

Hypopigmentation over bony points
Juvenile Systemic Sclerosis—Healed Vasculitic Ulcer

Same patient as in Figure 14.4.4. ANA, anti-SCL 70 (specific for
Healed vasculitic ulcer over the topoisomerase 1) needs to be
lateral malleolus with the adjacent sent. Organ involvement (renal,
taut looking shiny skin. The findings pulmonary, cardiac, GI and
are typical for juvenile systemic neurological) to be ruled out.
sclerosis. Treated with steroids, DMARDs,
and immunosuppression (organ
involvement).
Figure 14.4.6: Juvenile systemic sclerosis—

Healed vasculitic ulcer
297
Linear Scleroderma
A eight years old girl presented Management consist DMARDs like
with difficulty in walking with methotrexate with/without steroids.
pain over right ankle over the Intra-articular steroids do benefit in
last three months. Examination localized synovitis.
revealed flesh colored, waxy, shiny
lesion appearing like a broad band
running along the entire extremity
(Fig. 14.4.7A). She had involvement
A B of underlying joint, muscle and
Figures 14.4.7A and B: Linear scleroderma fascia (Fig. 14.4.7B). Interestingly
Photo Courtesy: Vijay Viswanathan, Mumbai the involved ankle also revealed
synovitis.
SLE—“Butterfly” Rash
A 10 years old girl with persistent Anti-dsDNA, other antibodies to

pyrexia, rash, mouth ulcers, extractable nuclear antigens (ENAs)
arthralgias. Examination reveals and urinalysis need to be sent.
the typical malar rash of systemic Organ involvement needs to be
lupus erythematosus sparing the ruled out.
nasolabial folds.
The malar rash of lupus is red or
purplish and mildly scaly having the
shape of a butterfly and involves the
bridge of the nose. Notably, the rash
spares the naso labial folds of the
Figure 14.4.8: SLE—“Butterfly” rash
face. It is usually macular with sharp
edges and not itchy. Rash occurs in
70 to 80% of cases.
SLE—Mucositis Involving Central Hard Palate

Same patient as in Figure 14.4.8, Anti-dsDNA, other antibodies to
10 years old girl with mucositis extractable nuclear antigens (ENAs)
involving the central part of hard and urinalysis need to be sent.
palate—typical feature of SLE. Organ involvement needs to be
ruled out.
Figure 14.4.9: SLE—Mucositis involving

central hard palate
298 Photo Courtesy: Raju P Khubchandani, Mumbai
14.5 MUSCULOSKELETAL SYNDROMES
Benign Joint Hypermobility Syndrome

A five years old girl with aches and Hypermobility (also called
pains over lower extremities. Easy “double jointedness” or
bruisability, frequent falls while hypermobility syndrome, benign
walking, joint hypermobility and joint hypermobility syndrome, or
A B associated high myopia. hyperlaxity) describes joints that
stretch farther than is normal.
Joint hypermobility syndrome
shares many common features
with conditions, such as Marfan
C
syndrome, Ehlers-Danlos
Figures 14.5.1A to C: (A) Typical W sitting
syndrome, and osteogenesis
posture in joint hypermobility; (B) Hypermobile
thumbs; (C) Hypermobile fingers imperfecta. The Beighton scoring
Photo Courtesy: Vijay Viswanathan, system and the Brighton scoring
Raju P Khubchandani, Mumbai system assesses hypermobility and

the benign joint hypermobility
syndrome.
299
Section 15
Adolescent
Health and Medicine
Section Editor
Swati Y Bhave
Photo Courtesy
Abhaya Martin, Anand Galagali, Ashish Kakkar, Harish Pemde, Jayakar Thomas,
MKC Nair, Nitin A Yelikar, Paula Goel, Preeti Galagali, Quresh B Maskati,
Shailaja Mane, Shaji Thomas John, Siddharth S Budhraja, Sonia Kanitkar,
Swati Y Bhave, Tanmaya Amladi, Vaman Khadilkar, Vijay Zawar
15.1 Growing Up Issues

15.2 Systemic Problems
15.3 Miscellaneous
15.4 Community Programs
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15.1 GROWING UP ISSUES
Picture Note
15.1.1 Sexual Maturity Rating (SMR, Tanner’s Staging)

Prepubertal Genitalia—SMR 1
Pubic hair SMR stage 1 (PH1) in boys

• No pubic, scrotal hair growth.
• Normal pigmentation of scrotum and penis.
• Normal small size of penis.
• Testicular volume less than 3 ml.
A B
Figures 15.1.1.1A and B: (A) Prepubertal genitalia boys—SMR 1; Pubic hair SMR stage 1 (PH1) in girls
(B) Prepubertal genitalia girls—SMR 1
Photo Courtesy: Shailaja Mane, Pune No pubic hair growth.

Prepubertal Breasts and Axillary Hair
Prepubertal breasts in girls SMR 1 or B1 stage

• Small areola.
• No secondary mound or nipple prominence.
Axillary hair in girls and boys—SMR stage 1

A B
No hair growth.
Figures 15.1.1.2A and B: (A) Prepubertal breasts girls—SMR 1;
(B) Prepubertal axillary hair—Boys
Photo Courtesy: Shailaja Mane, Pune
Breast Development in Girls—SMR 2 and 3
Breast development in girls SMR 2 (B2): Breast and

papilla elevated as a small mound; areolar diameter
increased.
SMR 3 (B3): Breast and areola are enlarged, no contour

separation.
A B
Figures 15.1.1.3A and B: (A) Breast development in girls—SMR 2;
(B) Breast development in girls—SMR 3
303
Picture Note
Breast Development in Girls—SMR 4 and 5
Breast development in girls SMR 4 (B4): Areola and

papilla form a secondary mound.
SMR 5 (B5): Mature nipple projects, areola part of

general breast contour.
B
Figures 15.1.1.4A and B: (A) Breast development in girls—SMR 4;

(B) Breast development in girls—SMR 5
Axillary Hair Growth in Boys
• Axillary hair development is staged as Ax 0, 1 and 2.

• Axillary hair starts appearing by SMR stage 4.
• Axillary perspiration would start by SMR stage 3 in
boys and girls.
A B
Figures 15.1.1.5A and B: (A) Early axillary hair growth in boys;
(B) Advanced axillary hair growth in boys
Facial Hair Development in Boys
• Hair growth over face in a boy indicates adrenarche.

• Facial hair appears around SMR stage 4 in boys.
• Growth of hair over upper lip, and chin.
A B
Figures 15.1.1.6A and B: (A) Hair development in boys—Prepubertal

facial hair; (B) Early pubertal facial hair in boys
304
Picture Note
Adam’s Apple in Boys
• Growth of hair over upper lip, chin and cheek.

• Prominence of Adam’s apple in boys.
• Voice change starts appearing much after SMR stage
4 and around SMR stage 5.
Figures 15.1.1.7: Adam’s apple in boys

Pubic Hair and Testes in Boys—SMR 4 and 5
SMR stage 4 (G4)

• Testes: Volume 12 to 20 ml.
• Scrotum: Further enlargement and darkening.
• Phallus: Increased length and circumference.
SMR stage 5 (G5)

• Testes: Volume more than 20 ml.
A B
Figures 15.1.1.8A and B: (A) Pubic hair and testes in boys—SMR 4; • Scrotum and phallus: Adult.
(B) Pubic hair and testes in boys—SMR 5 • Pubic and scrotal hair.
Photo Courtesy: Vaman Khadilkar , Pune
15.1.2 Miscellaneous
A Typical Metro Teenager of India
A well-balanced teenager who • Parental counseling required:

is empowered with life skills is adolescents will spend less time
confident has good self esteem with families and more with
and can deal with the transition peers.
period with confidence. Parental • Set firm limits.
communication and rapport is a
• Be empathetic.
very important protective factor
that helps teens to keep away from • Help to develop self-esteem.
the temptation of high-risk taking • Encourage to develop talents and
behavior. interests.
Figure 15.1.2.1: A typical metro teenager of • Solicit their opinions and listen to
India them patiently.
Photo Courtesy: Paula Goel, Mumbai
• Constructive criticism when
305
necessary.
Participation in Sports Important for Teens
Participation in sports is very • Need to monitor for sport doping.

important for all round personality • Coach and peer sexual and emo-
development. It improves their tional abuse.
confidence, grit and sense of
• Ragging.
achievement gives leadership
skills, camaraderie and team work. • Sports injuries can lead to life
Keeps high motivation, keeps them long disability.
involved and away from high-risk • Inability to cope up with failures
behavior. can lead to mental issues.
Figure 15.1.2.2: Participation in sports

important for teens
Photo Courtesy: Paula Goel, Mumbai
Peer Pressure
Protection from negative peer A good communication between

pressure teens and their parents, a sense
• Peers are very important for of belonging to a community and
adolescent development. social circle, strong moral values are
some of the factors that will protect
• Parents should accept the
teens from falling prey to negative
important role of peers in their
peer pressure.
teens life.
• Forcing them away from peers will
result in rebellion and high-risk
behavior .
• Parents should have a strong bond
Figure 15.1.2.3: Peer pressure
Photo Courtesy: Paula Goel, Mumbai with their children that protects
them from negative peer pressure.
AFHS
Informational/educational Establishments of AFHS in public

materials focused at adolescent setup are very important for the
health are also available.ese teenagers who come from the
materials are also used to conduct deprived section of society and
lectures at various institutions. cannot afford to pay for the Teen
To maintain privacy, a screen is clinics in private setups.
A B
kept where the doctor examines the
Figures 15.1.2.4A and B: (A) AFHS at a Govt
patient.
Hospital-1; (B) AFHS at a Govt Hospital-2
Photo Courtesy: Harish Pemde, New Delhi is area is also useful for
conducting psychotherapy like
relaxation, etc.
306
Adolescent Clinic in Private Set-up-1 and 2
• Private consultation room. Since the parents of teens in private

• Young, smiling adolescent- setup can pay the fees, these AFHS
friendly receptionist. can be a state of art, delivering the
best services for teens.
• Comfortable adult—like waiting
area.
A B
Figures 15.1.2.5A and B: (A) Adolescent clinic
• Separate examination area.
in private set-up-1; (B) Adolescent clinic in • Should have female/male
private set-up-2 attendant while examining girls/
Photo Courtesy: Sonia Kanitkar, Bengaluru
boys.
• Adolescent friendly ambience.
• Display board—health messages.

• Educative pamphlets given.
Accessory Nipple
• Otherwise known as ‘polythelia’. • Reassurance.

• Often mistaken for moles. • Very important for Adolescent’s
• Appears along the ‘milk-lines’. body image
• Usually only on one side. • Cosmetic surgery if associated
with fat tissue (pseudomamma)
Figure 15.1.2.6: Accessory nipple

Photo Courtesy: Shaji omas John, Calicut
Corporal Punishment by Teacher
• Spare the rod and spoil the child’ • e teachers should be made
used to be the dictum in schools aware of the consequences of the
in olden days. law.
• But now with the ban on corporal • Children should be encouraged
punishments by the government to do things based on positive
of India (GOI), it is ‘spare the rod reinforcements and ‘rewards’.
or end up in jail’.
• But teachers still do resort to such
measures in many of the schools
Figure 15.1.2.7: Corporal punishment by
teacher
and most of the children silently
Photo Courtesy: Shaji omas John, Calicut endure because they were initially
at fault.
307
Self-in�licted Wounds
• e wounds are of bizarre shapes • Treat the wound with antibiot-

and sizes. ics if indicated or local antibiotic
• Typically they are on the left hand cream/lotion.
in a right handed person and on • Manage the underlying cause
the ventral side of the forearm. counseling.
• Usually by adolescent to take ad-
vantage, by provoking the parents
or teachers.
Figure 15.1.2.8: Self-inflicted wounds

15.1.3 Nutrition
Malnutrition in Adolescent Boy
• During adolescence there is high Anorexia nervosa is characterized

incidence of nutritional deficien- by self starvation through extreme

cies due to poor eating habits. dieting, intense weight loss.
• Most malnutrition is due to pov-
erty and reduced intake.
• Severe metabolic diseases and
chronic illnesses also can lead to
sever malnutrition.
Figure 15.1.3.1: Malnutrition in adolescent

boy
Obesity in a Boy and Girl
• Obesity in children and adoles-

cents has reached alarming levels.
• e prevalence of the metabolic
syndrome increased with the
severity of obesity.
• Obesity, which is the most com-
mon cause of insulin resistance in
children, is also associated with
A B
metabolic syndrome—dyslipi-
Figures 15.1.3.2A and B: (A) Obesity in a boy; demia, type 2 diabetes, and long-
308 (B) Obesity in a girl
term vascular complications.
15.2 SYSTEMIC PROBLEMS
15.2.1 Miscellaneous
Bell’s Palsy Left
• Acute unilateral facial nerve palsy. • Oral prednisolone.

• Not associated with other cranial • Oral acyclovir/valcyclovir if
neuropathies or brain stem dys- indicated.
function. • Physiotherapy.
Clinical features • Ocular lubricants for protecting
• LMN type of palsy. cornea.
• Drooping of corner of mouth.
• Loss of taste on anterior 2/3 of
tongue on involved side.

Figure 15.2.1.1: Bell’s palsy left
Dermatitis Medicamentosa
• Extensive oozing with inflamma- • Antibiotics for the secondary

tion and crusting noted on both infection.
palms and fingers. • Saline compress and local ster-
• Patient had mild contact derma- oids.
titis and indigenous medicines • Management of itching and pain.
were applied.
• Oral steroids if needed.
• Resulted in flaring up of dermati-
• Avoid the offending agent to
tis leading on to systemic symp-
prevent CD.
toms also.
Figure 15.2.1.2: Dermatitis medicamentosa
Xanthoma Tuberosum Right Knee
• Cutaneous manifestation of • Lifestyle modification—Dietary

lipidosis. changes and exercise.
• Xanthoma tuberosum occurs • Statins in high doses, bile acid se-
around the joints. questrants, niacin and ezetimibe
• Accumulation of lipids in large tried.
foam cells within the skin. • LDL apheresis.
• Elevated LDL cholesterol. • Liver transplantation.
• Risk of premature cardiovascular • Porto-caval anastomosis.
and cerebrovascular diseases.
• May be associated with dementia,
ataxia, cataract.
Figure 15.2.1.3: Xanthoma tuberosum right

knee 309
Large Hemangioma
• Hemangiomas usually seen • Usually left alone.
in infancy and they normally • Large ones like these require sur-
resolve by the time they become gical treatment both for cosmetic
adolescents. improvement as well as to prevent
• But large ones like that seen in the complications.
picture can persist and can give • Steroids and laser therapy are
rise to psychosocial issues. tried for smaller lesions.
• Common complications include
ulcerations and bleeding.
Figure 15.2.1.4: Large hemangioma
Photo Courtesy: Shaji omas John, Calicut Pressure effects can be seen
depending on the site. Large
ones can also rarely result in
high output cardiac failures and
thrombocytopenia.
Hypohydrotic Ectodermal Dysplasia

• e most common cause of • Temperature control, prevent

ectodermal dysplasia. hyperthermia.
• Heterogenous group of inherited • Care of the eyes and skin.
disorders. • Oral hygiene.
• Have a reduced ability to sweat
• Management of pharyngitis, otitis
(hypohydrosis). and rhinitis which is very com-
• Sparse slow growing scalp and mon.
body hair (hypotrichosis).
A • Optimize growth and develop-
• Absent teeth (hypodontia) or ment with nutritional support.
malformed small pointed teeth.
• Distinctive facial features of
prominent forehead, thick lips
and flattened bridge.
• Absent hair, absent eyebrows and
eyelashes.
• Lack of sweating.
B • Dry scaly hypopigmented skin.
Figures 15.2.1.5A and B: Hypohydrotic • in wrinkled dark colored skin.
ectodermal dysplasia
Photo Courtesy: Shaji omas John, Calicut • Xerophthalmia/conjunctivitis.
Small Vessel Vasculitis

Causes: Immune complex mediated • Investigate for any specific cause.
(HSP, etc.), ANCA disorders • Oral/IV steroids.
(Wegener’s granulomatosis, etc.),
• Immunosuppressants: Cyclo-
Miscellaneous (Connective tissue
phosphamide, methrotrexate.
disorders, etc.)
Clinical features: Purpura,
petechiae, GI bleed, arthritis,
hematuria, uveitis.
310 Figure 15.2.1.6: Small vessel vasculitis
Photo Courtesy: Shaji omas John, Calicut Pain, tenderness and discoloration
seen in the index case.
Gangrene of Terminal Phalanges
• Gangrene due to small vessel • Steroids.

vasculitis. • Heparin to improve the circula-
• Started as pain and discoloration tion.
of the tips of fingers and toes. • Amputation as a last resort.
• Progressed on to gangrene of • Follow-up.
most of the phalanges.
• Other manifestations of small ves-
sel vasculitis seen later.
Figure 15.2.1.7: Gangrene of terminal

phalanges

Super�icial Abscess
Skin is the most common site of an • Incision and drainage.

abscess; may be superficial or deep. • Pus for c/s
It could extend as in this case, but • Parenteral antibiotics: Staphylo-
get limited by the abscess wall or a coccus aureus is the most com-
capsule. mon organism; hence cloxacillin
Or it could lead on to inflammation is the classical drug of choice.
of the subcutaneous layers also, • Alternatives used with the emer-
resulting in cellulitis. gence of MRSA.
Figure 15.2.1.8: Superficial abscess
15.2.2 Syndromes
Klippel-Trenaunay-Weber Syndrome
• Triad of portwine stain, varicose • Mainly conservative.

veins and bony and soft tissue • Symptomatic when needed.
hypertrophy.
• Pain management.
• Presents at birth or during early
• Antibiotics and analgesics for
infancy or childhood.
cellulitis and thrombophlebitis.
• Usually affects single extremity.
• Anticoagulation if there is throm-
• May involve visceral organs. bosis.
• Major cause of concern in affected • Management of limb hypertrophy
Figure 15.2.2.1: Klippel-Trenaunay-Weber adolescents. and cosmetic correction if
syndrome
Photo Courtesy: Shaji omas John, Calicut possible. 311
• Autosomal dominant. Intestinal • Removal of large and sympto-

hamartomatous polyps. matic polyps.
• Mucocutaneous pigmentation • Treatment of complications like
and melanin spots mostly circu- bleeding.
moral/peribuccal. • Lifelong cancer surveillance.
• Gynecomastia and growth accel-
eration if there is testicular mass.
• High-risk of malignancy.
Figure 15.2.2.2: Peutz-Jeghers syndrome
Marfan’s Syndrome
Adolescents—tall stature and a long, e management is specific to the

thin face with narrowness of the problem they will present with.
maxilla and dental crowding.
Ocular abnormalities reflect the
connective tissue defect and include
blue sclerae, myopia occurring in
60% of affected individuals, and
suspensory ligament laxity with
iridodonesis.
A
Slit-lamp examination—may
disclose lens dislocation.
B
Figures 15.2.2.3A and B: Marfan’s syndrome
Photo Courtesy: Nitin A Yelikar, Pune
312
15.3 MISCELLANEOUS
15.3.1 Dental
Tooth Decay
Dental caries—One of the common • Prevention—Proper cleaning, cor-

problem in adolescence. rection of wrong habits, routine
Improper cleaning, Malaligned dental checkup.
teeth, habits of eating chocolates • Filling of caries teeth with silver
and sweets increase the risk. or ceramic.
Clinical features—Tooth ache, root
• Root cannal treatment for deep
abscess, cellulitis.
caries.
Complications—Risk of bacterial
endocarditis in heart disease • Extraction of caries tooth and
patients. implantation of ceramic tooth.
Figure 15.3.1.1: Toody decay

Photo Courtesy: Shailaja Mane, Pune Can disturb self image and • Fluoride painting of teeth regu-
confidence. larly helps to prevent caries.
Dental Malocclusion Distocclusion
• Improper alignment of teeth can Treatment should be

be due to hereditary causes, hab- individualized.
its like thumb sucking, decay and Most important is prevention where
disease of gums, early loss of milk applicable.
teeth, retained milk teeth, etc. Correction with appliances can be
• Can result in crossbite, overbite started by 12 to 13 years.
and crowding. Surgical correction only after 18
years in females and 20 years in
Figure 15.3.1.2: Dental malocclusion • In the picture there is overbite
males.
distocclusion with minimal retrognathism re-
Photo Courtesy: Shaji omas John, Calicut sulting in distocclusion.
Dental Braces
• To treat malalignment braces or Brushing and flossing every day
other appliances may be used. regular visits to a general dentist.
Metal bands are placed around Plaque accumulates on braces -
some teeth, or metal, ceramic, permanently mark teeth or cause
or plastic bonds are attached to tooth decay if not properly cared for
the surface of the teeth. Wires or Complications
springs apply force to the teeth. • Tooth decay.
• Wires, plates, or screws may be • Discomfort during treatment.
used to stabilize the jaw bone, in
Figure 15.3.1.3: Dental braces • Irritation of mouth and gums
a similar manner to the surgical
Photo Courtesy: Shailaja Mane, Pune (gingivitis) caused by appliances.
stabilization of jaw fracture.
• Chewing or speaking difficulty
during treatment.
• Treatment is most successful in
children and adolescents because
their bone is still soft and teeth
are moved easily.
• Treatment may last 6 months to 2
or more years, depending on the
313
severity of the case.
Simple Front Tooth Fracture
Such teeth do not require a root Management is conservative.

canal therapy. Includes: Pulp capping and esthetic
bonding with composite resins to
restore form and function.
Figure 15.3.1.4: Simple front tooth fracture

Photo Courtesy: Ashish Kakkar, New Delhi
Trauma to Front Tooth
Since no treatment was initiated, the Early treatment should be initiated

front left incisor tooth has become which involves root canal treatment
nonvital and looks dark. of the involved tooth.
is has various implications such
as formation of periapical lesions
like granulomas and cysts.
Figure 15.3.1.5: Trauma to front tooth

Tooth Jewelry—Upper Lateral Incisor
Tooth jewelry was used since Potentially there is no harm to

ancient times but now it has revived the tooth surface but extra care is
as a latest fashion craze. needed to make sure that the area
Tooth jewel made of gems or is kept clean of all food debris after
diamond is cemented on the tooth meals to prevent caries around the
surface through a simple procedure. bonded enamel surface.
e design can be changed several
times as desired, or can be brought
back to original smile.
Figure 15.3.1.6: Tooth jewelry—Upper lateral
incisor
314 Photo Courtesy: Ashish Kakkar, New Delhi
Guthaka and Pan Stains

Very commonly seen in adolescents. • e use of tobacco has to be
A growing habit in India especially stopped. Cleaning of the teeth has
among youngsters! to be done.
• ill effects include stains on teeth. • Treatment has to be given for the
• loss of tooth enamel due to wear. gingivitis and periodontitis.
• development of gingivitis and • Referred to a oral cancer sur-
periodontitis. geons for specific management as
needed.
• submucous fibrosis.
• hyperkeratosis of the oral mucosa.
Figure 15.3.1.7: Guthaka and Pan stains
Photo Courtesy: Ashish Kakkar, New Delhi • oral squamous cell carcinoma.

Loss of Teeth After Accident
Adolescents are involved in high- • Loss of teeth specially the front
risk behavior. is often leads to teeth can cause lot of embar-
accidents and injuries. rassment to a adolescent. If not
Participation in sports also can replaced in time this can affect
cause trauma to teeth. their self esteem.
• ey can be replaced by dental
bridges.
• If the parents can afford it the best
treatment is dental implants.
Figure 15.3.1.8: Loss of teeth after accident
X-ray Shows Fracture on Upper Central Incisors
Fracture of the incisor is below the Extraction and replacement is the

crest of bone rendering the teeth only option.
nonsalvageable.
Figure 15.3.1.9: X-ray shows fracture on upper

central incisors
Photo Courtesy: Ashish Kakkar, New Delhi 315
Fragments of Extracted Tooth
Fracture of the incisor is below the Extraction and replacement is the

crest of bone rendering the teeth only option.
nonsalvageable.
Figure 15.3.1.10: Fragments of extracted tooth

Picture of the Gums Showing Dental Implant

Extraction of the fractured root • After extraction there is place-
fragments. ment of the dental implants.

• Later the crown is fitted on the
implants.
Figure 15.3.1.11: Gums showing dental

implant
X-ray—Dental Implant
is is an X-ray of the implants Once the implants are well fitted,
done. is is necessary to check they are covered with a crown.
the position of the implants before
fitting the crown.
316 Figure 15.3.1.12: X-ray—Dental implant

15.3.2 Ophthalmology
Hypopyon
Pus or leukocyte exudate in anterior Treat the underlying cause

chamber of eye. parenteral antibiotics.
Causes include corneal ulcer esp.
fungal, Behcet’s disease,
endophthalmitis, panuveitis,
panophthalmitis.
Seen as yellowish exudate in lower
part of anterior chamber of eye,
with conjunctival congestion and
Figure 15.3.2.1: Hypopyon anterior uveitis.

Sectoral Heterochromia
Heterochromia refers to a difference • Nothing need be done.

in color. • Reassurance needed.
Left eye is normal in color. • Adolescents may take it as mark
Right eye has hypopigmented of beauty.
streaks at the 4 o’clock and 8 o’clock • But if unduly concerned contact
positions. lenses may be used with any color
Figure 15.3.2.2: Sectoral heterochromia When part of the iris is colored of their choice.
Photo Courtesy: Shaji omas John, Calicut differently it is known as partial or
sectoral heterochromia.
Malignant Melanoma
Very aggressive tumor of eye can • Small melanomas—laser, brachy-
affect several parts of eye—most therapy, radiotherapy.
common choroid layer. • Enucleation.
Could be asymptomatic can present
• Chemotherapy.
with bulging eyes, change in color
of iris, poor vision, red painful eye,
defect on iris or conjunctiva.
Figure 15.3.2.3: Malignant melanoma 317

Bitot’s Spots—Vitamin A De�iciency-1
Night blindness—Earliest symptom. Prophylaxis with mega vitamin A

Eye changes—Xerophthalmia, Bitot’s doses for children under five in
spots, corneal xerosis, ulceration, our public health programs has
xerophthalmic fundi. reduced the incidence of severe
vitamin A deficiency and associated
Skin changes—Dry, scaly, hyper-
blindness.
keratotic patches, commonly on the
arms, legs, shoulders, and buttocks.
Figure 15.3.2.4: Bitot’s spots—Vitamin A

deficiency-1
Bitot’s Spots—Vitamin A De�iciency-2
In urinary bladder, loss of epithelial Health education creating

integrity—pyuria and hematuria. awareness of the need of vitamin
Epithelial changes—In respiratory A in our daily diet and use of
system-bronchial obstruction. supplement wherever needed will
prevent this condition.
Figure 15.3.2.5: Bitot’s spots—Vitamin A

deficiency-2
Photo Courtesy: Siddharth S Budhraja, Pune
318
Allergic Conjunctivitis-1
In India, allergic conjunctivitis is • Local hygiene and prevention of

present almost throughout the year, rubbing of eyes.
unlike its predilection for spring in • Local antihistaminic drops for
temperate countries. symptomatic relief.
Primary symptom is itching in eyes.
• Mast cell stabilizer drops for long-
Watering, discharge and redness
term desensitization.
are accompanying symptoms. e
A presence of papillae, either on inner • Local steroids are used in re-
surface of eyelids or around the fractory cases. ey are given in
limbus clinches the diagnosis. pulsed doses with caution as they
It is a type IV hypersensitivity may cause dependence, dryness,
response to external antigens like cataracts and glaucoma.
house dust, mites, pollen, etc.

B
Figures 15.3.2.6A and B: (A) Allergic

conjunctivitis—Confluent papillae at limbus
(B) Palpebral allergic conjunctivitis—Giant or
cobblestone papillae
Photo Courtesy: Quresh B Maskati, Mumbai
Keratoconus—Munson’s Sign—Causing Bowing of the Lower Eyelid on Looking Down
Keratoconus is a degenerative Early keratoconus are managed

condition of the cornea, typically with spectacles; later they may
manifesting in late teens. require special contact lenses such
Only 20% of the cases are as ‘semisoft’ or ‘piggyback lenses’.
progressive. ose intolerant to these may be
It is suspected when the patient is fitted with custom made lenses such
unhappy with quality of vision with as the ‘Rose K design’ or large contact
spectacles or has marked changes lenses sitting away from the cornea
in spectacle prescription every known as ‘scleral lenses’. Progress
few months or suddenly develops can be halted by a procedure called
Figure 15.3.2.7: Keratokonus—Munson’s
contact lens intolerance. ‘collagen cross linking’ in which the
sign—causing bowing of the lower eyelid on In rare cases there can be splitting bonds between the collagen bundles
looking down of the stromal layers due to too in the stroma is strengthened with
Photo Courtesy: Quresh B Maskati, MumbaI much stretch, causing ‘hydrops’ riboflavin drops exposed to UV light.
with formation of an opacity at the In advanced cases, the cone may be
apex of the cone. flattened by inserting plastic pieces in
the periphery of the cornea. Corneal
grafting surgery is the last option.
319
LASIK Surgery
Spectacle number removal. Painless • A partial thickness flap is lifted
procedure done under topical with a keratome.
(eye drop) anesthesia to remove • Excimer laser is applied in a pat-
spectacle numbers in myopia, tern controlled by a computer in
hypermetropia and astigmatism. which the patient’s data has been
Patient should be above 18 years fed.
and have stable refraction since past
• e flap is reposited back and the
one year.
other eye is similarly done.
Prior topography and pachymetry is
a must to rule out keratoconus and • Postoperative the patient is put
abnormally thin corneas which are on a short course of antibiotic
Figure 15.3.2.8: LASIK surgery +steroid +lubricant eye drops for
Photo Courtesy: Quresh B Maskati, Mumbai contraindications.
Wearing of contact lenses is a couple of weeks.
discontinued at least a week prior. • Patient can resume all activities
within 24 to 48 hours.
Cosmetic Contact Lenses—Diamond and Gold Embedded in Cosmetic Scleral Contact Lens
• For the fashionable adolescent, a • Like with any CL, proper hygiene
wide variety of cosmetic contact and optimum wearing time rules
lenses (CL) are available. need to be observed. It can carry
• e usual cosmetic CL are soft risk otherwise.
lenses available over the counter • Since these are purchased in most
and come in various colors and cases off the shelf, these instruc-
designs such as various country tions are often not given to the pa-
Figure 15.3.2.9: Cosmetic contact lenses— flags, etc. tient by the shop owner, resulting
Diamond and gold embedded in cosmetic in needless complications.
scleral contact lens
• e latest cosmetic CL are large
Photo Courtesy: Quresh B Maskati, Mumbai scleral lenses with either dia- • Any drop in vision, redness or wa-
monds or gold embedded in the tering after wearing these lenses
substance. ese are custom should warrant an emergency
made and can incorporate the visit to an ophthalmologist.
wearers refractive error as well.
320
15.3.3 Body Piercing and Tattooing

Piercing of Ear
Body piercing, a form of body Needed only if there are
modification practice of puncturing complications of the piercing.
or cutting a part of the human
body, creating an opening in which
A jewelry may be worn.
Ears are pierced—commonly at one
or even at multiple sites.
Different types of ornaments are
used to wear at different sites.
B
Figures 15.3.3.1A and B: Piercing of ear


Ear Perichondritis
Secondary infections after • In early course, systemic medical
unhygienic ear piercing is a treatment consisting of analgesics
common finding, especially when and antibiotics are helpful.
done by nonmedical persons. • Surgical treatment may be re-
Cellulitis of pinna and suppuration quired.
if not treated in time, may lead to
• Health education, early diagno-
suppurative perichondritis, which
sis and treatment are generally
often presents as pain and swelling
helpful.
in the area of helix of pinna.
Figure 15.3.3.2: Ear perichondritis

Photo Courtesy: Vijay Zawar, Nashik
Ear Contact Dermatitis
Ear contact dermatitis due to • Avoid nickel in pseudo-jewelry.

cheap imitation jewelry. Patients • Use metals with less known sensi-
with known sensitivity to nickel or tivity such as gold or silver or even
related metals in ear rings are often stainless steel ear studs.
at the risk of contact dermatitis,
• Treatment is with topical steroids
especially during summer months
and antihistamines.
and in the patients who sweat a lot.
Nickel ions leach during sweating
and can cause discomfort due to
contact dermatitis.
Figure 15.3.3.3: Ear contact dermatitis

Photo Courtesy: Vijay Zawar, Nashik 321
Piercing of Nose
Nose piercing remains customary Tools used for piercing—needles,

for Indian Hindu women of gun, canula, punch, forceps, etc.
childbearing age to wear a nose Complications: Allergic reactions,
stud, usually in the left nostril. infections, keloid formation.
Other sites—Lips, nipple, navel and
genital piercing, cheeks, etc.
Figure 15.3.3.4: Piercing of nose

Body Tattoo
A tattoo is a permanent marking Management will depend upon

made by inserting ink into the the specific treatment for the
skin primarily used for cosmetic, complications below:
sentimental or religious reasons. • Unhygienic tattooing can result
Preferred as a form of identification, in transmission of infections like
especially in incarcerative set-ups, HIV, Hepatitis B and C, etc.
as the tattoo pigment is buried deep • It can also lead to bacterial sepsis
within the skin and is usually not and keloid formation.
destroyed even by severe burns.
Figure 15.3.3.5: Body tattoo
Tattoo Initials
A Putting the initials of the romantic In today’s era removal of the tatoo
partner is a age old practice. if the relationship breaks off is an
important aspect. e tatoo removal
is expensive and can result in keloid
formation.
Figure 15.3.3.6: Tattoo initials

322
Modern Teen Tattoo

Teens tattoo their body to: Precautions:
Enhance beauty of the body. • Use a disposable needle which
Sex appeal. is heated to red hot before it is
Memory of a loved one. cooled and used for tattooing.
Expressing faithfulness to a loved • Do not share needles.
one. • Wash the skin with soap and dry it
Macho image in males. with a clean cloth before tattooing.
Peer pressure. • Dab bleeds during tattooing with
sterile cotton.
Poor self image—it is said that if
there are more than 3 tattoos—the • If required spread an antiseptic
person has a poor self-image. cream over the tattoo after it is
done.

Figure 15.3.3.7: Modern teen tattoo
• Use clean washed clothing after
Photo Courtesy: Tanmaya Amladi, Mumbai completion of tattooing procedure.
• Get a small tattoo on an area
which is not visible when clothed,
to check if the body and skin ad-
justs well to it.
• Overexposure to sun may cause
fading away of the tattoo.
Removed Tattoo
Erasing a tattoo is not an easy job. • Scarring, pigmentary changes,

is has been done with the help of keloid formation are adverse
Q-switched NdYag Lasers. effects by other methods than
lasers.
Multiple sittings are required.
• Hence, the latter are preferred
Before advent of lasers, the different
these days.
modalities used were dermabrasion,
salabrasion, surgical excision and
grafting, electrocauterization,
Figure 15.3.3.8: Removed tattoo cryotherapy.
Photo Courtesy: Vijay Zawar, Nasik
323
15.3.4 Adolescent Dermatology and Sexually Transmitted Disease (STD)

Dandruff
Dandruff is probably the most ere is no permanent cure

common scalp problem for the and regular treatment may be
adolescents with lots of white flakes required for years. Since there
coming out, with hair fall causing is an association of fungus,
self-esteem problems. dandruff—shampoo containing;
Dandruff has been associated with; selenium sulfide, zinc pyrithione,
ketoconazole, terbinafine, etc. is
• skin oil commonly referred to as
recommended and in extremely
sebum or sebaceous secretion.
severe cases systemic steroids and
• the metabolic by-products of skin isotretinoin may be indicated.
Figure 15.3.4.1: Dandruff microorganisms (most specifically
Photo Courtesy: MKC Nair, Malassezia yeasts.
iruvananthapuram
• individual susceptibility with pos-
sible psychological overlay.
Mobile Phone Dermatitis—Hand

Cell phone usage has increased A patch testing may be done to
among teenagers. identify the allergen.
Constant cell phone usage can
induce allergic contact dermatitis
at the points of contact with the
gadget.
is is a photograph of the hand
having contact dermatitis.
Figure 15.3.4.2: Mobile phone dermatitis—

Hand
Photo Courtesy: Abhaya Martin, Calicut
Mobile Phone Dermatitis—Ear

e allergen is very often the nickel • e patient has to stop using
plating done on the phones. is the phone and switch to an-
nickel leaches out on sweating and other handset that does not leach
leads to contact allergic dermatitis. nickel.
• e standard treatment for con-
tact dermatitis has to be given for
the affected parts.
Figure 15.3.4.3: Mobile phone dermatitis—Ear

324 Photo Courtesy: Abhaya Martin, Calicut
Contact Allergic Dermatitis to Footwear

Footwears are a major cause of • e patient has to stop wearing
contact allergy. the footwear that has caused this
Newer trends in fashionable problem.
footwear and the use of synthetic • Patch testing with a footwear
chemicals in its manufacture have series is appropriate in this group
led to increasing number of cases of of patients to identify the offend-
contact allergy to footwear. ing agent.
Fashion statements among
teenagers and peer pressure force
teenagers to try out new fanciful
Figure 15.3.4.4: Contact allergic dermatitis to
footwear.
footwear

Hair Perming
Hair grooming fads have become • is may be an important cause
the norm among teenagers. of lusterless hair and hair fall.
Hair straightening, hair curling, hair • e patient has to be explained
weaving and perming may cause the cause and advised to stop do-
chemical induced damage to the ing repeated perming.
hair shaft.
Figure 15.3.4.5: Hair perming

Hair Gel
Hair gel is very often used by todays • is may be an important cause
teenagers to enable the hair to be of lusterless hair and hair fall.
styled in different ways and stay the • e patient has to be explained
same for a long time. the cause and advised to stop
using gel completely or have
restricted use at least.
Figure 15.3.4.6: Hair Gel

Photo Courtesy: Abhaya Martin, Calicut 325
Sequelae of Acne—Scarring
Scars occur due to profound Dermatosurgical options are
inflammation in the pilosebaceous needed in the management of
unit. acne scars and may include—
More often seen in patients with subscission, discission, punch
nodulocystic acne. floatation, microdermabrasion and
chemical peels.
Scars may be classified as ice-pick
scars, box scars, linear scars, etc.
Classifications have bearing on
treatment options.
Figure 15.3.4.7: Sequelae of acne—Scarring

Sequelae of Acne—Pigmentation
Acne in some individuals may Demelanising agents—

leave behind sequelae like post- hydroquinone, kojic acid, arbutin,
inflammatory pigmentation (PIH). glabridin.
Teenagers presenting with acne and Procedures: Chemical peels with
PIH need empathetic management. glycolic acid.
Pathogenesis: e pigmentation is
most often dermal and may have a
bluish-black discoloration.
Differentials:
• Minocycline induced bluish-
black pigmentation
• Acne excorie de juvenilis
• Lichenoid dermatitis and lichen
planus.
Treatment options:
• Demelanising agents—hydroqui-
Figure 15.3.4.8: Sequelae of
none, kojic acid, arbutin, glabri-
acne—Pigmentation din
Photo Courtesy: Abhaya Martin, Calicut • Procedures—Chemical peels with
glycolic acid.
326
Hidradenitis Suppurativa
Disease of the apocrine glands now • Difficult to treat due high rates of
termed acne inversa. recurrence.
Exacerbates in pubertal age group • May be associated with Acne con-
and in the reproductive age. globata and pilonidal sinus and
Presents as nodular and cystic such a presentation is called Triad
painful eruptions in the axillae, of Pillsbury.
groin and perineal region lesions
may rupture to form discharging
sinuses.
Figure 15.3.4.9: Hidradenitis suppurativa

Prurigo Nodularis
A psychocutaneous disorder seen • Counseling.
very often in adolescents. • Psychiatric assessment.
A deep underlying and persistent • Topical and intralesional steroids
stress is usually the cause for this may be warranted to relieve the
ailment. intense desire to itch.
e lesions are usually
hyperpigmented and lichenified
papulonodular eruptions over easily
accessible sites like extremities.
ey start as itchy areas (most
Figure 15.3.4.10: Prurigo nodularis often)over points of insect bites and
Photo Courtesy: Abhaya Martin, Calicut are repeatedly scratched to cause
thickening and lichenification.
Becker’s Nevus
is hyperpigmented nevus is well Management depends upon the
known to exacerbate and enlarge complications. It should be left
in pubertal period and continues alone if there are no complications.
to enlarge through the adolescent
period.
e nevus is benign but may
develop secondary changes like
acne—like eruptions and hair
growth, ipsilateral breast hypoplasia
and aplasia of pectoralis muscle.
Figure 15.3.4.11: Becker’s nevus 327

Condyloma Acuminata
Sexually transmissible diseases Treatment options include:
are increasingly being recognized • Podophyllin in 25% tincture
among teenagers. benzoin.
Unsafe sexual practices put the • Trichloroacetic acid.
adolescent at risk of developing
• Imiquimod.
infections like HPV induced genital
warts. • Radioand.
HPV 16 and 18 serotypes are
important as they may predispose
to malignant transformation
Figure 15.3.4.12: Condyloma acuminata (carcinoma cervix).
Molluscum Contagiosum
An adolescent with dome shaped, First rule out HIV and other STIs.
pearly white, discrete umbilicated Manual removal wherever possible.

papules.
In younger children, topical: reti-
Perilesional eczema, secondary noic acid 0.025 to 0.1%, KOH 10%,
bacterial infection, and spread of imiquimod1-5%, flexible collodion
infection by Koebner’s phenomenon – 17% salicylic acid and 17% lactic
are common complications. acid are useful. Electrocautery,
is patient gave history of sexual liquid nitrogen cryotherapy. In
exposure. older children. Ritonavir, cidofovir,
Figure 15.3.4.13: Molluscum contigoisum zidovudine are found to be useful.
Photo Courtesy: Jayakar omas, Chennai
15.3.5 Subsection Orthopedic
Adolescent Scoliosis
Scoliosis is lateral curvature of spine • Twenty three teens present with
>10 degrees on X-ray Spine PA view. back pain.
More common in girls, 3 to 5% of • Maximum progression occurs in
adolescent girls have scoliosis out of periods of rapid growth in SMR
these only 15% need treatment. stages 2 to 3 in girls and 3 to 4 in
Most common cause is idiopathic boys.
scoliosis probably caused due to • Long-term sequele of untreated
genetic and hormonal factors. Other severe scoliosis include chronic
causes include structural defects back pain, arthritis, poor body
and neuromuscular diseases. image and cardiorespiratory
compromise.
Figure 15.3.5.1: Adolescent scoliosis

Photo Courtesy: Preeti Galagali, Bengaluru
328
Adolescent Scoliosis—Adam’s Test

Forward bending test of Adams. • Depends on degree of curvature,
e patient in a standing position rate of growth, associated symp-
is asked to bend over 90 degrees or toms and patient compliance.
more with arms hanging downward Close follow-up is required.
in a relaxed position, elbows • No treatment is indicated for
extended and palms together. adolescents who have completed
e forward bending test assesses their growth (SMR stages 4 to 5)
spinal flexibility and asymmetry of with asymptomatic and cosmeti-
thoracic/lumbar spine. cally acceptable curves of < 20
Figure 15.3.5.2: Adolescent Scoliosis—Adam’s
test degrees and no indication of
Photo Courtesy: Anand Galagali, Bengaluru underlying neurologic or muscu-
loskeletal disease.

• Immature adolescents (SMR
stages 2 to 4) with <25 degrees
may not need treatment but
require close follow-up with
periodic clinical and radiographic
assessment according to the fol-
lowing schedule:
• <15 degrees—follow at 6 to 12
months
• 15 to 20 degrees—follow at 5 to 6
months
• >25 degrees—follow at 4 months
• Curves >30 degrees, rapidly
progressive curves, symptomatic
curves with cardiorespiratory
compromise, structural vertebral
defects require surgical
intervention.
329
X-ray Scoliosis Cobb’s Angle

X-ray spine—Left thoracolumbar • Curves <30 degrees at skeletal
scoliosis from T10 to L4. maturity do not show progres-
Cobb’s method is used to measure sion.
curves. Straight lines are drawn from • Curves >30 degrees or rapidly in-
the top of the uppermost vertebrae creasing curves need orthopedic
of both the thoracic and lumbar management in form of bracing
curves. Perpendiculars are then and/or surgery.
drawn from thoracic and lumbar
lines. e acute angle of intersect of
these perpendiculars is taken as the
degree of scoliosis.
Figure 15.3.5.3: X-ray scoliosis Cobb’s angle

Photo Courtesy: Anand Galagali, Bengaluru
Tuberculous Dactylitis
Dactylitis is inflammation of e management is giving
phalanges. treatment for the underlying cause,
It presents with pain, swelling in this case antituberculosis drugs.
and restriction of movement of
interphalangeal joints seen in sickle
cell anemia, enchondroma, juvenile
idiopathic arthritis, psoriasis,
gonoccocal and tubercular arthritis.
Figure 15.3.5.4: Tuberculous dactylitis

Photo Courtesy: Preeti Galagali, Bengaluru
X-ray—TB Dactylitis
is is a X-ray of a hand showing to Repeat X-ray should be taken at the
filling defects in the phalanges due end of the drug treatment to see the
to tuberculosis. healing.
Figure 15.3.5.5: X-ray—TB dactylitis

330
Osteochondritis Dessicans Presurgery MRI Scan-1

13-year-old girl presented with • Rest and analgesics to allow for
acute pain and swelling of the knee healing over 8 to 12 weeks.
joint following a twisting injury • Poor response to conservative
while performing Bharatnatyam treatment should prompt an early
Dance. referral to Orthopedic Surgeon for
On examination—Restricted surgery.
movements of the knee joint with
• Surgery entails arthroscopy to
hemarthrosis
identify and grade the lesion. Mild
MRI Scan—Well demarcated
A cases are treated with fixation
radiolucent area on the medial
with bioscrews and the severe
condyle.
ones require microdrilling with
• Important cause of anterior knee
cartilage transfer.
pain, limitation of movement

and effusion in adolescents.
Characterized by delamination of
subchondral bone.
• Exact etiology not known,
probably due to overuse or local
B vascular insufficiency.
Figures 15.3.5.6A and B: Osteochondritis • Complication: Intrarticular loose
dessicans presurgery MRI scan-1 body, locking of knee joint, early
arthritis.
• CT and MRI scan are done to
confirm diagnosis and rule out
meniscal and intra-articular
ligament tear.
Cervical Rib
Arises from the 7th cervical vertebra • Confirmation by X-ray.
1 in 500 incidence. • Reassurance.
Usually unilateral, rarely seen on
• Excision of the rib if there is vas-
both sides.
cular compromise or neurological
Can result in ‘thoracic outlet
problem.
syndrome’.
Numbness or weakness of the
hand especially on abduction and
external rotation of shoulder may be
Figure 15.3.5.7: Cervical rib the earliest symptom.
331
15.4 COMMUNITY PROGRAMS
Pranayama-1
Due to fierce academic competition, • Learning to coping with emotions

todays Indian teens are under and stress will keep adolescents
tremendous stress and often away from substance abuse and
manifest with stress related physical mental problems like depression,
and mental symptoms. aggression and violence adoles-
cents need to be taught stress
management.
• Yoga and pranayama are good
methods.
Figure 15.4.1: Pranayama-1
Photo Courtesy: Swati Y Bhave, New Delhi
Stress Management—Relaxation
Learning to de-stress and handle is is a session to teach meditation

stress in their life in a positive to teenagers.
manner is a important skill for
adolescents.
ere are various techniques
for relaxation like meditation,
progressive muscular relaxation,
etc.
Figure 15.4.2: Stress management—Relaxation

Health Education for Teens
is is a poster competition for Poster competitions for teens.

tobacco or health. On various health issues are a
Health Quiz are also good ways of very good methodology to create
educating teens. awareness and give information and
also bring out creativity.
332 Figure 15.4.3: Health education for teens

Parenting Workshops—Role Play
Interactive workshops are a very Giving them case scenarios and

good way of teaching parenting asking them to do role plays to
skills and giving them insight into highlight various issues are a
adolescent issues and the skills to practical way of learning.
deal with them.
Figure 15.4.4: Parenting workshops—Role play


Parenting Workshops—Stress Management
Parents of teenagers are often Coping with their own stress is

extremly stressed out due to their equally important for parents and
own middle age related problems pranayama and yoga can be taught
and find it difficult to cope up with in these workshops.
teenage issues.
Figure 15.4.5: Parenting workshops—Stress

management
Orientation Program for Teachers and Parents—Adolescent Development
Orientation programs for parents Attending such programs helps the

and teachers on adolescent parents to understand that all teens
mental, physical and psychosocial have similar problems and they
development are very important for need to develop better parenting
then to understand and improving skills to deal with them in a positive
communication with teens. and healthy manner.
Figure 15.4.6: Orientation program

for teachers and parents—Adolescent
development
333
Orientation Program for Teachers and Parents—Suicide Prevention
Teenage suicides are on the rise Suicide prevention sessions are

in India. e common causes are important for parents to understand
academic failure and rejection and depression and flag signs of suicide
failures in romantic relationships. attempts.
Figure 15.4.7: Orientation program for

teachers and parents—Suicide prevention
With Special Adolescents (Mentally Challenged)
Adolescent nursing students seen Encourage interactions with

with early adolescent mentally adolescents with special needs.
challenged children in a juvenile Normal adolescent children should
home. be sensitized on the status of their
An enlightening and educative lesser privileged counterparts.
interaction for them. Such interactive programs help
A recreational outing and a training both these groups of children.
session for the early adolescents
with special needs.
Figure 15.4.8: With special adolescents
(Mentally challenged)
School Counseling
School counseling focuses on e school counselor serves as a

the relations and interactions leader as well as an effective team
between students and their school member working with teachers, and
environment to reduce the effects empowers families to act on behalf
of environmental and institutional of their children by helping parents
barriers that impede student and guardians identify student
academic success. needs and interests, and access
e counselor assists students in available resources.
their academic, career, social, and
Figure 15.4.9: School counseling personal development and helps
334 Photo Courtesy: MKC Nair, them follow the path to success.
iruvananthapuram
Adolescent Friendly Health Services in the Rural Set-up

Adolescent friendly health services Adolescent friendly health services
(AFHS) is one that is accessible, must meet the needs of rural
acceptable, equitable, inclusive, children between 10 and 19 years
comprehensive in nature and with sensitively and effectively. Such
friendly staff. In the rural setting. services deliver on the rights of
adolescents and represent an
efficient use of precious health
resources.
Figure 15.4.10: Adolescent friendly health

services in the rural set-up
Photo Courtesy: MKC Nair,
iruvananthapuram

Oath to Prevent Sexual Abuse-1
One of the effective strategy to e school children are made to

reduce sexual abuse among take the oath “I am the custodian
adolescent children is to empower of my mind, body and spirit—I will
them to protect themselves. protect, preserve and enhance it”.
Figure 15.4.11: Oath to prevent sexual abuse-1

iruvananthapuram
Oath to Prevent Sexual Abuse-2
One of the effective strategy to Wearing a badge saying the same

reduce sexual abuse among in the school assembly. ey
adolescent children is to empower will continue to wear the badge
them to protect themselves. throughout the day, creating
discussion points with peers and
parents.
Figure 15.4.12: Oath to prevent sexual abuse-2

iruvananthapuram
335
School Health Check-up Dental Examination
School health check-ups are very School health check-up should

important for teens. ey help to include immunization status:
identify health problems that can • Weight
have long-term adverse health
• Height
effects. ey also serve to monitor
the growth and health progress of a • Blood pressure
teen and decide appropriate referral • Hemoglobin
for timely treatment. • Goiter
• Dental caries
Figure 15.4.13: School health check-up dental
examination • Headache
Photo Courtesy: MKC Nair, Tiruvnatanapurum • Vision
• Hearing
• Menstrual problems
• Polycystic ovary disease
• Genitourinary infections
• Medical problems
• Behavioral problems
• Anxiety
• Depression
• Suicidal ideation
• Any other (specify).
School Health Check-up ENT Examination
ENT examination of a teen being ENT examination is very important

done in a health camp. as defective hearing may affect the
academic performance and also the
personality development of a teen.
Figure 15.4.14: School health check-up ENT

examination
Photo Courtesy: MKC Nair, Tiruvnatanapurum
336
Section 16
Child Abuse, Neglect
and Child Labor
Section Editor
Meenakshi Mehta
Photo Courtesy
Meenakshi Mehta
16.1 Child Abuse and Neglect

16.2 Child Labor
Section Outline
16.1 CHILD ABUSE AND NEGLECT 339 16.2 CHILD LABOR 347
♦ Rat Bite in an Abandoned Newborn 339 ♦ Child Labor: Children Working in Different Industries 347
♦ Abandoned Newborn with Rat Bite Marks 339 ♦ Child Labor: Children Working in Different
♦ Child Neglect: Rat Bite 339 Industries 347
♦ Severe Abuse—Physical, in a Child Employed as ♦ Child Labor: Girl Carrying Stone on Head 347
Domestic Servant 340 ♦ Child Labor: Boy Working in Puffed Rice Factory 348
♦ Physical Abuse in Two Sisters 340 ♦ Child Labor: Boy Working on Street Pot Hole 348
♦ Child Abuse: Physical, Beaten by her Employer 340 ♦ Child Labor: Boy Crushing Stones 348
♦ Sexual Abuse: Three Years Old Girl, “Raped” by Father’s ♦ Child Labor: Children Working in Brick-Kiln 349
Employee 341 ♦ Child Labor: Boy Fixing Screws on a Machine 349
♦ Sexual and Other Abuses in Children, India—Statewise ♦ Child Labor: Children Carrying Heavy Loads/Bricks/
2010 341 Stones on Head 349
♦ Child Sexual Abuses in Children Statewise Data, ♦ Child Labor: Child Working in Mines 350
2010 341 ♦ Child Labor: Girl Carrying Earthen Pots 350
♦ Child Sexual Abuse 342 ♦ Child Labor: Girl Selling Flowers, Garlands 350
♦ Child Abuse: Abandoned Newborn with Congenital ♦ Child Labor: Child Carrying Stones 351
Anomalies 342 ♦ Child Labor: Child Carrying Cowdung Cakes 351
♦ Abandoned Newborn with Marasmus 342 ♦ Child Labor: Child Working in Garage 351
♦ Child Abuse: Abandoned in Pediatric Ward 343 ♦ Child Labor: Child Working in Mirchi Field 352
♦ Child Abuse: Child Used for Entertainment 343 ♦ Child Labor: Boy Working in Tea Stall 352
♦ Child Abuse: Girls Used for Entertainment 343 ♦ Child Labor: Boy Working in Tea Stall 352
♦ Child Abuse: Entertainment (Girl Walking on ♦ Child Labor: Boy Working in Tea Stall 353
Rope) 344 ♦ Child Labor: Child Working in Workshop/Factory 353
♦ Child Abuse: Entertainment (Boy Climbing on ♦ Child Labor: Young Boy Working at Construction
Pole) 344 Site 353
♦ Child Abuse: Entertainment (Self-Employed) 345 ♦ Child Labor: Child Selling Earrings 354
♦ Child Abuse: Alcohol Abuse/Child Neglect 345 ♦ Child Labor: Children Cleaning Utensils 354
♦ Child Neglect: Burns Due to Maternal Neglect 345 ♦ Child Labor: Child Laborers Caught by Police from
♦ Child Neglect: Burns with Hot Water 346 Railway Station 354
♦ Child Abuse: Manchaunsan’s Syndrome by Proxy 346 ♦ Child Labor: Ban or No Ban 355
16.1 CHILD ABUSE AND NEGLECT
Rat Bite in an Abandoned Newborn

Abandoned newborn with multiple Immediate Rx of injuries,
rat bite injuries on left hand, arm hypothermia and sepsis. Prevent
neck and avulsion of scalp, found by tetanus by giving ATS and tetanus
police from garbage. immunoglobulin and later
rehabilitation through orphanage
and juvenile court.

Figure 16.1.1: Rat bite in an abandoned
newborn.
Abandoned Newborn with Rat Bite Marks

This newborn was abandoned in Creating social awareness towards
a garbage. On salvaging, rat bite the welfare of children and
marks were seen on the back. elimination of poverty, which is a
difficult task.
Figure 16.1.2: Abandoned newborn with rat

bite marks.
Child Neglect: Rat Bite

Two months old baby attacked by Immediate Rx of wounds,
rat(s), destroying nose, lip and ears blood loss, prevent infection.
while the baby was asleep, next to Reconstructive surgery when the
her mentally ill mother in slums. child grows up to about 10 years
Father was at work as watchman of age.
and detected the injured baby
when he returned from work in the
morning.
Figure 16.1.3: Rat bite

Photo Courtesy: DNA, Mumbai,
17th September, ‘11, Meenakshi Mehta, 339
Mumbai
Severe Abuse—Physical, in a Child Employed as Domestic Servant

Ten years old boy, hired as domestic • Neighbors took the bleeding and
help? adopted, by a family for wailing boy to the clinic, where
last three years was allegedly many more marks of previous
pierced with a ‘screw driver’ by his torture—bruises, burn marks,
employer, because he dropped a healed scars on the back, limbs,
plate in the house. hips and face were noticed.
• Social welfare schemes for
education, medical and
comprehensive care of working
children and rehabilitation in his
own family.
Figure 16.1.4: Severe abuse—Physical, in a
child employed as domestic servant
Photo Courtesy: Mumbai Mirror, October 1st,
2011, Meenakshi Mehta, Mumbai
Physical Abuse in Two Sisters

Tortured by their father, beaten and Salvaging these two sisters from this
scalded with iron rods repeatedly. situation and counseling the father.
Father was going to sacrifice
these two girls at the advice of the
“tantric“as his business was failing.
A B
Figures 16.1.5A and B: Girls, two sisters with

injuries on hand and neck
Child Abuse: Physical, Beaten by her Employer

This 10 years old girl worked as a Salvaging the girl from child labor
domestic help. She was beaten for and later rehabilitation.
eating without permission from
family’s “shrikhand.” [dessert]
Figure 16.1.6: Girl with hematomas

340 below both eyes
Sexual Abuse: Three Years Old Girl, “Raped” by Father’s Employee

This girl child, illegitimate, was Rehabilitated through Children’s
raped by father’s employee. Father Remand Home.
was owner of a gambling den and
one of the workers raped this child.
Was brought to LTMG hospital,
Sion, Mumbai.

Figure 16.1.7: Index case three years,
illegitimate girl raped by father’s employee
Sexual and Other Abuses in Children, India—Statewise 2010

National Crime Records Bureau: Protection of children by all the
5484 children sexually assaulted, adults—family, government, police,
1408 killed and over 10,000 legal, NGOs. Sexual education of
kidnapped. Maharashtra had children and teach about reporting
highest incidence of sexual assault. sexual abuse.
Figure 16.1.8: Sexual and other abuses in

children, India—Statewise 2010
Photo Courtesy: Hindustan Times, Mumbai,
Oct., 31, 2011, Meenakshi Mehta, Mumbai
Child Sexual Abuses in Children Statewise Data, 2010

highest incidence of sexual assault sexual abuse.
Figure 16.1.9: Child sexual abuses in children

Statewise data, 2010
Photo Courtesy: Hindustan Times,
31st October 2011, Meenakshi Mehta, Mumbai
341
Child Sexual Abuse

highest incidence of sexual assault. sexual abuse.
Figure 16.1.10: Child sexual abuse

Source: Hindustan Times, 4th October 2011,
Mumbai
Child Abuse: Abandoned Newborn with Congenital Anomalies

Newborn with congenital anomalies Social education and overall welfare
abandoned in garbage, example of of children including disabled.
child abuse. Was brought by police
to hospital.
Figure 16.1.11: Abandoned newborn with

congenital anomalies
Abandoned Newborn with Marasmus

Fifteen/Sixteen days old brought Social awareness towards
for loose motions in marasmic acceptance of illegitimacy and
condition, deserted in an orphanage elimination of poverty.
cradle. Example of nutritional
abuse/ neglect.
Figure 16.1.12: Abandoned newborn with

342 marasmus
Child Abuse: Abandoned in Pediatric Ward

This 3 years old girl was deserted Later rehabilitated through
in the children’s ward of LTMG Children’s Remand Home, Mumbai.
Hospital, Sion, Mumbai, in
unconscious condition. Diagnosed
to have TBM, treated and later
rehabilitated

Figure 16.1.13: Unknown girl abandoned
in Childrens ward
Child Abuse: Child Used for Entertainment

Street child lifting heavy stones Comprehensive help to the
on neck and doing shows for child and his family especially
entertainment of people. educational, social and economical
rehabilitation through government
schemes.
Figure 16.1.14: Boy with stone hanging from

neck
Child Abuse: Girls Used for Entertainment

Young girls balancing, walking on Elimination of poverty, social
rope, performing risky street show upliftment, job security for the
for entertainment of people to earn family, education and welfare of
livelihood for the family. children.
A B
Figures 16.1.15A and B: Girls balancing on

rope for entertainment
343
Child Abuse: Entertainment (Girl Walking on Rope)

A nomad girl walks on rope, This report recommends
balancing act—a form of protest in enhancement of their social and
New Delhi for implementation of economic status of nomads and
the Rinke Commission Report. people in general.
Example of child abuse, using
children for entertainment of people
for earning livelihood.
Figure 16.1.16: A nomad girl walks on

the rope
Child Abuse: Entertainment (Boy Climbing on Pole)

Boy climbing on a pole, entertaining Social upliftment, elimination of

people for street show. poverty, education, job security for
family. Rehabilitation of affected
children in their families.
Figure 16.1.17: Boy on the pole

344
Child Abuse: Entertainment (Self-Employed)

Poor street boy probably Comprehensive help to the
uneducated, unemployed has kept child and his family especially
monkey as pet and earns petty educational, social and economical
amount by doing street shows with rehabilitation through government
this monkey for entertainment of schemes.
people.

Figure 16.1.18: Boy with monkey as a pet
Child Abuse: Alcohol Abuse/Child Neglect

Ten years old girl brought in Education of the parents/guardians
unconscious state detected to towards proper care of children. If
be in“alcoholic coma”. Mother possible, elimination of poverty, job
had deserted the child in care of security and social rehabilitation.
grandmother who had a business
of “country liquor”. This girl used to
help the grandmother in serving the
customers and got drunk, became
unconscious.
Figure 16.1.19: Child abuse, alcohol abuse

Child Neglect: Burns Due to Maternal Neglect

This infant was left alone near hot Mother/caretaker should be careful
water for bath, while the mother while handling infants and children
went to get something. The infant to prevent such mishaps.
crawled/turned over and got burnt.
Figure 16.1.20: Burns on left leg, buttocks

Photo Courtesy: Meenakshi Mehta, Mumbai 345
Child Neglect: Burns with Hot Water

This infant was left alone near hot Mother/caretaker should be careful
water for bath, while the mother while handling infants and children
went to get something. The infant to prevent such mishaps.
crawled/turned over and got burnt.
Figure 16.1.21: Burn injury on thighs

Child Abuse: Manchaunsan’s Syndrome by Proxy

Child was brought with history of Psychiatric treatment with
hematemesis, faked by his father. counseling of the responsible
Clinically there was no evidence parent to prevent recurrence.
of any organ involvement; this
illness was fabricated by the father.
It is a manifestation of fabricated
illness usually by an adult—a
parent/guardian, in a child which
may mimic a real illness, with an
objective of drawing attention of
medical personnel and in turn
getting self importance. The faked
“blood” in the bottle was “sindoor”
dissolved in water.
Figure 16.1.22: Manchaunsan’s syndrome by

proxy
346
16.2 CHILD LABOR
Child Labor: Children Working in Different Industries

Children working in different Comprehensive rehabilitation of
industries at “Dharavi”, Mumbai, child labor. Educational, social,
D India’s biggest slum. Example: economical with relocation in the
Hardware, packing, plastic products, family with financial support.
A etc.
E
B

C F
Figures 16.2.1A to F: Children working in

different industries
Child Labor: Children Working in Different Industries

Children working in hosiery, Through government employment
readymade garments, auto schemes. Elimination of Child Labor
garage,cobbler, selling vegetables, is no solution unless alternative
A D etc. at Dharavi slums, Mumbai. familial help is assured.
B E
C F
Figures 16.2.2A to F: Children working in

different industries
Child Labor: Girl Carrying Stone on Head

For example of child labor. Almost Comprehensive rehabilitation
½ of India is grappling with child of child labor. Education, social,
labor, approximately 18 million economical with relocation of the
children toiling for daily wages, child in his family with financial
majority in exploitative situations. support to the family through
government employment schemes,
etc.
347
Figure 16.2.3: Girl carrying stone on head
Child Labor: Boy Working in Puffed Rice Factory

Many children in puffed rice Socioeconomic development
factories develop respiratory of India. Family rehabilitation,
problems because they work near educational, economic, social.
cauldrons heated to 800°C.
Figure 16.2.4: Boy working in puffed rice factory

Child Labor: Boy Working on Street Pot Hole

This young boy is seen working and Socioeconomic development

helping repair pot hole. Danger of of India. Family rehabilitation,
drowning in deeper gutter below educational, economic, social.
where he is working.
Figure 16.2.5: Boy working on street pot hole

Child Labor: Boy Crushing Stones

Young child involved in strenuous Socioeconomic development
job of breaking stones. Danger of of India. Family rehabilitation,
injury to hands, legs and inhalation educational, economic, social.
of stone fine particles.
Figure 16.2.6: Boy crushing stones

348 Photo Courtesy: Meenakshi Mehta, Mumbai
Child Labor: Children Working in Brick-Kiln

Young children working at a brick- Socioeconomic development
kiln in Allahabad. of India. Family rehabilitation,
educational, economic, social.

Figure 16.2.7: Children working in brick–kiln
Child Labor: Boy Fixing Screws on a Machine

Young children are employed in all Socioeconomic development
sorts of work violating ban under of India. Family rehabilitation,
the Child Labor [Prohibition and educational, economic, social.
Regulation] Act 1986, would lead to
prosecution, penalties and other
punitive action.
Figure 16.2.8: Boy fixing screws on a machine

Child Labor: Children Carrying Heavy Loads/Bricks/Stones on Head

Children carrying heavy loads/ Government is supposed to
bricks/stones on head. follow-up on the education of
rescued child laborers after being
sent back to their patents. However,
the HC has pulled up the state for
failing to produce any such records.
Figure 16.2.9: Children carrying heavy loads/

bricks/stones on head 349
Child Labor: Child Working in Mines

A girl works in an iron ore Government is supposed to
dump yard in Jharkhand’s West follow-up on the education of
Singhbhum district. rescued child laborers, after being
Figure 16.2.10: Child working in mines

Child Labor: Girl Carrying Earthen Pots

Typical site seen “Kumbharwada, Government to follow-up is

Dharavi”. Girl helps her family for supposed on the education of
selling small pots. rescued child laborers, after being
Figure 16.2.11: Girl carrying earthen pots

Child Labor: Girl Selling Flowers, Garlands

A girl 7 to 8 years old making Socioeconomic development
garlands and selling them. of India. Family rehabilitation,
educational, economic, social.
Figure 16.2.12: Girl selling flowers, garlands

350 Photo Courtesy: Meenakshi Mehta, Mumbai
Child Labor: Child Carrying Stones

Child carrying stones/load. Notification issued prohibiting
employment of children as
domestic servants and in dhabas,
eateries, tea shops, etc. with effect
from 2006. Offending employers are
liable for criminal prosecution.

Figure 16.2.13: Child carrying stones
Child Labor: Child Carrying Cowdung Cakes

Child carrying cowdung cakes for Notification issued prohibiting
selling. Typical site in village and employment of children as
Urban slums. domestic servants and in dhabas,
eateries, tea shops, etc. with effect
Figure 16.2.14: Girl carrying cowdung cakes

Child Labor: Child Working in Garage

Young child working in garage, Presently, 13 occupations and 57
strenuous work, on the wheel. processes being hazardous are
banned for employment of children.
Figure 16.2.15: Child working in garage: wheel

351
Child Labor: Child Working in Mirchi Field

Child working in mirchi godown, Notification issued prohibiting
commonly seen in Gujarat where employment of children as
31.8% children, every 3rd child domestic servants and in dhabas,
working as opposed to 9% children eateries, tea shops, etc. with effect
from Maharashtra engaged in some from 2006. Offending employers are
or other kind of labor. Economically liable for criminal prosecution.
and industrially progressive, 1/18
children are paid workers.
Figure 16.2.16: Child working in mirchi field

Child Labor: Boy Working in Tea Stall

There is ban from October 2006 Notification issued prohibiting
of working/engaging in eateries, employment of children as

restaurants, tea stalls, dhabas, or as domestic servants and in dhabas,
domestic servants. eateries, tea shops, etc. with effect
Figure 16.2.17: Boy working on tea stall


of working/engaging in eateries, employment of children as
restaurants, tea stalls, dhabas, or as domestic servants and in dhabas,
domestic servants. eateries, tea shops, etc. with effect
352 Figure 16.2.18: Boy working on tea stall


of working/engaging in eateries, employment of children as domestic
restaurants, tea stalls, dhabas, or as servants and in dhabas, eateries, tea
domestic servants. shops, etc. with effect from 2006.
Offending employers are liable for
criminal prosecution.
Figure 16.2.19: Boy working on tea stall


Child Labor: Child Working in Workshop/Factory
Child working in workshop/factory. Presently, 13 occupations and 57
processes being hazardous are
banned for employment of children.
Figure 16.2.20: Child working in workshop/

factory
Child Labor: Young Boy Working at Construction Site

Child collecting sand for The NCLP scheme covers 250
construction of building. districts at present and is likely
to be expanded. Features of the
scheme include bridging education,
prevocational skills, stipend,
mid-day meal, health care facilities.
Figure 16.2.21: Young boy working at

construction site
Photo Courtesy: Meenakshi Mehta, Mumbai 353
Child Labor: Child Selling Earrings

Child selling earrings in a train. The National Child Labor Project
(NCLP) scheme covers 250
districts at present and is likely
Figure 16.2.22: Child selling earrings

Child Labor: Children Cleaning Utensils

Children washing utensils at the The National Child Labor Project
roadside dhaba/eatery. (NCLP) scheme covers 250

districts at present and is likely
Figure 16.2.23: Children washing utensils

Child Labor: Child Laborers Caught by Police from Railway Station

Children working on railway station Notification issued prohibiting
caught by police. employment of children as
domestic servants and in dhabas,
eateries, tea shops etc with effect
A
Figures 16.2.24A and B: Child laborers caught

354 by police from railway station
Child Labor: Ban or No Ban

India has 12.7 million (actually >18 Comprehensive welfare schemes for
million) children between 5 to 14 working children and rehabilitation
years working, highest in the world. in their families. Elimination of
They constitute 5% of the population child labor without financial help/
and 3.15% of the work force. This is improvement will not help either
despite the official ban on children the working child or the family.
under 14 years for exploitative
working/laboring.

Figure 16.2.25: Ban or no ban
Source: Times of India, 13th June 2007,
Mumbai
355
Section 17
Dermatology
Section Editor
Jayakar Thomas
Photo Courtesy
Jayakar Thomas, Parimalam Kumar

17.3 Dermatologic Emergencies
17.4 Syndromes
Section Outline
17.1 COMMON CONDITIONS 359 ♦ Fixed Drug Eruption 369
♦ Alopecia Areata 359 ♦ Hand, Foot and Mouth Disease 369
♦ Atopic Dermatitis 359 ♦ Hansen’s Disease 369
♦ Cellulitis 359 ♦ Hemangioma 370
♦ Cutaneous Larva Migrans (CLM) 360 ♦ Herpes Simplex 370
♦ Diaper Dermatitis 360 ♦ Ichthyosis Vulgaris 370
♦ Echthyma 360
♦ Infective Eczema 371
♦ Erysipelas 361
♦ Keratosis Pilaris 371
♦ Furuncle 361
♦ Lichen Planus 371
♦ Lichen Striatus 372
♦ Herpes Zoster (HZ) 361
♦ Miliaria Rubra 372
♦ Impetigo 362
♦ Morphea 372
♦ Insect Bite Allergy 362
♦ Nevus Anemicus 373
♦ Kerion 362
♦ Pityriasis Rosea 373
♦ Molluscum Contagiosum 363
♦ Pityriasis Versicolor 373
♦ Pediculosis Capitis 363
♦ Polymorphous Light Eruption (PLE) 374
♦ Pityriasis Alba 363
♦ Psoriasis 374
♦ Scabies 364
♦ Systemic Lupus Erythematosus (SLE) 374
♦ Seborrheic Dermatitis 364
♦ Systemic Sclerosis 375
♦ Tinea Capitis 364
♦ Tinea Cruris 375
♦ Urticaria 365
♦ Tuberculosis Verrucosa Cutis (TBVC) 375
♦ Verruca Vulgaris 365
♦ Tuberous Sclerosis 376
17.2 UNCOMMON CONDITIONS BUT NOT RARE 365 ♦ Vitiligo 376
♦ Acanthosis Nigricans (AN) 365 ♦ Xeroderma Pigmentosum (XP) 376
♦ Acne Vulgaris 366
17.3 DERMATOLOGIC EMERGENCIES 377
♦ Cafè au Lait Macule (CALM) 366
♦ Eczema Herpeticum (EH) 377
♦ Candidiasis 366
♦ Erythema Multiforme (EMF) 377
♦ Chronic Bullous Dermatosis of Childhood (CBDC) 367
♦ Henoch Schönlein Purpura (HSP) 377
♦ Collodion Baby 367
♦ Toxic Epidermal Necrolysis (TEN) 378
♦ Dermatomyositis 367
♦ Discoid Lupus Erythematosus (DLE) 368 17.4 SYNDROMES 378
♦ Epidermolysis Bullosa 368 ♦ Peutz-Jeghers Syndrome 378
♦ Erythema Nodosum (EN) 368 ♦ Sturge-Weber Syndrome 378
Alopecia Areata
The smooth patches of non-scarring • Local irritant topical and intral-
alopecia with depigmented hair esional steroids (beware of skin
indicating regrowth. The hair pull atrophy).
test was positive in the newer patch • Topical calcineurin inhibitors in
indicating the activity of the disease. atopy associated cases.
• Topical minoxidil 2% sol.
• Systemic immunomodulators,
e.g. levamisole.
• Avoid systemic corticosteroids.
Figure 17.1.1: Alopecia areata
Photo Courtesy: Jayakar Thomas,
Parimalam Kumar, Chennai
Atopic Dermatitis

Erythematous, edematous dry scaly • Use of a mild surfactant based
patch over the cheeks. The infants soap.
skin is dry. • Liberal use of topical emol-
lients and moisturizers applied
frequently. Mild topical steroid
(hydrocortisone) till inflamma-
tion subsides followed by TCI.
• Systemic antihistamines and anti-
biotics when ever necessary.
Figure 17.1.2: Atopic dermatitis

Cellulitis
Acute, subacute or chronic • Surgical incision and drainage.
inflammation of loose connective • Treat with systemic antibiotics.
tissue and deeper subcutaneous
• Topical antibiotics of no use.
tissue of infective origin. Diagnosis
is by erythema, warmth, swelling,
pain, tenderness. Borders diffuse
and ill-defined. Fever, lymphangitis,
lymphadenitis may be present.
Figure 17.1.3: Cellulitis

Photo Courtesy: Jayakar Thomas, 359
Cutaneous Larva Migrans (CLM)

Local pruritus begins within hours • Thiabendazole topical 10% alben-
after larval penetration. dazole 400 mgm for three days is
The serpiginous, thin, linear, raised, safe and often effective. Liquid
tunnel like erythematous migrating nitrogen may be applied to the
eruption over the sole in a boy who progressing end of larval burrow.
recently visited beach. • Antihistamines, antibiotics along
Secondary eczematization/ with topical steroid may be
infection are complications of CLM. needed if there is eczematization.
• Avoid contact with wet soil.
Figure 17.1.4: Cutaneous larva migrans (CLM)
Diaper Dermatitis
Erythematous patch with distinct • Avoid occlusive napkins. Careful
border sparing the depths of the use of topical antibiotics, anti-
flexures. fungals, and mild steroids, alone

or in combination for a short
course are useful. Always keep the
skin dry.
• Strong steroid creams should not
be applied to a baby’s folds and
bottom.
Figure 17.1.5: Diaper dermatitis

Echthyma
Deep-seated impetigo characterized • Improve hygiene and nutrition.
by the formation of adherent crusts, • Antibiotics as in impetigo. Soaks
beneath which ulceration occurs. to remove crust. Treat primary
Small bullae or pustules on an disease, if any.
erythematous base. Surmounted
by a hard crust of dried exudates.
Removal of crusts shows ulcers.
Heals with scarring. Common sites
are buttocks, thighs and legs.
Figure 17.1.6: Echthyma

360 Photo Courtesy: Jayakar Thomas,
Erysipelas
Bacterial infection of dermis and • No surgical intervention systemic
subcutaneous tissue. Erythema, antibiotics. Prevent recurrence by
swelling and pain. Surface may use of long acting antibiotics.
show blister. Edges well-defined.
Fever, lymphangitis and
lymphadenitis are invariably
associated.
Figure 17.1.7: Erysipelas

Furuncle
Bright-red, tender, indurated, • Warm compresses and systemic

round, follicular nodules. May antibiotics may arrest early furun-
evolve into an abscess. The angio- cles. Cloxacillin, erythromycin,
edema secondary to the furuncle. or cephalosporin 1 to 2 gm per
Recurrent furunculosis is common day according to body weight and
in nasal carriers. severity of the condition. Carrier
state should be treated with ap-
plication of mupirocin ointment
over the internal nares, axillae
and perianal area for 2 to 3 weeks.
Figure 17.1.8: Furuncle

Herpes Zoster (HZ)

Strictly unilateral grouped • HZ in immunocompetent
erythematous, papules, rapidly children is self-limiting. Topi-
becoming vesicular and then cal antiseptic, antibiotic to treat
pustular in a continuous or secondary infection. Do not use
interrupted band over one or steroid combinations. Systemic
more (immunocompromised) analgesics antibiotic when ever
dermatome. The ipsilateral facial needed.
palsy and vesicles on the external • Immunocompetent: Oral acy-
ear—Ramsay Hunt syndrome clovir, 30 g/kg 5 times daily for 7
– Positive Hutchinson’s sign days, started within 48 hours of
(vesicles on side and tip of nose onset of the rash.
indicates nasociliary branch
• Immunosuppressed: IV acyclovir
involvement. Tzanck smear showed
or recombinant interferon alpha-
Figure 17.1.9: Herpes zoster (HZ) multinucleate giant cell.
Photo Courtesy: Jayakar Thomas, 2a. Ophthalmologists opinion
Parimalam Kumar, Chennai to take care of and prevent the 361
ocular complications.
Impetigo
Scattered and discrete thin-walled • Saline soaks to remove crusts.
vesicles erosions with golden-yellow Sparkling cleanliness should be
crusts. maintained. Topically mupirocin/
Periorificial involvement should sisomicin/fusidic acid/gentamycin
alert one to suspect development is useful. Cream is preferred to an
of staphylococcal scalded skin ointment and should be applied 3
syndrome. to 4 times daily.
• Cloxacillin 25 to 50 mg/kg/day
in divided doses for 5 days/ap-
propriate antibiotic to which
the organism grown in culture is
Figure 17.1.10: Impetigo
sensitive.
Parimalam Kumar, Chennai • Avoid systemic steroids.
Insect Bite Allergy

The wheals surmounted by vesicle Fully covered clothing should be

and excoriated papules over the advised.
face, limbs. Sparing of the chest • Counseling, on use of mosquito
(covered by clothing). These were repellents.
itchy. Child was an atopic child
• Prevention, by maintaining sur-
whose mother gave history of
rounding hygiene.
wheezing. Secondary infection,
eczematization are common • Reassurance, on its self-healing
complications. course.
Topical antipruritics (crotamiton),
mild steroids (hydrocortisone), TCI
(tacrolimus). Oral antihistamines,
antibiotics if needed.
Figure 17.1.11: Insect bite allergy
Kerion
Boggy, elevated, purulent, inflamed • Where possible, infected hair
swelling with nodules and plaques should be clipped away to reduce
that drain serous. Hairs do not break infectivity. Crusts removed using
off but fall out and can be pulled wet compresses. Kerion should
easily without pain (i.e. loose). never be incised.
Kerion heals with scarring alopecia. • Antifungal (ketoconazole)
shampoo.
• Oral griseofulvin (ultramicrosized):
• Dose: 10 to 12.5 mg/kg/day
(Maximum: 750 to 1000 mg/day)
Figure 17.1.12: Kerion after fatty meals for better absorp-
tion for 1 to 2 months.
Molluscum Contagiosum
Dome shaped, pearly white, discrete • Manual removal wherever pos-
umbilicated papules. sible.
Perilesional eczema, secondary • Topical: Retinoic acid 0.025 to
bacterial infection, and spread of 0.1%, KOH 10%, imiquimod 1
infection by Koebner’s phenomenon to 5%, flexible collodion – 17%
are common complications. salicylic acid and 17% lactic acid
are useful.Electrocautery, liquid
nitrogen cryotherapy in older
children. Ritonavir, cidofovir,
zidovudine are found to be useful
Figure 17.1.13: Molluscum contagiosum in children with HIV.
Pediculosis Capitis
Presence of lice and nits secondary • Topical application of permethrin

infection, eczematization cervical 1%, benzyl benzoate emulsion
lymphadenopathy, and matting of 25% followed by wash.
hair (Plica polonica) are common • Oral cotrimoxazole, ivermectin
complications. 200 μ gm stat (in older children)
• Systemic antihistamine and anti-
biotics if needed.
Figure 17.1.14: Pediculosis capitis

Pityriasis Alba
The ill-defined, hypopigmented Condition is self resolving. Simple
patch with mild scaling. The skin of emollient cream is good enough.
the face is dry. Child is an atopic. TCI or topical 1% hydrocortisone
preparations may be helpful if
inflammation is present.
Figure 17.1.15: Pityriasis alba

363
Scabies
Child with history of nocturnal • Treat all contacts-
pruritus and positive family history. • Permethrin 2.5 to 5%,
Showing papules, papulopustules, • Sulfur precipitate 3 to 5%,
excoriations, vesicles, over the
• Gamma benzene hexachloride
interdigital space. Child also had
1%,
impetiginised nodules over the
genitals. • Bezyl benzoate emulsion 25 to
33%,
Face is spared except in infants.
Norwegian or crusted scabies • Crotamiton 10%,
occurs in immunocompromised • Oral antihistamines.
children. • Antibiotics for secondary infec-
Figure 17.1.16: Scabies
Photo Courtesy: Jayakar Thomas, tion.
• Oral ivermectin 3 to 6 mg—single
dose.
Seborrheic Dermatitis
The greasy scales. There is • Removal of crusts with 2 to 3%
secondary infection and excoriation salicylic acid in olive oil .
due to scratching. The cervical • Shampoos containing selenium
lymphadenopathy. KOH mount for sulfide or zinc pyrithione,tar,
fungal element was negative. ketoconazole. Topical steroid lo-
tion in very severe forms, for short
periods. Oral antihistamine and
antibiotic required when there is
secondary infection.
• Recurrences should be treated
Figure 17.1.17: Seborrheic dermatitis depending on degree of severity.
Tinea Capitis
Well-defined, round or oval patches • Where possible, infected hair
covered with small grayish-white should be clipped away to reduce
scales. The scales tend to be more the infectivity.
densely arranged around the • Antifungal (ketoconazole) sham-
openings of the hair follicles. The poo can be used to wash scalp
hairs in the affected area are broken and hair.
off into small stumps.
• Oral griseofulvin (ultramicro-
sized):
Figure 17.1.18: Tinea capitis
• Dose: 10 to 12.5 mg/kg /day after
fatty meals for 1 to 2 months.
Urticaria
The erythematous wheals which • Eliminate etiologic factor
are usually transient. If painful antihistamines are the mainstay
and persist for more than 24 hours of treatment.
healing with pigmentation think of • Prednisolone in angioedema-
urticarial vasculitis. urticaria-eosinophilia syndrome,
Test for hepatitis-associated Danazol as long-term therapy for
antigen. Assess complement hereditary angioedema; whole
system, specific IgE antibodies by plasma or C1 esterase inhibitor in
Figure 17.1.19: Urticaria RAST. ESR is ↑in persistent urticaria the acute attack.
Photo Courtesy: Jayakar Thomas, (necrotizing vasculitis), transient
Parimalam Kumar, Chennai • Emergency treatment: Subcuta-
eosinophilia—seen in urticaria from neous adrenaline. Intravenous
reactions to foods and drugs. hydrocortisone should follow but
not before adrenaline. Topical
soothing lotions as calamine will
help.
Verruca Vulgaris

Sharply demarcated, rough- • Depends on lesion location, type,
surfaced, verrucous, firm, skin extent, duration and child’s age,
colored papules, plaque. The immunestatus. Topical keratolyt-
periungual location and one over ics, 5 flurouracil (1/5%), Electro-
the upper lip. cautery, radiofrequency, laser
ablation, cryocautery are other
modalities. Immunomodulators
are used in extensive lesions and
to prevent recurrence.
• Advise against nail biting.
Figure 17.1.20: Verruca vulgaris


Acanthosis Nigricans (AN)
The pigmented rough, velvety • Aconthosis nigricons (AN) is
thickening of the skin over the directed towards the underlying
axillae in an obese boy. AN may be cause. Advise on weight reduc-
inherited or may be associated with tion, as in this boy. Correction
endocrine abnormality, obesity, of endocrinological abnormal-
drug intake, or internal malignancy. ity, discontinuation of offending
drugs or the therapy of underly-
ing malignancy. Therapies for
idiopathic AN include emollients,
keratolytics.
Figure 17.2.1: Acanthosis nigricans (AN)
Acne Vulgaris
Papules, pustules over the face with • Frequent cleansing of face.
pigmentation and scarring in an • Topical antibiotics (clindamycin,
adolescent. erythromycin).
• Benzoyl peroxide gels (2%, 5%)
retinoids 0.025%, adapalene.
• Add systemic antibiotics and
anti-inflammatory drugs in more
severe forms. Dapsone 1 to 2 mg/
kg/day in cystic acne.
Figure 17.2.2: Acne vulgaris
Photo Courtesy: Jayakar Thomas, • Counseling is of paramount im-
Parimalam Kumar, Chennai portance.
Cafè au Lait Macule (CALM)

The coffee brown colored • No treatment is required. How-
asymptomatic patch with irregular ever, laser can be used in selected
border present since birth. There are cases.
more than 6 in number measuring • Parental and patient counseling
more than 0.5 cm, suggestive of is the mainstay in supporting the
neurofibromatosis. The mother also child and parent.
had CALM macules more than 6 in
number.
Figure 17.2.3: Cafè au lait macule

Candidiasis
The painless curdy white precipitate • Systemic fluconazole is used as
over the tongue not removable. per body weight.
The para nasal skin may show • Local application of clotrimazole
erythematous scaly plaques of is also helpful.
seborroheic dermatitis in HIV
• Oral candidiasis in HIV-positive
positive adolescents.
children indicates a decline in im-
Scraping examined with 10% KOH munestatus.
showed hyphae and spores.
Figure 17.2.4: Candidiasis

366
Chronic Bullous Dermatosis of Childhood (CBDC)

The classic lesions of CBDC are clear • Ruptured and infected lesions
round or oval vesicles or bullae on may be treated with topical mupi-
normal, erythematous, or urticarial rocin and sterile dressing changes
skin. The lesions are very itchy twice daily. Oral dapsone is the
and show a characteristic ‘string drug of choice and the response
of jewel’ appearance. Scratching of the condition to dapsone is al-
Figure 17.2.5: Chronic bullous dermatosis of
childhood (CBDC)
leads to secondary infection and most confirmatory of the diagno-
Photo Courtesy: Jayakar Thomas, eczematization. sis. Oral steroids may be required
Parimalam Kumar, Chennai in small doses for initial early
resolution.
Collodion Baby
The tight, shiny, moist membrane • The mainstay is hydration of the

encasing the newborn. There was skin, correction of fluid and elec-
mild ectropion and eclabium. The trolyte balance and prevention of
outcome is unpredictable. Some secondary bacterial and candidal
of them turn normal, while some infection in special intensive
develop nonbullous ichthyosiform care with liberal application of
erythroderma. Still others have emollients (liquid paraffin) and
chronic and severe lamellar moisturisers (glycolic acid) under
ichthyosis. antibiotic cover.
Figure 17.2.6: Collodion baby • Oral synthetic retinoids can be
Photo Courtesy: Jayakar Thomas, considered after 2 weeks.
• Parental counseling is important.
Dermatomyositis
Child with recurrent fever, fatigue • Multidisciplinary 3-day pulse–
and muscle weakness and pruritus. IV methyl prednisolone pulse,
Child had proximal muscle oral prednisolone 1 to 2 mg/kg
weakness. tapered and stopped, substituted
The periorbital erythema, by immunosuppressive drug
violaceous heliotrope and edema. monitoring muscle enzymes and
blood count. (MTX is suppressive,
Watch for calcinosis cutis which is a
rather than a remittive).
sign of poor prognosis.
• IV immunoglobulin, infliximab
Figure 17.2.7: Dermatomyositis are also useful. Calcinosis can be
Photo Courtesy: Jayakar Thomas, treated with diltiazem, aluminum
Parimalam Kumar, Chennai hydroxide, probenecid, intra-
lesional corticosteroid injections.
367
Discoid Lupus Erythematosus (DLE)

Scalp showing erythematous • Avoid exposure to light. Wear
depigmented atrophic plaque broad brimmed hat. Topical
with adherent scale. The ear shows sunscreen like Zinc, stearic acid.
shuster sign. Sytemic β carotenes, chloroquine.
Note: • Regular follow-up.
• The risk of SLE is higher in
childhood DLE.
• Disseminated DLE seems to have
a poorer outcome.
Figure 17.2.8: Discoid lupus erythematosus • Frequent systemic findings—
(DLE) arthralgia and Raynaud’s .
• IgM—The most common immune
deposit.
Epidermolysis Bullosa
Bullae are present since birth and • Essentially supportive and
present on the sites of friction such avoidance of trauma. Sterile
as elbows, dorsa of hands and feet. dressings and topical antibiot-
There was no milia or scarring. ics (2% mupirocin) form the
mainstay of therapy.
• Cutaneous infections unrespon-
sive to topical antibiotics will
need systemic antibiotics.
Figure 17.2.9: Epidermolysis bullosa

Erythema Nodosum (EN)

The deep seated erythematous • Find the cause and treat. Rest,
nodules which were tender. Pain killers/NSAID are the main
The common causes of EN in stay of treatment.
children in our country are TB and
streptococcal infections. Drugs like
sulphonamides add to the causes.
History and investigation in that
order will help in the vast majority.
Figure 17.2.10: Erythema nodosum (EN)

Fixed Drug Eruption

Itchy, sharply demarcated round • Identify and with hold the offend-
erythema, occurred within 6 hours ing drug. The offending drug and
after ingestion of septran. Followed allied group of drugs should be
by blistering. avoided in future.
• Symptomatic treatment, with
topical calamine lotion or topical
steroids (Betamethasone).
• Oral sedative antihistamines are
indicated when itching is severe.
Figure 17.2.11: Fixed drug eruption
Hand, Foot and Mouth Disease

This child was seen with low-grade • Disease is self limiting. Parents
fever for 2 days followed by itchy need reassurance.
vesicles over the hand, legs, gluteal • Plenty of oral fluids.
region. Child also had vesicles over
• Antibiotics and antihistaminics
the feet. The mouth was sore and
are given if required.
the child was having difficulty in
eating. • No topical treatment is required.
Figure 17.2.12: Hand, foot and mouth disease

Hansen’s Disease
The hypopigmented patch having • Rifampicin 450 mgm on empty
coppery hue with streaking border. stomach supervised once
The patch was anesthetic suggestive monthly and dapsone 50 mgm
of borderline tuberculoid leprosy. daily unsupervised for 6 months.
There was no palpable cutaneous Regular follow-up for 6 months is
nerve twig nor peripheral nerve mandatory.
thickening.
Figure 17.2.13: Hansen’s disease

Hemangioma
• Most common tumor of neonate In many instances, no treatment
• Rapid growth but involutes will be indicated. If treatment is
completely with mild cosmetic needed, however, it may include:
disfigurement • Cortisone: Injected into the
• Hemangiogenesis is the key term hemangioma or given.
• No inter-connecting channels • Pulsed dye laser therapy: This
• Biopsy is the only required therapy treats the superficial
investigation blood vessels best.
• Raised hemangiomas may cause: • Alpha interferon: This therapy
is limited to the most severe
Figure 17.2.14: Hemangioma
1. Platelet trapping
and potentially life-threatening
Photo Courtesy: Jayakar Thomas, 2. Airway obstruction
hemangiomas.
Parimalam Kumar, Chennai 3. Visual obstruction • Surgical removal
4. Cardiac decompensation. • Oral propranolol under supervision
has shown good results.
Herpes Simplex
The grouped monomorphous • Less than 6 years of age, acyclovir
vesicles on erythematous base. Note 15 mg/kg/day in 5 divided doses.
there is no segmental distribution Adult dose, for children > 40 kg
as in herpes zoster. Note secondary weight.
infection with cellulitis and labial • Herpes simplex in immuno-
edema in a HIV positive girl. The compromised child requires
submandibular node was enlarged prophylactic dose till the child is
in both children. on immunosuppressant drugs.
Figure 17.2.15: Herpes simplex

Ichthyosis Vulgaris
Ichthyosis is seen as dry scaly skin. • The main approach to treatment
Ichthyosis vulgaris is an autosomal includes hydration of the skin
dominant genetic disorder first and application of an ointment to
evident in early childhood. It is the prevent evaporation. Moisturizers
most common form of ichthyosis, containing urea in lower strengths
accounting for more than 95% (10–20%) produce a more pliable
of ichthyosis cases. It may be stratum corneum by acting as a
associated with atopy. humectant. Topical retinoids (e.g.
tretinoin 0.025%) may be ben-
Figure 17.2.16: Ichthyosis vulgaris
eficial. Ichthyosis vulgaris is not
Photo Courtesy: Jayakar Thomas, responsive to steroids, but a mild
Parimalam Kumar, Chennai topical steroid may be useful for
370
pruritus.
Infective Eczema
The erythematous scaly papules • Since the eczema is secondary to

around the external auditory meatus an infective discharge, correction
with involvement of the cheek in a of infection ASOM will heal the
child having ASOM. eczema.
Figure 17.2.17: Infective eczema

Keratosis Pilaris

Horny follicular papules in an atopic • Topical emollients, moisturisers,
child. keratolytics like salicylic acid, es-
sential fatty acid will help.
Figure 17.2.18: Keratosis pilaris

Lichen Planus
Itchy polygonal/oval, flat-topped, • Reassurance of the patient and
violaceous shiny papules showing avoidance of stress and drugs
Koebner’s phenomenon. Oral causing lichenoid eruptions.
mucosa showed white lacy plaque. • Topical fluorinated steroid
Palms and soles and nail were creams and ointments, sedative
normal. antihistamines. Systemic steroids,
e.g. prednisolone 15 to 20 mg/
day in short courses, are indicated
in severe cases, in acute general-
Figure 17.2.19: Lichen planus ized lichen planus, in ulcerative
Photo Courtesy: Jayakar Thomas, oral lesions, and when there is
Parimalam Kumar, Chennai progressive nail destruction.
371
Lichen Striatus
Lichen striatus is a rare, benign, • Is a self-limited disorder and
self-limited inflammatory linear spontaneously regresses within
dermatosis of unknown origin. 3 to 12 months. The patient and
It is clinically diagnosed on family should be reassured.
the basis of its appearance and Lichen striatus of the nail may
characteristic developmental indicate a protracted course. Nail
pattern of hypopigmented patches involvement resolves spontane-
and papules following the lines ously without deformity within 30
of Blaschko. Many etiologic or months.
predisposing factors are suggested,
commonly the combination
Figure 17.2.20: Lichen striatus
of genetic predisposition with
Photo Courtesy: Jayakar Thomas, environmental stimuli. Atopy may
Parimalam Kumar, Chennai be a predisposing factor.
Miliaria Rubra
Erythematous very itchy papules • Usually self-resolving.
over face and other sweaty areas like • Itching is managed with bland lo-
trunk and axillae. tions like calamine lotion and oral
Itching leads to secondary infection antihistamines.
(Eccrine poritis, as shown on face) • Good aeration is the sheet anchor
and eczematization. of all remedies.
Lesions may heal with scaling.
Figure 17.2.21: Miliaria rubra

Morphea
The shiny atrophic skin over a • Topical calcipotriene 0.005%
sclerosed plaque in a segmental twice a day.
distribution. The skin was hard, • Oral phenytoin sodium 4 to 8
bound down and difficult to be mgm/kg body weight.
pinched.
• Steroids will stop progress during
Histology showed hyalinised, early inflammatory stage.
hypertrophied and homogenised
collagen replacing the subcutis with
high uptake of sweat glands.
Figure 17.2.22: Morphea
372 Parimalam Kumar, Chennai
Nevus Anemicus
Hypopigmented patch with intact • No treatment is required. Should
sensation. Note the serrated margin. be differentiated from vitiligo and
re-assure the parents that it is a
benign birth mark.
Figure 17.2.23: Nevus anemicus

Pityriasis Rosea

The erythematous oval scaly herald • It is a self limiting condition.
patch and the smaller patches • Avoid irritant woolen cloths,
in Christmas tree pattern. The hot baths and soap. Topically—
peripheral collarette of scales. emollient, mild corticosteroid
lotion will suffice.
• Oral antihistamine when there
is itching and if severe. UVB
treatment by an expert may be
required for the remnant postin-
Figure 17.2.24: Pityriasis rosea flammatory hypopigmentation.
Pityriasis Versicolor
Pencil drawn, sharply marginated, • Short applications of selenium
scattered, discrete, round or oval sulfide (2.5% to be washed off in
macules, with fine branny scaling 30 minutes) for 12 nights. Repeat
showing positive finger nail sign— every 2 weeks.
The scales can be easily scraped off • Sodium thiosulfate (25%) solu-
with the edge of a glass microscope tion in water applied once or twice
slide. daily.
• Miconazole 1 to 2% cream.
• Topical ketoconazole (2%) either
Figure 17.2.25: Pityriasis versicolor
as shampoo or cream.
Parimalam Kumar, Chennai • In older children with extensive
lesion, oral ketoconazole 200 mg
373
on empty stomach X 10 days.
Polymorphous Light Eruption (PLE)

Hypopigmented scaly patch and • Encourage child to wear hat while
plaque with history of itching going out in sun/ playing.
getting worse on exposure to sun • Topical sunscreen should always
light over the malar prominence be used and re-applied when
and bridge of nose. sweating is more and wash away
the cream. Mild steroid cream
(hydrocortisone) or TCI will help.
• Systemic antihistamines should
be given when itching is severe.
Figure 17.2.26: Polymorphous light
eruption (PLE)
Psoriasis
The erythematous plaque with • Exclude focal sepsis in the ENT

silvery scales over the extensor and dental area.
aspect of elbows and knees. Auspitz • Mid potent topical steroid with
sign was positive. Finger nails anti-histamines. Followed by
showed pitting. topical TCI. Child needs regular
follow-up.
Figure 17.2.27: Psoriasis

Systemic Lupus Erythematosus (SLE)

The malar rash as pigmented • Treatment depends on the sever-
macules and patches in a child with ity of the disease and the organ
recurrent fever. The palatal erosions system involvement after exclud-
were painless. Child was positive ing other possibilities. The most
for ANA, Ds DNA, ↓C3 and C4,↑ 24 important management tool in
hours urinary protein. the treatment of systemic lupus
erythematosus (SLE) is meticu-
lous and frequent
re-evaluation of patients.
Figure 17.2.28: Systemic lupus erythematosus • Hydroxy chloroquine.
(SLE)
• Dexamethasone monthly pulse.
Parimalam Kumar, Chennai • The management of lupus nephri-
tis depends on the grade after
374
doing a renal biopsy.
Systemic Sclerosis
This girl gave history suggestive • Goals of treatment of Raynaud’s
of Raynaud’s phenomenon are to: Reduce the number and
and dysphagia. The ironed out severity of attacks. Prevent tissue
forehead and pinched nose. The damage. Treat underlying disease.
hands showed tapering of fingers, Avoid precipitating factors. Treat-
depigmentation and finger tip ment of JSSc is aimed at arresting
ulcer and stellate scars. All children further progress of disease, organ
should be closely watched for damage. Drugs used are D peni-
development of gangrene. It is cillamine, nifedipine, ACE inhibi-
worth checking for ANA, ACA, tors, NSAIDs, omeprazole, careful
Figure 17.2.29: Systemic sclerosis APL antibody, the latter is more usage of glucocorticosteroids and
Photo Courtesy: Jayakar Thomas, frequently positive in pediatric immunosuppressants. IV Ig and
Parimalam Kumar, Chennai Raynaud’s phenomenon. prostanoids are future promises.
Tinea Cruris

Very itchy, well demarcated plaques • Local hygiene, particularly in
over the groins. The margins show teen-aged boys regular change to
scaling and are studded with fine clean and dry inner wear. Topical
papules. Pigmentation occurs due 1% clotrimazole/1% miconazole
to scratching. to be used for 4 to 6 weeks.
• Add oral sedative antihistaminics
(pheniramine maleate) to control
the itch.
• Oral griseofulvin (micronized)
250 mg daily with milk for 3 weeks
Figure 17.2.30: Tinea cruris may be required for stubborn
Photo Courtesy: Jayakar Thomas, cases of tinea cruris.
• Never use topical steroids.
Tuberculosis Verrucosa Cutis (TBVC)

Asymptomatic rough verrucous • Management of cutaneous tuber-
plaque with purulent discharge culosis is the same as that of tu-
from the crypts on pressing. There berculosis elsewhere in the body.
was no regional lymphadenopathy, The two months of four drugs and
nor pulmonary TB. four months of two drugs regime
holds good and gives successful
results. Before starting on treat-
ment, systemic involvement
should be ruled out.
Figure 17.2.31: Tuberculosis verrucosa
cutis (TBVC)
Tuberous Sclerosis
Skin colored to brown papules, • Electrocautery or laser ablation
thick firm fibrous plaque and hypo– of the skin lesion and appropriate
pigmented macule over the arm management of the seizures.
with history of seizures. The CT
brain showed periventricular tuber.
Figure 17.2.32: Tuberous sclerosis

Vitiligo
Nonscarring depigmented patch. • Topical steroid, TCI, PUVA may
The leukotrichia (depigmented help only to some extent as the
hair) which indicates stability disease is stable.
of the disease and chances of • Systemic PUVA should not be
repigmentation spontaneously or tried in children below 10 years
to medical management is much of age.
less. Search for thyroid disease,
• Ruling out or correcting focus of
diabetes mellitus, pernicious
sepsis in the ENT and dental area
anemia, Addison’s disease, poly
is useful.
endocrinopathy syndrome with
mucocutaneous candidiasis.
Figure 17.2.33: Vitiligo
Xeroderma Pigmentosum (XP)

The xerotic skin, pigmented and • Complete protection from sun is
hypopigmented atrophic macules the first line of treatment. Topical
in a child with XP. The larger growth sunscreen like zinc cream and
is squamous cell carcinoma and the systemic beta carotene should be
smaller one actinic keratosis. started as early as possible. Oral
synthetic retinoids will prevent or
at least postpone development of
cutaneous malignancy. Surgical
removal of malignant lesions.
Figure 17.2.34: Xeroderma pigmentosum (XP)

17.3 DERMATOLOGIC EMERGENCIES
Eczema Herpeticum (EH)

Clusters of umbilicated vesiculo- • EH is a medical emergency and
pustules in a febrile sick atopic involvement of eye is an ophthal-
child preceded by fever, chills, and mological emergency.
malaise. Few vesiculopustules • Acyclovir 25 mg/kg/day, divided
progressed to develop painful into 5 equal doses for 5 to 10 days.
hemorrhagic, crusted, punched-out Renal impairment can be pre-
erosions. Tzanck smear showed vented with adequate hydration.
multineucleated giant cells.
• Topical steroids and calcineurin
Seborrheic dermatitis, ichthyosis, inhibitors, are contraindicated
Figure 17.3.1: Eczema herpeticum (EH) Darier’s disease are some of other during a herpetic outbreak.
Photo Courtesy: Jayakar Thomas, conditions where EH occurs in
Parimalam Kumar, Chennai children.
Erythema Multiforme (EMF)

Sick child with mucosal erosion and • Admission into ICU. Maintenance
crusting. Seen here are the classical of fluid electrolyte balance and
target lesions are seen on the nutrition.
skin. The child also had fever and • Early institution of systemic
respiratory infection. steroids. According to body
weight in all cases of drug in-
duced EMF and SJS. Acyclovir in
recurrent EMF, if herpes simplex
is suspected to be the cause.
• Appropriate safe antibiotic and
Figure 17.3.2: Erythema multiforme
Photo Courtesy: Jayakar Thomas, saline soaks for the crusting
Parimalam Kumar, Chennai should be considered.
Henoch Schönlein Purpura (HSP)

The purpuric macules flat and • It is largely supportive. Analge-
elevated (palpable) over the lower sics, NSAID or acetaminophen
limbs. to reduce joint and soft tissue
HSP may be a signature lesion of discomfort. Role of corticosteroid
underlying vasculitis. Pain abdomen is controversial. It prevents devel-
and arthralgia are frequent opment of nephritis in children
associations. with HSP, although its use in the
treatment of intestinal and neu-
rologic complications is gaining
acceptance. If used, prednisolone
1 to 2 mg/kg/day PO for 7 days is
recommended. Antihypertensives
are indicated in renal involve-
Figure 17.3.3 Henoch Schönlein purpura (HSP)
ment.
Toxic Epidermal Necrolysis (TEN)

Multiple hemorrhagic bullae with • Should be treated as a thermal
erosions in a sick child following burn patient. The role of corticos-
intake of septran. There was teroids is controversial but will
cutaneous tenderness and Nikolsky arrest the progression of TEN if
sign was positive. given in the first 24 to 48 hours.
The involvement of conjunctival and Maintain fluid and electrolyte
genital mucosa. balance with IV replacement of
water, electrolytes, albumin and
plasma with appropriate wound
Figure 17.3.4: Toxic epidermal necrolysis
(TEN)
and eye care. Safe antibiotic and
Photo Courtesy: Jayakar Thomas, IV immunoglobulin only in
Parimalam Kumar, Chennai selected children. Prevent aspira-
tion pneumonitis, avoid re-expo-
sure to offending drug.
17.4 SYNDROMES
Pigmented macule over the skin, lip, • Close observation and periodic
buccal mucosa palm and sole. Child evaluation is required.
had associated intestinal polyposis.
Figure 17.4.1: Peutz-Jeghers syndrome

Red, blanching plaque in child • Laser ablation will fade the lesion.
with history of seizures. Look for The associated neuro-ocular
glaucoma, mental retardation and problem should be attended to.
ipsilateral leptomeningeal angioma. • Reassure the parents that it is a
benign birthmark.

378 Parimalam Kumar, Chennai
Section 18
Ophthalmology
Section Editor
TS Surendran, S Meenakshi, R Srikanth
Photo Courtesy
S Meenakshi, Sumita Agarkar, Kavitha Kalaivani N,
R Srikanth, Akila Veeraputhiran, A Radhi Malar

18.3 Emergencies
18.4 Syndromes
Section Outline
18.1 COMMON CONDITIONS 381 ♦ Periocular Capillary Hemangioma 389
♦ Accommodative Esotropia 381 ♦ Retinitis Pigmentosa 390
♦ Amblyopia 381 ♦ Retinoblastoma 390
♦ Astigmatism 381 ♦ Retinopathy of Prematurity (ROP) 390
♦ Congenital Cataract 382 ♦ Viral Conjunctivitis 391
♦ Congenital NLD Obstruction 382 18.3 EMERGENCIES 391

♦ Hypermetropia 382 ♦ Chemical Injuries 391
♦ Infantile Esotropia 383 ♦ Corneal Ulcer 392
♦ Intermittent Exotropia 383 ♦ Ophthalmia Neonatorum 392
♦ Myopia 384 ♦ Orbital Cellulitis 393
♦ Optic Atrophy 384 ♦ Orbital Floor Fracture 393
♦ Pseudostrabismus 385 ♦ Penetrating Injury 394
♦ Ptosis 385 ♦ Preseptal Cellulitis 394
♦ Vernal Keratoconjunctivitis (VKC) 386
18.4 SYNDROMES 395
18.2 UNCOMMON CONDITIONS BUT NOT RARE 386 ♦ Bardet-Biedl Syndrome 395
♦ Brown Syndrome 386 ♦ Blepharophimosis Syndrome 395
♦ Cone Dystrophy 387 ♦ Crouzon Syndrome 396
♦ Corneal Opacities in Newborn 387 ♦ Down’s Syndrome 396
♦ Duane’s Retraction Syndrome—Type 1 388 ♦ Goldenhar Syndrome 397
♦ Infantile Glaucoma 388 ♦ Marfan’s Syndrome 397
♦ Juvenile Idiopathic Arthritis 389 ♦ Neurofibromatosis (NF) 398
♦ Orbital Rhabdomyosarcoma 389 ♦ Sturge-Weber Syndrome 398
Accommodative Esotropia
• Esodeviation caused due to • Full cyclopegic correction.
excessive covergence associated • Harness frames for small infants.
with accommodation.
• Convergence excess types:
• Presents at 2nd year of life. bifocals glasses.
• Classified into refractive and • Miotics: Phospholine iodide
nonrefractive. (0.06–0.12%).
• Associated with it is variable angle • Prisms: Small residual
A
of esodeviation, uncorrected esodeviation.
hypermetropia, high AC/A ratio
• Surgery: Nonaccommodative
and convergence excess type.
esotropia.

B
Figures 18.1.1A and B: Accommodative

esotropia
Photo Courtesy: S Meenakshi,
Sankara Nethralaya
Amblyopia
• Child with complaints of • Before treating amblyopia it is
unilateral diminution of vision important to correct the refractive
wearing a patch. error and treat the cause of visual
• Amblyopia may be caused by deprivation.
anisometropia, strabismus or • Patching of the better seeing eye
visual deprivation (cataract, is the mainstay of amblyopia
corneal opacity). treatment.
• Penalization (blurring the vision
Figure 18.1.2: Amblyopia
Photo Courtesy: S Meenakshi, of the better seeing eye with
Sankara Nethralaya atropine) is an alternative.
Astigmatism
• Child with complaints of • Regular astigmatism is managed
diminution of vision wearing with cylindrical lenses. Toric
cylindrical lenses. contact lenses are an alternative.
• Image is not sharply focussed on a • Irregular astigmatism is usually
point because either the cornea or difficult to correct with glasses;
the lens is not spherical and has contact lenses are a better
greater power in one meridian. alternative.
• Astigmatism may be regular or
Figure 18.1.3: Astigmatism irregular (caused by corneal scar/
Photo Courtesy: S Meenakshi, keratoconus). 381
Sankara Nethralaya
Congenital Cataract
• Opacity of lens at birth. • Treat associated ocular condition.
• Etiology: Idiopathic, AD, • Refer to a pediatrician to treat
metabolic syndrome, maternal underlying systemic disorder.
infections and PHPV. Surgical:
• Types of congenital cataract • Below two years: lensectomy
• Zonular, Polar, Nuclear and • Above two years: lens aspiration
Posterior lenticonus. with IOL implantation.
• Presents with leukocoria (white
Figure 18.1.4: Congenital cataract reflex in the pupil), nystagmus,
Photo Courtesy: Sumita Agarkar,
Sankara Nethralaya
strabismus, RAPD.
Congenital NLD Obstruction

• Obstruction of drainage below Nonsurgical: Digital massage of
the lacrimal sac occurs in 5% lacrimal sac is performed till one

newborns. year of age. It uses hydrostatic
• Membrane at lower end of pressure to opens the duct. Topical
nasolacrimal duct is the cause. instillation of antibiotics.
• Symptoms become manifest by Surgical: Early probing: before age
age 1 month in 80-90%, it presents 12 months reduces the duration of
with epiphora. symptoms.
• Sticky mucopurulent discharge • Infracture of inferior turbinate.
Figure 18.1.5: Congenital NLD obstruction
Photo Courtesy: Kavitha Kalaivani N, accumulates on the eyelid. • Balloon catheter dilation.
Sankara Nethralaya
• Digital pressure over the lacrimal • Intubation: Silicone
sac produces reflux cloudy fluid intubation recommended
through the punctum. when simple probing fails or
Dacryocystorhinostomy.
Hypermetropia
• Child with complaints of • Hypermetropia is managed by
diminution of vision wearing plus the use of convex lenses. Contact
lenses. lenses and refractive laser surgery
• Hypermetropia in children are alternative options.
is usually well compensated • Use of reading glasses may be
because of the strong required earlier in life.
accommodative power of the lens.
• Children with hypermetropia
may present with an acquired
Figure 18.1.6: Hypermetropia convergent squint.
382 Sankara Nethralaya
Infantile Esotropia
• Large angle inward deviation of • The treatment for infantile

the eye. esotropia is surgical.
• Presents from birth to 6 months • Main indication of early surgery is
of age. to obtain binocular fusion.
• Mild limitation of abduction may • Important to treat amblyopia
be present. and any refractive error before
• The incidence of amblyopia is surgery.
proportional to the duration of • Procedure of choice: Bilateral
esotropia. medial rectus recession.
Figure 18.1.7: Infantile esotropia • The classic triad of motor
Sankara Nethralaya abnormalities associated are
inferior oblique overaction,
dissociated vertical deviation and
latent nystagmus.

Intermittent Exotropia
• Large exophoria that is • Nonsurgical management:
intermittently controlled by Appropriate refractive correction.
fusional vergence. Orthoptics treatment: Anti
• May become a manifest divergent suppression exercises.
squint with passage of time. • Optical treatment: Over
• Signs include blurred vision, corrected minus lens to stimulate
asthenopia, visual fatigue, convergence.
diplophotophobia. • Prisms.
A • Strabismus surgery.
Figures 18.1.8A and B: Intermittent exotropia

Sankara Nethralaya
383
Myopia
• Child with complaints of • Simple myopia requires concave
diminution of vision for distance; lenses. Contact lenses or laser
wearing minus lenses. refractive surgery are alternative
• Two forms of myopia are options.
known—simple or physiological • Patients with pathological myopia
and the pathological type with have higher risk of developing
degenerative changes of the glaucoma, cataract, retinal tears
retina. and retinal detachment which
needs surgical management.
Figure 18.1.9: Myopia

Sankara Nethralaya
Optic Atrophy
• Child was brought with the • There is no known treatment as
complaints of inability to the degeneration of optic nerve
recognize parents. Fundus exam- fibers is irreversible.
ination revealed a pale optic disc. • Optic nerve fiber loss secondary
• Congenital optic atrophy is a type to raised intracranial pressure
of hereditary optic neuropathy may be arrested by identifying the
which may be inherited either cause and treating it.
as an autosomal dominant or • Optic atrophy secondary to
recessive trait. vascular, traumatic, degenerative
• It is characterized by irreversible and toxic cause have a poorer
Figure 18.1.10: Optic atrophy
degeneration of retinal ganglion prognosis.
Sankara Nethralaya cells.
• Other common causes of optic
atrophy in children are glaucoma,
stroke, papilledema, trauma,
toxicity and tumors of brain.
384
Pseudostrabismus
• This is a group of conditions • Pseudostrabismus does not

where eyes appear misaligned require any intervention. It needs
falsely. There can be a psuedo- periodic ophthalmic evaluation
esotropia or a pseudoexotropia. and counselling of parents.
• Common causes of
pseudoesotropia may be
prominent epicanthal folds or
a broad nasal bridge. Rarely
abnormal macular position
A
leading to a negative angle kappa
can give rise to pseudoesotropia.
• Pseudoexotropia is commonly
seen as a sequelae of retinopathy
of prematurity where macular
dragging temporally leads to a
positive angle kappa. This gives
rise to an appearance of exotropia.

• It is important to differentiate
B
it from true strabismus which
can potentially cause amblyopia
Figures 18.1.11A and B: Pseudostrabismus
and loss of binocularity.
Sankara Nethralaya Pseudostrabismus can easily be
dignosed on doing cover test.
Ptosis
• Drooping of lids. • Nonsurgical: Crutch glasses.

• Etiology: Defective function of • Occlusion therapy for amblyopia.
levator or muller muscle complex. • Surgical: Frontalis sling procedure
• Associated with amblyopia, or levator resection surgery.
strabismus, telecanthus and
marcus gunn jaw winking
phenomenon.
• Commonly associated with
blepharophimosis syndrome.
Figure 18.1.12: Ptosis

Photo Courtesy: Bipasha Mukherjee,
Sankara Nethralaya
385
Vernal Keratoconjunctivitis (VKC)

• VKC is a recurrent, bilateral, and • Local therapy: Topical steroids are
self limiting inflammation of effective.
conjunctiva. • Mast cell stabilizers such as
• VKC is thought to be an allergic sodium cromoglycate (2%)
disorder which is IgE mediated. drops 4 to 5 times a day are
• Symptoms: Burning and itchy quite effective in controlling
sensations associated symptoms VKC, Azelastine, olopatadine
include mild photophobia, and ketotifen eyedrops are also
lacrimation, stringy discharge and effective.
A
heaviness of eyelids. • Topical antihistamines can be
Types: used. Acetyl cysteine (0.5%) used
topically has mucolytic properties
• Palpebral form: Typical lesion is
and is useful in the treatment of
characterized by the presence of
early plaque formation.
hard, flat topped papillae arranged
in cobble stone or pavement stone • Topical cyclosporin is reserved for
fashion. unresponsive cases.
• Bulbar form: It is characterized by • Treat associated systemic

dusky red gelatinous thickened allergies
accumulation of tissue around • Treatment of large papillae: Cryo
B
limbus and presence of discrete application, surgical excision or
Figures 18.1.13A and B: Vernal whitish raised dots (Tranta’s spots). supratarsal application of long
Keratoconjunctivitis (VKC)
Photo Courtesy: Bhaskar Srinivasan, • Mixed form: Shows the features of acting steroids.
Sankara Nethralaya both palpebral and bulbar types.

Brown Syndrome
• Child presented with complaints • Spontaneous resolution is
of inability to elevate the eye. common.
• The patient’s inability to elevate • Indications for surgery include
the eye is worse in adduction than anomalous head posture,
in midline or abduction. hypotropia in primary gaze,
• Positive forced duction test diplopia, and downshoot in
confirms the diagnosis. adduction.
• Ipsilateral superior oblique
weakening procedure is the
surgery of choice.
Figure 18.2.1: Brown syndrome
Sankara Nethralaya
386
Cone Dystrophy
• Characterized by triad of symptoms • There is no proven cure for this
namely slowly progressive vision condition but palliative measures
loss, photophobia and poor color like tinted glasses and low vision
vision. Fundus examination may be aids help.
essentially normal to typical bull’s • Genetic counseling is necessary.
eye maculopathy.
• Electro-retinogram shows
abnormal cone function with near
normal rod response.
• Other features may be nystagmus
Figure 18.2.2: Cone dystrophy and temporal optic nerve pallor.
Sankara Nethralaya
• Usually sporadic but if inherited
usually autosomal dominant.

Corneal Opacities in Newborn
• Varied etiology ranging • Need detailed evaluation under
from infections to metabolic anesthesia to establish etiology.
imbalance. • Mandatory to check intraocular
• Common causes are, pressure. Management depends
sclerocornea, corneal ulcers, on size and location of opacity.
trauma, increased intraocular • Large or central opacities need
pressure, metabolic diseases penetrating keratoplasty. Partial
like mucopolysaccharidoses, thickness opacities may do
endothelial dystrophies, Peters well with lamellar keratoplasty
anomaly, etc. reducing risk of rejection.
Figure 18.2.3: Corneal opacities in newborn
Photo Courtesy: Bhaskar Srinivasan, • Smaller opacities can be managed
Sankara Nethralaya
by dilating drops or optical
iridectomy.
• Followup is essential to as risk of
rejection is high.
387
Duane’s Retraction Syndrome—Type 1
• Child was brought with complaints • Indications for surgery include

of inward deviation of eye. strabismus in primary gaze,
• Congenital disorder characterized diplopia and significant
by inability to abduct the affected anomalous head posture.
eye with narrowing of palpebral • Bilateral medial rectus recession
fissure on adduction. is the preferred procedure.
• Caused by innervational • Vertical rectus muscle
misdirection of oculomotor nerve transposition is an alternative.
to lateral rectus muscle. • Y-splitting of lateral rectus muscle
• Usually sporadic, may be familial may be added in patients with
Figure 18.2.4: Duane’s retraction or associated with systemic upshoots/downshoots.
syndrome—Type 1
disease (Goldenhar syndrome,
Sankara Nethralaya Klippel Feil syndrome).
Infantile Glaucoma
• Usually presents in infancy. There • Management is almost always

is predilection for male sex. surgical.
• Typical triad of symptoms include • Choice of procedure is
epiphora, photophobia and trabeculectomy or goniotomy.
congestion. • Severe cases may need
• There may be increase in corneal trabeculectomy with
diameter typically more than antimetabolites.
12 mm. • Follow-up is essential despite
• Clouding of cornea occurs due to good pressure control initially
tears in Descemet’s membrane as these patients are prone for
called Haabs striae. This rupture amblyopia and myopia.
leads to corneal edema and • May develop giant retinal tears
A
subsequent haze. later in life.
• Intraocular pressure is increased.
Optic nerve cupping may be seen.
• It is often bilateral but unilateral
or asymmetric presentation has
been reported.
• Most cases are sporadic but auto-
somal recessive inheritance is
known.
Figures 18.2.5A and B: Infantile glaucoma

Sankara Nethralaya
388
Juvenile Idiopathic Arthritis
• Chronic, nongranulomatous, • Screening of children at risk is

bilateral anterior uveitis. most important.
• In most patients arthritis occurs • Systemic onset = not required.
before the uveitis. • Polyarticular onset = every
• Uveitis is usually asymptomatic 9 months.
• May present with strabismus, • Polyarticular onset + ANA = every
cataract or band shaped 6 months.
keratopathy. • Pauciarticular onset = every
• More commonly associated with 3 months.
pauciarticular and polyarticular • Pauciarticular + ANA = every
Figure 18.2.6: Juvenile idiopathic arthritis
Photo Courtesy: R Sudharshan, onset. 2 months.
Sankara Nethralaya
Orbital Rhabdomyosarcoma

• Most common primary orbital • MRI shows a poorly defined mass
malignancy of childhood. of homogenous density with
• Presents with rapidly progressive adjacent bony destruction.
unilateral proptosis. • Metastatic work-up including
• First decade. chest X-ray, liver function tests,
bone marrow biopsy, lumbar
• Superonasal or retrobulbar mass
puncture and skeletal survey.
that may be palpable.
• Incisional biopsy by
• Skin may be injected and swollen
ophthalmologist followed by
later.
Figure 18.2.7: Orbital rhabdomyosarcoma
referral to pediatric oncologist for
Photo Courtesy: Bipasha Mukherjee, radiotherapy and chemotherapy.
Sankara Nethralaya
Periocular Capillary Hemangioma

• A neonate was brought with • Periodic ophthalmologic
complaints of a reddish mass evaluation.
lesion around the eye. • Superficial type can show
• Capillary hemangioma is a spontaneous regression.
primary, unilateral, benign • Intralesional injection of
hamartoma of tightly packed corticosteroid.
capillaries apparent at birth or
• Vincristine.
within first 8 weeks of life, most
of which regress within 7 years of • Pulsed dye laser for superficial
age. lesions.
Figure 18.2.8: Periocular capillary hemangioma
• Most commonly seen in the • Surgical resection for localized
Sankara Nethralaya superonasal quadrant of upper lesions.
eyelid. Ptosis, astigmatism and • Propranolol—promising results.
amblyopia are the complications
of the periocular type. 389
Retinitis Pigmentosa
• Presents with night blindness. • ERG shows reduced scotopic and

• Usually in the third decade or may combined response and later
be sooner. photopic also.
• Retinal arteriolar narrowing may be • Rule out associated systemic
the first sign. conditions such as Kearns-Sayre
syndrome, Usher’s, Refsum’s
• Mild pigmentary changes and
disease.
‘bone corpuscular’ perivascular
pigmentary changes. • Gene therapy is being done in
some centers.
• Tessellated fundus, waxy disk pallor.
Figure 18.2.9: Retinitis pigmentosa
• Macular atrophy and cystoid
Photo Courtesy: Vikas Khetan, macular edema may ensue.
Sankara Nethralaya
Retinoblastoma
• A 2 years old child was brought with • Treatment depends on the stage
complaints of white reflex seen in and laterality of the tumor.
both eyes. • Systemic chemotherapy
• Fundus examination revealed with vincristine, etoposide
extensive white masses and CT and cisplatin is used for
scan showed bilateral intraocular chemoreduction of tumor.
calcification. • Eyes with elevated IOP, rubeosis
• Retinoblastoma is the most iridis, tumor in anterior chamber
common primary intraocular and evidence for optic nerve
malignancy in childhood. involvement need enucleation.
Figure 18.2.10: Retinoblastoma • Leukocoria and strabismus are • Brachytherapy, transpupillary
Photo Courtesy: Vikas Khetan,
the most common modes of thermotherapy and external beam
Sankara Nethralaya
presentation. radiotherapy are alternatives.
Retinopathy of Prematurity (ROP)
• A 4 weeks old premature, low • Treatment should be carried out

birth weight neonate was brought as soon as possible.
for screening eye examination. • Laser therapy over avascular
• Fundus examination revealed an retina is the procedure of choice.
extraretinal fibrovascular tissue • Cryotherapy is an alternative.
with tortuous vessels.
• For advanced disease, lens
• Abnormal proliferation of blood sparing vitreous surgery and
vessels which may progress to scleral buckling are performed.
fibrous tissue contraction and
• Strabismus and amblyopia need
lead to retinal detachment.
to be managed during follow-up.
Figure 18.2.11: Retinopathy of prematurity • Low birth weight, gestational age
Photo Courtesy: Vikas Khetan,
and oxygen therapy are major risk
390 Sankara Nethralaya
factors for development of ROP.
Viral Conjunctivitis
• Caused most commonly by • Cold compress.

adenovirus. • Topical antibiotics to prevent
• Some sero types are (types 18, secondary infection.
19 and 37) are associated with • Mild topical steroid and tear
epidemic keratoconjunctivitis, substitute.
pharyngoconjunctival fever (types
3 or 7) and follicular conjunctivitis
(types 1 to 4, 7 and 10).
• After an incubation period 5 to
12 days patient presents with
symptoms of watery discharge,
irritation, hyperemia of
conjunctiva and follicle formation
with preauricular adenopathy.
• A diffuse superficial keratitis
is followed by focal epithelial
Figure 18.2.12: Viral conjunctivitis infiltrates and subepithelial

Photo Courtesy: Bhaskar Srinivasan,
opacities in the cornea.
Sankara Nethralaya
18.3 EMERGENCIES
Chemical Injuries
• Accidental burns due to alkali • Emergency management consists
such as ammonia, sodium of copious irrigation as soon as
hydroxide or lime, or acid that possible with normal saline for
often occur with common 15 to 30 minutes.
substances in the household. • Double eversion of the eye lid
• Alkali penetrates deeper causing to remove retained particulate
more damage. matter.
A
• Necrosis of conjunctival and • Debridement of necrotic
corneal epithelium is followed by epithelium.
loss of limbal stem cells. • Medical treatment includes
• Grading of severity is important topical steroids, NSAIDs, ascorbic
for management. acid and citric acid.
• Opacification and vascularization
of the cornea follow.
• Ocular surface wetting disorders,
B symblepharon and entropion are
Figures 18.3.1A and B: Chemical injuries long-term problems.
Sankara Nethralaya
391
Corneal Ulcer
• Corneal ulcer may be bacterial, • Conjunctival swab and corneal
fungal, viral or acanthamoeba scraping for microbiological
in origin. N. gonorrhoea, N. diagnosis in the form of smear for
meningitides, C. diphtheriae, H. staining and culture is mandatory
influenzae can penetrate intact to guide therapy.
corneal epithelium. Symptoms • Empiric therapy to be avoided as
are pain, redness, watering. it can promote resistance.
Trauma with vegetable matter
• Appropriate antimicrobial
may cause fungal infections.
therapy along with cycloplegic
• Bacterial and acanthamoeba agents to relieve pain.
keratitis may be associated with
Figure 18.3.2: Corneal ulcer
Photo Courtesy: Bhaskar Srinivasan, contact lens wear and poor
Sankara Nethralaya hygiene and maintenance.
Variable infiltrates and ulceration
may be present.
• Herpes viral keratitis may involve
skin.
Ophthalmia Neonatorum
• Defined as conjunctivitis • Gram staining and conjuntival
occurring in the neonatal period. scraping is done. Geimsa stain is
• Etiology may be chemical or also recommended.
infective. • Cultures on blood and chocolate
• Common organisms implicated agar is done.
in neonatal conjunctivitis are • Choice of antibiotic depends on
Gonococcus, Chlamydia, herpes culture and sensitivity report.
A
simplex and Staphylococcus Broad spectrum antibiotic
aureus. should be started till reports are
• Presenting features are lid edema, available.
conjunctival congestion and • In gonococcal infection frequent
copius mucopurulent discharge. irrigation of eye is recommended.
• Membrane formation can happen Systemically ceftriaxone in
in severe cases. divided dose of 30-50 mg/kg/day
B can be given IM or IV.
• Corneal perforation and scarring
Figures 18.3.3A and B: Ophthalmia is common in gonococcal • Chlamydial conjunctivitis is
neonatorum treated with oral erythromycin
Photo Courtesy: Namitha Bhuvaneshwari,
infection.
50 mg/kg along with topical
RIO GOH, Chennai
erythromycin drops.
392
Orbital Cellulitis
• Presents with lid edema, pain, • Hospitalization.
proptosis. • CT scan orbit to look for presence
• Pain on palpation and limitation of subperiosteal abscess.
of eye movements. • Monitoring of vision and pupils.
• Loss of vision and afferent • Parenteral antibiotics.
papillary defect may also be
• ENT consultation.
A present.
• Child is systemically ill with fever.
• Usually a microbial infection due
to penetrating lid trauma, sinus or
dental infection.
Figures 18.3.4A and B: (A) CT scan;

(B) Orbital cellulitis

Sankara Nethralaya
Orbital Floor Fracture

• Caused by a sudden increase • CT scan of orbit with coronal
in orbital pressure by a striking sections to show the extent of the
object like a tennis ball. fracture.
• Ecchymoses, edema may be seen. • Conservative line of management.
• Diplopia due to entrapment of the • Antibiotics if maxillary sinus is
inferior rectus or inferior oblique involved.
A muscle in the fracture, or direct • Patient instructed not to blow
injury. nose.
• Enophthalmos is present in severe • Surgical intervention if persistent
fractures. diplopia or cosmetically
• Infraorbial anesthesia involving bothersome enophthalmos.
the lower lid, cheek, nose on that
side and upper lip may be due
to the fracture line through the
B infraorbital canal.
Figures 18.3.5A and B: Orbital floor fracture
Sankara Nethralaya
393
Penetrating Injury
• May occur commonly as domestic • No topical antibiotics in an open

accidents, in sports by flying globe.
objects or sharp objects such as • Apply a patch or an eye shield.
knives.
• Surgical repair as early as
• Variable damage to ocular possible.
structures.
• Tetanus prophylaxis.
• May range from simple corneal
laceration to severe trauma
causing intraocular damage,
injury to the lens, iris prolapse,
Figure 18.3.6: Penetrating injury and retinal injury.
Sankara Nethralaya
Preseptal Cellulitis
• Bacterial infection of eyelid and • Complete ophthalmic evaluation
adnexa. is essential to rule out orbital
• Presents with erythema and involvement. This includes vision,
swelling of lids. There is pupillary evaluation, ocular
conjunctivitis and epiphora. motility and fundus examination.
Child may have fever. • WBC counts and culture of
• Preauricular lymphadenopathy discharge can be done. CT scan
may be present. can be done if there are signs of
orbital involvement like limited
• Common causes are styes,
Figure 18.3.7: Preseptal cellulitis motility or RAPD.
chalazions, trauma, insect bites,
Photo Courtesy: Bipasha Mukherjee, • Oral and topical antibiotics
Sankara Nethralaya etc.
like Augmentin or third
• It is important to differentiate
generation cephalosporins. Anti-
from orbital cellulitis which is an
inflammatory agents can be given
ophthalmic emergency.
orally.
• Surgical drainage is required if
there is involvement of orbit or
signs of compression of optic
nerve.
394
18.4 SYNDROMES
Bardet-Biedl Syndrome
• Bardet-Biedl syndrome is an • No effective treatment is available
autosomal recessive condition for the ophthalmic condition.
that includes pigmentary Treatment of refractive errors and
retinopathy, polydactyly, renal use of low vision aids may play a
dysfunction, short stature role.
with truncal obesity, mental • All patients need renal evalution
retardation and frequently and some may even require a
hypogenitalism. renal transplant during teenage
• Fundus picture may appear years.
typical of retinitis pigmentosa or
Figure 18.4.1: Bardet-Biedl syndrome only a mild RPE granularity.
Photo Courtesy: Soumitra, VRF
• Symptoms are night vision
problem, progressive acuity loss
and field constrictions.
• Renal disease may lead to

premature death.
Blepharophimosis Syndrome
• This is a syndrome characterized • Lid abnormalities need surgical
by complex lid malformation intervention. Multiple surgeries
• The four components are ptosis, may be required.
telecanthus, blepharophimosis • Canthoplasty is done to correct
and epicanthus inversus. telecathus.
• Other ocular associations are • This is followed by surgery for
strabismus, refractive errors and epicanthal fold, followed by ptosis
amblyopia. surgery.
• It is also associated with • Refractive correction is given
Figure 18.4.2: Blepharophimosis syndrome premature ovarian failure. and amblyopia is managed by
Photo Courtesy: Bipasha Mukherjee, occlusion.
Sankara Nethralaya
• Hormone replacement therapy
for premature ovarian failure.
395
Crouzon Syndrome
• Crouzon syndrome is a • Treatment of ocular conditions

craniosynostosis syndrome aim at addressing possible
(premature closure of the individual features like
coronal and saggital sutures) strabismus, exposure keratopathy,
characterized by raised etc.
intracranial pressure, kinking and • Craniotomies have been tried to
stretching of the optic nerves or relieve optic nerve compression.
narrowed optic canals all leading
to progressive optic atrophy.
• Other ocular features are shallow
Figure 18.4.3: Crouzon syndrome orbits, hyperteleorism, V pattern
Photo Courtesy: S Meenakshi, exotropia and hypertropia.
Sankara Nethralaya Exposure keratopathy, aniridia,
ectopia lentis, cataracts,
glaucoma, etc. can also be
associated.
• Systemic feautres are midfacial

hypoplasia, prognanthism, etc.
Down’s Syndrome
• Multi system involvement • Blepharitis requires lid hygiene
resulting from trisomy of and topical antibiotic ointment.
chromsome 21. Eyes are involved Refractive errors require
in 60% of the affected individuals. corrective glasses.
• Ocular features are narrow • Cataract and strabismus may
and slanted palpebral fissures need appropriate surgical
and floppy eyelids, blepharitis, intervention.
nasolacrimal duct obstruction.
• Anterior segment anomalies
Figure 18.4.4: Down’s syndrome include Bruschfield spots on iris,
and cataract.
Sankara Nethralaya
• Refractive errors, strabismus
and nystagmus are common
features in patients with Down’s
syndrome.
396
Goldenhar Syndrome
• Goldenhar syndrome comprises • Ophthalmic conditions are

of complex of hemifacial treated conservatively or with
microsomia, preauricular tags, appropriate surgeries depending
auricular abnormalities, vertebral on the clinical features.
abnormalities and epibulbar • Similarly, systemic defects need a
dermoids. multidisciplinary approach.
• Duane’s syndrome, sixth or fourth
nerve palsies can be associated.
• CNS associations include
hydrocephalus and Arnold-Chiari
Figure 18.4.5: Goldenhar syndrome malformations.
Sankara Nethralaya
• It is nonhereditary with male
preponderence.

Marfan’s Syndrome
• Marfan’s syndrome is a • For subluxations, if asymptomatic

connective tissue syndrome can be observed. High myopia
associated with cardiomyopathy, and moderate astigmatism can be
tall stature with long extremities corrected with glasses.
and kyphoscoliosis. • Surgical removal of lens is
• Typically there is bilateral lens warrented for gross subluxations,
subluxation superiorly and uncorrectable high refractive
temporally. There can also be errors, cataracts, total dislocations
marked astigmatism, acquired and for pupillary blocks.
A
myopia, cataract, etc. Patients • Patients need referral to
carry a high-risk of retinal cardiologist for management and
detachments. follow-up of associated cardiac
• Mode of inheritance is autosomal anomalies.
dominant.
B
Figures 18.4.6A and B: Marfan’s syndrome
Sankara Nethralaya
397
Neurofibromatosis (NF)
• NF-1 is the most common • Treatment depends on the
phakomatosis with dominant findings.
inheritance. • Genetic counseling is essential.
• Ocular signs are plexiform • Psychological support and
neurofibroma of lid and counselling for the individual and
conjunctiva, glaucoma, pulsating the family.
proptosis, prominant corneal
nerves, myelinated nerves, etc.
A • Optic nerve and chiasmal gliomas
can occur.
• NF-2 can have posterior
subcapsular cataract.
Figures 18.4.7A and B: Neurofibromatosis

Sankara Nethralaya
• It is a rare neurocutaneous • Children with Sturge-Weber

disorder presenting with syndrome need regular
angiomas in leptomeninges and monitoring of intraocular
skin, typically on face. pressure as glaucoma may
• The most characteristic clinical develop later also.
feature is port wine stain on face. • Glaucoma may need multiple
• Other systemic manifestations surgical interventions and often
include seizures, developmental require antiglaucoma medication
delay, hemiparesis and headache. in addition.
Hemiparesis could be transient. • Laser may be required to correct
• Ocular involvement is in form cosmetic blemish caused by port
of glaucoma. Risk of glaucoma wine stain.
increases if port wine stain
involves upper lid. Glaucoma is
caused by increased episcleral
venous pressure or due to angle
abnormalities.
• Choroidal hemangioma
Sankara Nethralaya may cause a tomato ketchup
appearance in the fundus.
398
Section 19
Otorhinolaryngology
Section Editor
Divya Prabhat
Photo Courtesy
Divya Prabhat

19.3 ENT Emergencies
19.4 Syndromes
Section Outline
19.1 COMMON CONDITIONS 401 ♦ Ear Tags 411
♦ Acute Otitis Media (AOM) 401 ♦ Ethmoiditis—Orbital Cellulitis 411
♦ Adenoid—Facies 401 ♦ Hemangioma 411
♦ Allergic Rhinitis—Comorbidities 401 ♦ Juvenile Angiofibroma 412
♦ Allergic Rhinitis—Signs 402 ♦ Laryngeal Papilloma 412
♦ Antrochoanal Polyp 402 ♦ Laryngomalacia 412
♦ BERA 402 ♦ Microcephaly 413
♦ Ear Discharge 403 ♦ Esophageal Foreign Body 413
♦ Ear Syringing 403 ♦ Otoacoustic Emissions (OAE) 413
♦ Ear Wax 403 ♦ Pinna-hematoma 414
♦ ENT Examination 404
♦ Preauricular Sinus 414
♦ Ethmoidal Polyp 404
♦ Thyroid 414
♦ Facial Palsy 404
♦ Tongue Tie 415
♦ Furunculosis Ear 405 19.3 ENT EMERGENCIES 415
♦ Grommet 405 ♦ Ear Bleed 415
♦ Hearing Loss 405 ♦ Epistaxis 415
♦ Impedance Audiometry 406 ♦ Facial Trauma 416
♦ Nasal Examination 406 ♦ Foreign Body Bronchus (Collapse) 416
♦ Otoscopy 406 ♦ Foreign Body Bronchus (Typical Case) 416
♦ Pure Tone Audiometry 407 ♦ Foreign Body Bronchus X-rays 417
♦ Safe Ear—Central Perforation 407 ♦ Foreign Body—Nose 417
♦ Tonsillectomy 407 ♦ Fracture Nasal Bone 418
♦ Unsafe Ear—Attic Perforation 408 ♦ Kommerell’s Diverticulum 418
♦ Vocal Nodules 408 ♦ Retropharyngeal Abscess 419
♦ Voice—Conditions 408 ♦ Septal Hematoma 419
♦ Stridor—Signs 419
♦ Stridor—Sites 420
♦ Branchial Fistula 409
♦ Tracheotomy 420
♦ Choanal Atresia 409
♦ Cleft Palate 409 19.4 SYNDROMES 420
♦ Cochlear Implant 410 ♦ Down’s Syndrome 420
♦ Congenital Ear 410 ♦ Obstructive Sleep Apnea Syndrome (OSAS) 421
♦ Cystic Hygroma 410 ♦ Vactral Syndrome 421
Acute Otitis Media (AOM)

The congested and bulging ear • One of the most common emer-
drum. gencies in a child.
• Enlarged Adenoids, vomitus and
milk may block the tubes.
• Antibiotics for 7 to 10 days.
• Analgesics and antihistamincs for
upper respiratory tract infection
(URTI).
• For recurrent AOM do hearing
tests.
Figure 19.1.1: Acute otitis media

Photo Courtesy: Divya Prabhat

Adenoid—Facies
Facies and compromised airway. • Vacant expression.
• Open mouth.
• Pinched nostrils.
• Maxillary hypoplasia.
• Protuding incisors.
• High arched palate.
• Deafness.
• X-ray is diagnostic.
• Treatment with steroid nasal
sprays and antihistaminics.
Figure 19.1.2: Adenoid—Facies
Allergic Rhinitis—Comorbidities
The mucosal continuity. • Sinusitis.
• Adenoids.
• Otitis media.
• Snoring—Obstructive sleep ap-
nea syndrome (OSAS).
• Pharyngitis.
• Asthma.
Figure 19.1.3: Allergic rhinitis—comorbidities
Photo Courtesy: Divya Prabhat 401
Allergic Rhinitis—Signs
The allergic salute. • Allergic salute.
• Nose wrinkling.
• Darriers line.
• Boggy mucosa and turbinates.
• Clear transudate.
Figure 19.1.4: Allergic rhinitis—Signs

Antrochoanal Polyp
Polyp from the maxillary sinus • Seen in the second decade.

towards the nasopharynx. • Arises from the Maxillary sinus.
• Etiology: Infection.
• Grows towards the Nasopharynx.
• Always a single/unilateral polyp.
• Removal by sinus endoscopy.
Figure 19.1.5: Nasal polyp—Antrochoanal

BERA
The waves representing the • Done at any age—from newborn
complete auditory pathway. to adolescents.
• Gives the pathway from auditory
nerve to brainstem.
• Objective test.
• Must for high-risk babies, adop-
tion candidates, postmeningitis,
jaundice, MR-CP or delayed
speech, etc.
A
402 Figure 19.1.6A and B: BERA

Ear Discharge
The canal edema with ear discharge. Otitis media:
• Ear canal is normal.
• Movement of the pinna is pain-
less.
• Treat the URTI.
Otitis externa:
• Ear canal is inflamed.
• Movement of the pinna is very
painful.
• Anti-inflammatory agents.
Figure 19.1.7: Ear discharge


Ear Syringing
The direction of water during • Done for wax, fungus or foreign
syringing. body removal.
• Child in the sitting position.
• Firmly held before procedure.
• Pull the pinna downwards and
backwards.
• Water at body temperature.
• Direction of water upwards and
backwards.
Figure 19.1.8: Syringing the ear • Dry the ear after the procedure.
Ear Wax
The ear canal filled with brownish • The most common cause of ear-
material. ache in children.
• Ear buds would further impact
the wax.
• Wax dissolving drops advised for
a week.
• Syringing the ear may be done if
wax does not clear up with drops.
Figure 19.1.9: Ear wax

403
ENT Examination
Position of holding a child during • Child held firmly.
ENT examination. • One hand on the head.
• Other hand holding hands of the
child.
• Legs crossed and held between
legs of the parent.
Figure 19.1.10: ENT examination

Ethmoidal Polyp
Mulitple polyps bilaterally. • Arises from ethmoid sinuses.
• Etiology: Allergy.
• Always: Bilateral and multiple.
• Appear like bunch of grapes on
rhinoscopy.
• Antihistaminics, steroid nasal
sprays and avoidence of allergens.
A • Endoscopic removal for resistant
cases.
Figures 19.1.11A and B: Ethmoidal polyp

Facial Palsy
Incomplete closure of the right eye. • Congenital.
• Birth trauma.
• Bells palsy.
• Acute otitis media.
• Unsafe ear (cholesteatoma).
• Head injury.
Treatment of the cause.
404 Figure 19.1.12: Facial palsy—LMN

Furunculosis Ear
Completely obstructed ear canal, • Movement of pinna is very pain-
in a 3 month child due to ear buds ful.
usage. • Anti-inflammatory agents are
enough.
• Antibiotics only if the child is
febrile.
• Drainage only if abscess forma-
tion occurs.
Figure 19.1.13: Furunculosis ear


Grommet
Placement of the grommet on either • Used for serous otitis media
side of the drum. (SOM)—Common cause of
delayed speech.
• Grommet is a ventilation tube for
the middle ear.
• Extruded on its own by the migra-
tion of epithelium peripherally.
• Improves hearing by drainage of
fluid.
Figure 19.1.14: Grommet

Hearing Loss
Types of hearing loss. • External ear—Wax, fungus, otitis
externa.
• Middle ear—Otitis media, perfo-
ration of drum, glue ear (fluid),
ossicular discontinuity.
• Inner ear—Meningitis, ototoxicity,
genetic disorders, etc. (sensory).
• Neural—Auditory nerve to brain-
stem.
Figure 19.1.15: Hearing loss

405
Impedance Audiometry
Graphs in various conditions of the • Done from newborn and above.
middle ear. • Diagnose the exact middle ear
pathology.
• Most reliable test to detect fluid
in the middle ear—serous otitis
media (SOM).
A
• Useful for delayed speech,
eustachian dysfunction, LD, etc.
B
Figures 19.1.16A and B: Impedance audiometry
Nasal Examination
Nasal septum is dislocated to the left • In children avoid using instru-
anteriorly. ments to examine.
• Elevating tip of nose with thumb
is enough.
• Deviated septum is noted in the
picture.
• Little’s area, Retrocollumellar vein
(cause of epistaxis), polyps and
turbinates can be seen.
Figure 19.1.17: Nasal examination
Otoscopy
Method of holding the otoscope. • Child held firmly by the parent/
nurse.
• Little finger of examiner (with
scope) rests against child’s face.
• Ear speculum size chosen as per
size of canal.
A
• Pull the pinna downwards and
backwards to visualize the ear
drum.
406 Figures 19.1.18A and B: Otoscopy examination

Pure Tone Audiometry

Child responds to the sounds. • Tests reliable in children above 5
years.
• Red color indicates the right and
blue the left ear.
• Continuous line is for air conduc-
tion and the intermittent for bone
A conduction.
• Both lines are down seen in
Sensorineural hearing loss.
• Gap between the two lines seen in
conductive hearing loss.
Figures 19.1.19A and B: Pure tone audiometry

Safe Ear—Central Perforation

Large central perforation involving • Profuse ear discharge.
all four quadrants. • Odorless discharge.
• Associated with respiratory tract
infections.
• Conductive deafness.
• Antibiotics and antihistamines
advised.
• Tympanoplasty for large perfora-
tions only.
Figure 19.1.20: Safe ear—Central perforation

Tonsillectomy
Enlarged tonsils with prominent • Incidence has reduced signifi-
crypts. cantly-indications being.
• Recurrent URTI with high fever
(5 to 7 in a year).
• Failure to thrive.
• Difficulty in breathing, speech
and/or deglutition.
• Ear discharge or bilateral neck
nodes not clearing with antibiotics.
Figure 19.1.21: Tonsillectomy 407
Unsafe Ear—Attic Perforation

The Pars flaccid (attic) also shows a • Scanty ear discharge.
perforation. • Foul odor (due to cholesteatoma).
• Not related to respiratory
infections.
• X-ray mastoid shows destruction.
• Mixed hearing loss.
• Mastoidectomy required.
Figure 19.1.22: Unsafe ear—Attic perforation

Vocal Nodules
Nodule formation at junction of ant • The most common cause of
1/3rd with post 2/3rd. hoarseness of voice.
• Following screaming, shouting,
vocal abuse.
• Look for focus of infection, e.g.
tonsil or dental.
• Voice rest and speech therapy is
the treatment.
• Rarely surgery is required.
Figure 19.1.23: Vocal nodules
Voice—Conditions
The anterior glottic web. • Gruff: Chronic laryngitis/heman-
gioma.
• Muffled: Cyst/epiglottitis/retro-
pharyngeal abscess.
• Breathy: Granuloma/nodules/
palsy.
• High pitched: Web (Fig. 19.1.24)/
endocrine disorders.
• With cough: Allergic/GE reflux/
lower respiratory tract infection
(LRTI).
Figure 19.1.24: Voice—conditions
408 Photo Courtesy: Divya Prabhat • Aphonia: Foreign body/psycho-
logical.
Branchial Fistula
Surgical excision along the length of • Developmental arch abnormality.
tract. • Small opening on the neck ante-
riorly.
• Recurrent pus discharge is treated
with antibiotics.
• Surgical excision of the complete
tract for recurrent infections or
abscess formations.
Figure 19.2.1: Branchial fistula

Choanal Atresia
Nasal tube introduced as stents after • Fifty percent of bilateral choanal
surgery. atresia associated with other con-
genital anamolies.
• Air blast tested by misting on
tongue depressor or introduce a
rubber catheter in the nostrils.
• Child breathless during feeds.
• Bilateral repaired immediately
and unilateral around 2 to 3 years.
Figure 19.2.2: Choanal atresia
Cleft Palate
Wide gap in the palate. • Birth defect, may also affect upper
lip.
• Problems of speech, feeding and
otitis media.
• Closure of the palate done around
first year, so that speech develops
normally.
• Deafness also needs to be treated
due to glue ear.
Figure 19.2.3: Cleft palate • Orthodontic management.
Cochlear Implant
External and internal parts of • For bilateral severe-profound
cochlear implant. sensorineural hearing loss not
benefiting with a hearing aid.
• Done from 10 months upwards.
• As natural speech development is
A
over by 5 years, so should be done
before this age.
• BERA, CT scan, MRI, neurology
and psychological assessment a
must.
• X-ray shows postoperative
B implant with electrodes into the
Figures 19.2.4A and B: Cochlear implant cochlea.
Congenital Ear
Malformed pinna. • Pinna not completely formed.
• CT scan is done to detect whether
the cochlea is developed.
• BERA for the auditory pathway.
• Look for other congenital anamo-
lies.
• Priorty is to correct deafness and
not cosmetic correction of pinna,
which can wait.
Figure 19.2.5: Congenital ear
Cystic Hygroma
Neck bulge laterally. • The cyst may not be recognized
at birth.
• Typically grows as the child does.
• Discovered as a neck mass in
infants after respiratory infections.
• Ultrasound/CT scan.
• Treatment is surgical removal of
abnormal tissue, as possible.
• Local injection of sclerosing
agents can be attempted.
Figure 19.2.6: Cystic hygroma
410
Ear Tags
The preauricular area. • Pedunculated skin that arise near
the tragus.
• They may have cartilagenous
components but do not commu-
nicate with ear canal or middle
ear.
• Can be left alone.
• Removal only for cosmetic
reasons.
Figure 19.2.7: Ear tags

Ethmoiditis—Orbital Cellulitis

Reduction of cellulitis following • From unresolved ethmoidal
nasal endoscopy. sinusitis.
• Via lamina papyracea.
• Injectable antibiotics and nasal
decongestants.
A
• Drainage of abscess by nasal
endoscopic sinus surgery.
B
Figures 19.2.8A and B: Ethmoiditis—Orbital
cellulitis
Hemangioma
Hemangioma at the tip of the nose • Congenital condition.
and floor of mouth. • Look for other areas involved.
• May resolve with time, so wait
and watch policy.
• Local injections of bleomycin at
A
weekly intervals is the treatment
of choice.
Figures 19.2.9A and B: Hemangioma

411
Juvenile Angiofibroma
Tumor enhancement seen. • Seen exclusively in adolescent
boys.
• Nasal block and epistaxis.
• Origin in nasopharynx.
• CT-Angio scan diagnostic.
• Nonmalignant and highly
vascular.
• Surgical removal is the treatment.
Figure 19.2.10: Juvenile angiofibroma
Laryngeal Papilloma
Laryngeal inlet blocked by • Hoarseness or respiratory
papillomatous growth. distress.

• Resolves by puberty.
• Direct laryngocopy done with
biopsy.
• Never undergoes malignancy.
• Laser assisted removal of papil-
loma done.
• Tracheostomy may be required
for extensive papillomatosis.
Figure 19.2.11: Laryngeal papilloma
Laryngomalacia
Folded epiglottis and narrow inlet. • Crowing noise.
• Folded epiglottis.
• Normal sized tube.
• Not all children affected.
• Failure to thrive.
• Disappears by 2 to 5 years.
• Surgical treatment usually not
required.
Figure 19.2.12: Laryngomalacia

(Congenital laryngeal stridor)
412 Photo Courtesy: Divya Prabhat
Microcephaly
Retrognathia-jaw retracted. • Delayed milestones.

• Associated anamolies.
• Stridor due to central and local
causes.
• BERA for detection of a hearing
deficit.
• Hearing rehabilitation for natural
speech development.
Figure 19.2.13: Microcephaly

Esophageal Foreign Body

Coin in the AP and lateral view. • Coin is the most common foreign
body.
• Site of impaction is usually at
cricopharynx.
• Round foreign bodies, lower
down the cricopharynx generally
pass down.
A B
• Always ask for AP and Lateral
Figures 19.2.14A and B: Esophageal foreign
body
view X-rays.
Photo Courtesy: Divya Prabhat • Esophagoscopy for stationary
foreign bodies.
Otoacoustic Emissions (OAE)

Ear plug delivers click sound. • Tests the function of the outer
hair cells of the cochlea.
• Must be done as a screening hear-
ing test for all high-risk babies.
• Apgar score <5, on ventilator for >4
days, meningitis, blood transfusion,
neonatal jaundice, adoption, etc.
Figure 19.2.15: Otoacoustic emissions (OAE)

Pinna-hematoma
Collection of blood causing swollen • Following injury—boxing, slap or
pinna. twisting ear.
• Anti-inflammatory drug are usu-
ally enough.
• Drainage must be done in aseptic
conditions.
• Tight dressings to prevent
recurrences.
• Perichondritis or cauliflower ear
are the complications.
Figure 19.2.16: Pinna-hematoma

Preauricular Sinus
Opening anterior to the pinna. • Congenital.
• Always examine both sides.
• Pus discharge needs antibiotics.
• Recurrent infections lead to ab-
scess formation.
• Surgical excision of the tract may
be needed.
Figure 19.2.17: Preauricular sinus

Thyroid
Neck swelling moving on • May be congenital.
deglutition. • Chances of malignancy are high.
• Thyroid scan a must.
• Thyroid function tests.
• Calcium/Phosphorus levels.
• Anti-TPO antibodies.
• Se Calcitonin levels.
• Fine needle aspiration cytology
(FNAC) and CT scan.
Figure 19.2.18: Thyroid
• Thyroidectomy SOS.
Tongue Tie
Frenulum preventing complete • A congenital anamoly, known as
tongue movement. ankyloglossia as decreases the
mobility of the tongue.
• May cause disarticulation in
about 50% of children.
• Speech therapy and wait and
watch policy adopted.
• Frenotomy may be considered for
speech, feeding or social prob-
Figure 19.2.19: Tongue tie lems.
19.3 ENT EMERGENCIES

Ear Bleed
Blood clots from the ear canal. • Due to usage of buds, pin, pencil,
etc.
• Blood stained discharge due to
ear polyp/granulations or an
unsafe ear.
• Avoid instrumentation/cleaning
or any ear drops.
• Dry cotton will generally stop the
bleed.
Figure 19.3.1: Ear bleed

Epistaxis
Site of pinching the nostrils. • Pinch nostrils for 5 minutes at
Little’s area (lower down) and not
at the nasal bones.
• Postnasal bleed, to spit into the
basin.
• Ice compressions.
• Anterior nasal packs (gauze strip)
soaked with dilute adrenaline.
Figure 19.3.2: Epistaxis

415
Facial Trauma
Multiple facial injuries. • Facial and neck trauma occur
frequently in children.
• Most result in soft tissue injuries.
• Fortunately, serious facial frac-
A B
tures are uncommon.
Figures 19.3.3A and B: Facial trauma
• Laceration (cuts) that are disfig-
uring are closed by suturing, to
minimize the scarring.
Foreign Body Bronchus (Collapse)

Complete collapse of right lobe in a • Progressive breathlessness.
10 months old child. • Collapse (R) side.
• Compensatory emphysema
(L) side.
• Suspect FB/mucous plug
(R) main bronchus.
• Bronchoscopy for removal.
Figure 19.3.4: Foreign body bronchus

(Collapse)
Foreign Body Bronchus (Typical Case)

Foreign body in the right bronchus. • Persisting cough.
• Improves with antibiotics, bron-
chodilators, steroids.
• Recurrent respiratory tract infec-
tions.
• Hematology normal.
• Suspect foreign body.
A
• CT scan diagnostic of FB.
Figures 19.3.5A and B: Foreign body bronchus

(typical case)
Foreign Body Bronchus X-rays
Lung changes to different types of • Bypass valve, e.g. ring, button.

foreign bodies. • One way valve, e.g. metallic
foreign body.
• Stop valve, e.g. nut, pea, bean
(hygroscopic foreign body), etc.

B
Figures 19.3.6A and B: Foreign body bronchus

X-rays
Foreign Body—Nose
Instrument going beyond the • Unilateral Nasal block with puru-
foreign body. lent discharge.
• Removed by going beyond the FB.
• Avoid using forceps, which
further push the FB behind.
• Only an impacted FB or a rhino-
lith may require general anesthe-
sia for its removal.
Figure 19.3.7: Foreign body—Nose

417
Fracture Nasal Bone

Edema around the nasal bridge and • Postnasal bleeding.
blood clots. • CSF rhinorrhea.
• Septal hematoma.
• Lamina papyracea damage (eye
movement).
• Frontal lobe trauma (neurologic
examination).
Figure 19.3.8: Fracture nasal bone

Kommerell’s Diverticulum
Compression of the trachea and • Embryogenically, persistent
esophagus. aortic arch.

• Respiratory symptoms due to
complete vascular ring.
• Dysphagia due to pressure on the
esophagus (arrow).
• Barium swallow and cardic MRI
A
are diagnostic.
• The repair is done via thora-
cotomy.
Figures 19.3.9A and B: Kommerell’s

diverticulum
418
Retropharyngeal Abscess
Increase in the prevertebral space. • Present with dysphagia, stridor
and hoarseness.
• Check for tonsillitis, dental infec-
tion or foreign bodies.
• Intravenous antibiotics and watch
O2 saturation.
• SOS drainage or aspiration of
abscess.
• Tracheostomy if stridor.

Figure 19.3.10: Retropharyngeal abscess
Septal Hematoma
Septal bulge in both nostrils. • Nasal block and history of injury.
• Require urgent medical attention.
• Nasal cartilage can necrose in 24
hours and result in saddle nose
deformity.
• Treatment is surgical drainage of
the hematoma and nasal packing.
Figure 19.3.11: Septal hematoma

Stridor—Signs
Signs seen in the child with stridor. • Not a diagnosis; is a symptom or
sign.
• Suprasternal retraction and
subcostal indrawing (Fig. 19.3.12).
• Continous more serious.
• Congenital stridor appears after
URTI.
• Rising pulse is the most reliable
sign.
Figure 19.3.12: Stridor—Signs
Photo Courtesy: Divya Prabhat • Poor nutrition, obesity and
anemia will all worsen stridor.
• Lastly intubation or tracheos-
tomy. 419
Stridor—Sites
Different levels of involvement • Inspiratory—Supraglottis (laryn-
causing stridor. gomalacia).
• Biphasic-glottis/subglottis (papil-
loma, vocal cord palsy, stenosis).
• Expiratory—Bronchi (foreign
bodies).
Figure 19.3.13: Stridor—Sites

Tracheotomy
Opening of the trachea and portex • Bypass the upper-airway obstruc-
tube introduction. tion.
• Reduction of dead space.

• Access to lower airways.
• Easy induction.
A (No contraindications for a
tracheotomy).
Figures 19.3.14A and B: Tracheotomy

19.4 SYNDROMES
Down’s Syndrome
Protuding and large tongue. • Stridor on lying down.
• Macroglossia and narrow na-
sopharynx cause the tongue fall.
• Enlarged lingual tonsils add to the
problems.
• Prone or semi position is advised.
• Extreme cases a tongue stich is
required.
Figure 19.4.1: Downs syndrome

420
Obstructive Sleep Apnea Syndrome (OSAS)

Hypertrophied adenoids and • Excessive day time sleepiness.
tonsils. • Abnormal weight gain.
• Recent eneuresis.
• School performance affected.
• Progressive hypertension.
A
• Need tonsil-adenoidectomy.
Figures 19.4.2A and B: Snoring—OSAS


Vactral Syndrome
Midline congenital deformity. • Vertebral anamolies.
• Imperforate anus.
• Cardiac defects.
• Tracheoesophageal fistula.
• Renal anamolies.
• Limb abnormalities.
Figure 19.4.3: Vactral syndrome

421
Section 20
Pediatric Surgery
Section Editors
Ketan Parikh, Arbinder Kumar Singal
Photo Courtesy
Amrish Vaidya, Arbinder Kumar Singal, Ketan Parikh, Manish Jain, Rasik Shah
20.1 Common External Conditions

20.2 Head and Neck Conditions
20.3 Chest and Diaphragm
20.4 Gastrointestinal and Hepatobiliary Disorders
20.5 Pediatric Urological Conditions
20.6 Solid Tumors of Childhood
Section Outline
20.1 COMMON EXTERNAL CONDITIONS 425 ♦ Gastroesophageal Reflux (GER) 435
♦ Abscess 425 ♦ Gastroschisis 435
♦ Cleft Lip and Palate 425 ♦ High-ARM 435
♦ Congenital Hydrocele 425 ♦ Hirschsprung’s Disease 436
♦ Hemangioma 426 ♦ Idiopathic Hypertrophic Pyloric Stenosis (IHPS) 436
♦ Hydrocephalus 426 ♦ Intestinal Roundworm Infestations 437
♦ Inguinal Hernia 426 ♦ Intussusception 437
♦ Labial Adhesions 427 ♦ Jejuno-ileal Atresia 437
♦ Meningocele/Meningomyelocele 427 ♦ Low ARM—Male 438
♦ Necrotizing Fasciitis 427 ♦ Malrotation 438
♦ Phimosis 428 ♦ Meckel’s Diverticulum 438
♦ Umbilical Hernia 428 ♦ Meconium Peritonitis 439
♦ Umbilical Polyp/Granuloma 428 ♦ Necrotizing Enterocolitis 439
♦ Undescended Testis 429 ♦ Peritonitis/Intestinal Obstruction 439
♦ Rectal Polyp 440
20.2 HEAD AND NECK CONDITIONS 429
♦ Rectovestibular Fistula (RVF) 440
♦ Branchial Cyst/Sinus 429
♦ Cystic Hygroma 429 20.5 PEDIATRIC UROLOGICAL CONDITIONS 440
♦ Ranula 430 ♦ Antenatally Diagnosed Hydronephrosis —Bilateral
♦ Thyroglossal Cyst and Sinus 430 (PUV) 440
♦ Torticollis 430 ♦ Antenatally Diagnosed Hydronephrosis (ADH)—
20.3 CHEST AND DIAPHRAGM 431 Unilateral 441

♦ Airway Foreign Body (FB) 431 ♦ Calculi 441
♦ Congenital Cystadenomatoid Malformation 431 ♦ Disorder of Sex Development (DSD) 441
♦ Congenital Diaphragmatic Hernia (CDH) 431 ♦ Epispadias 442
♦ Empyema 432 ♦ Exstrophy 442
♦ Pneumothorax 432 ♦ Hypospadias 442
♦ Tracheoesophageal Fistula (TEF) 432 ♦ Neuropathic Bladder 443

♦ Pelvi-ureteric Junction Obstruction 443
20.4 GASTROINTESTINAL AND HEPATOBILIARY ♦ Testicular Torsion 443
DISORDERS 433 ♦ Ureterocele 444
♦ Achalasia Cardia 433
♦ Vesicoureteric Reflux (VUR) 444
♦ Biliary Atresia 433
♦ Choledochal Cyst 433 20.6 SOLID TUMORS OF CHILDHOOD 444
♦ Cloaca 434 ♦ Neuroblastoma 444
♦ Duodenal Atresia 434 ♦ Sacrococcygeal Teratoma 445
♦ Exomphalos 434 ♦ Wilms’ Tumor 445
20.1 COMMON EXTERNAL CONDITIONS
Abscess
• Pain, redness and swelling are • Pus anywhere in the body should
indicative of inflammation but be removed at the earliest.
softening of tissues or fluctuation Pointing of the pus (due to
are definite indicators of pus secondary superficial necrosis)
collection. and spontaneous discharge
• In case of clinical doubt, USG may may occur in late cases but poor
help in deep-seated abscess but healing of resultant wound.
poor sensitivity. • Surgical drainage as early as
possible avoids the local and
systemic morbidity.
Figure 20.1.1: Abscess
Photo Courtesy: Ketan Parikh

Cleft Lip and Palate
• Cleft lip may be unilateral/ • Lip repair may be done at birth
bilateral. but preferably at 3 months age.
• Cleft palate leads to nasal • Palate repair after 9 months age.
regurgitation of feeds, nasal voice, • PRS may require RT feeds for few
recurrent URTI/ear infections. months.
• Feeding difficulties rare. • In severe cases of PRS, breathing
• In case of small mandible— difficulty—nursing in prone
Pierre-Robin syndrome (PRS)— position—SOS tracheostomy.
breathing difficulty due to tongue
Figure 20.1.2: Cleft lip and palate fall.
Congenital Hydrocele
• Swelling more likely to be scrotal • Complications not common.
(possible to get above swelling). • Spontaneous resolution is
• May be difficult to reduce, there common before 6 months of age.
may be diurnal variation in size • Surgery is thus indicated only
of swelling. Cystic consistency to if the swelling persists or is
feel. increasing in size.
• Transillumination positive. • Surgery: Herniotomy.
Figure 20.1.3: Congenital hydrocele

Photo Courtesy: Ketan Parikh 425
Hemangioma
• Diagnosis is almost always (Fig. 20.1.4A) Lesions which are
clinical. totally excisable without significant
• Occasionally, imaging necessary residual tissue loss are best excised
to differentiate from other surgically.
congenital lesions—Doppler, CT, (Fig. 20.1.4B) If surgical excision
MRI. is likely to lead to disfigurement—
A
intralesional injections—steroids or
oral propranolol or steroids.
B
Figures 20.1.4A and B: (A) 1, 2]Infra-orbital
lesion; 3] excised with primary closure; 4] mass
having significant subcutaneous element; 5]

no residual disfigurement; (B) Lesion on labia -
serial photographs after intralesional injections
Photo Courtesy: Ketan Parikh, Amrish Vaidya
Hydrocephalus
• Antenatal diagnosis easy on USG • Antenatal: Termination in
• Postnatally: Large head with selected cases.
sutural separation, open AF, • In case of increasing head
sun-setting sign. circumference or evidence of
increasing intracranial tension—
VP shunt is necessary.
• Endoscopic third
ventriculostomy—an option in
selected cases.
Figure 20.1.5: Hydrocephalus—the sun-setting

sign
Inguinal Hernia
• Inguinoscrotal swelling. • Diagnosis is essentially clinical
• Usually reducible. and imaging rarely indicated.
• Never resolves spontaneously. • High chances of strangulation
especially in newborns/
• Seen also in females where ovary
prematures.
could be a content of the sac
A B (inset). • Early surgery recommended—
Figures 20.1.6A and B: (A) Left inguinal hernia even in newborns.
in a male child; (B) Left inguinal hernia in a
426 female child (inset) ovary and adnexa in the
hernia sac
Labial Adhesions
• Superficial adhesions of labia • Release under mild sedation /
minora seen in prepubertal girls. surface anesthesia.
• Mostly asymptomatic but can lead • Recurrence prevention by local
to vulvitis or dysuria. application of estrogen cream.
• Diagnosis is based on clinical
examination alone and no further
tests are required.
Figure 20.1.7: Labial adhesions


Meningocele/Meningomyelocele
• The most common site is • Meningomyelocele—immediate
lumbosacral. cover with sterile moist
• Meningocele (skin covered), impervious (plastic) dressing.
A neurological deficit—governed by • Surgical correction preferable
size and location of defect. within 36 to 48 hours of birth.
• Meningomyelocele (exposed
neural tissue) high potential of
meningitis if not operated early.
B C
• Neurological deficit—invariable.
Figures 20.1.8A to C: (A) Skin covered lesion—
no emergency; (B) Open lesion; (C) Shows the
exposed neural tissue and dural sac
Necrotizing Fasciitis
It is a rapidly spreading Early aggressive drainage of all
subcutaneous infection infected tissue with adequate
in neonates/children with systemic support for control of
compromised immunity. infection minimizes morbidity and
mortality.
Figure 20.1.9: Necrotizing fasciitis 427

Photo Courtesy: Arbinder Kumar Singal
Phimosis
• Common problem in prepubertal Asymptomatic children till 5 to 6
boys and; physiological till 4 to 5 years should be left alone.
years of age. Treatment for symptomatic children:
• Considered pathological if there • Medical treatment with local
are symptoms like ballooning, betamethasone dipropionate.
A B dysuria, local infections
• Nonresponders or children
Figures 20.1.10A and B: Phimosis (balanoposthitis) or urinary
Photo Courtesy: Arbinder Kumar Singal with BXO should be offered
infections.
circumcision.
• Whitish scarring of foreskin
• Preputioplasty (prepuce
signifies balanitis xerotica
preserving surgery) is another
obilterans, (BXO) (Fig. 20.1.10B).
option.
Umbilical Hernia
• Common occurrence Surgery if:

• Usually resolves spontaneously by • Failure to close spontaneously.
2 years age. • In younger patients in case of
• May get strangulated even in emergency or history of recurrent
infancy. obstructions.
Figure 20.1.11: Umbilical hernia; protrusion of

umbilicus
Photo Courtesy: Rasik Shah
Umbilical Polyp/Granuloma
• Granuloma—common • Superficial application of silver
occurrence in infancy due to nitrate, etc. help only in case of
nonhealing umbilical stump. granuloma.
• Persistent discharge at • Ligation helps in most cases.
umbilicus—usually/sanguinous. • Recurrence: Suggestive of internal
• Polyp—mucosal surface with attachment.
mucoid discharge.
• Need to rule out sinus or fistula
with bladder/intestine.
Figure 20.1.12: Umbilical polyp/granuloma

428 Photo Courtesy: Ketan Parikh
Undescended Testis
• Undescended testis occurs in • If the testis does not come down
1/100 male birth but more than by 6 months, surgery is required.
50% of these complete their • Palpable UDT—daycare
descent by 4 to 5 months of age. orchiopexy.
• Clinical examination suffices • Nonpalpable UDT—diagnostic
for decision making. MRI/ laparoscopy and then staged or
USG are not considered 100% single stage orchiopexy.
reliable for diagnosing/ locating
undescended testis.
Figure 20.1.13: Undescended testis

20.2 HEAD AND NECK CONDITIONS

Branchial Cyst/Sinus
• Diagnosis—clinical • Surgical excision is the only
• Opening along the anterior border treatment.
of sternomastoid in lower 1/3, • Left inset: Excision of the entire
may be unilateral/bilateral. tract (usually till the bed of
• Sinus/fistula more common in tonsils) essential to prevent
children. Inner opening of fistula recurrence. This may require a
in pharynx. step-ladder incision.
• Complications: Infection, late
malignant changes.
Figure 20.2.1: Shows a case of bilateral
branchial fistula
Photo Courtesy: Rasik Shah
Cystic Hygroma
• Soft, lobulated, cystic, painless • Total excision is the treatment of
mass, brilliantly transilluminant. choice.
• Complications: Infection, • Aspiration in emergency cases
hemorrhage within mass, stridor/ only.
dyspnea/dysphagia. • Intralesional injections—an
option in selected cases.
Figure 20.2.2: Swelling in the neck and

axillary region
Ranula
Soft, cystic swelling in floor of • Excision—intraorally is
mouth under the tongue—may therapeutic.
cause tongue–fall and problems • Partial excision may lead to
with swallowing/breathing. recurrence.
Figure 20.2.3: Inset: External swelling visible

from floor of mouth
Thyroglossal Cyst and Sinus

• Midline swelling moves with • Need to rule out ectopic thyroid
deglutition and protrusion of tissue.
tongue. • Surgical excision—Sistrunks’
• If infected, may rupture externally operation—excision of entire tract
and lead to sinus formation. till base of tongue including body
of hyoid bone necessary.
Figure 20.2.4: Thyroglossal cyst and sinus

Torticollis
• Exact etiology unknown. • Physiotherapy involving exercises
• There may be a history of sterno of the neck—helpful in infancy.
mastoid tumor in infancy. Beyond • If the muscle is fibrotic, surgical
1 year of age—spontaneous release necessary—physiotherapy
resolution unlikely. required even after surgery to
• Untreated—may lead to hemi- correct the soft tissue.
hypoplasia of face and permanent
A B ocular manifestations
Figures 20.2.5A and B: (A) Patient seen in (Fig. 20.2.5B).
infancy; (B) Untreated case leading to hemi-
hypoplasia of face
430 Photo Courtesy: Rasik Shah
20.3 CHEST AND DIAPHRAGM
Airway Foreign Body (FB)

• Acute onset: Choking crisis, cough • Early removal of FB essential.
and stridor. • Bronchoscopy (rigid): Most
• Late cases: Recurrent localized effective. Presence of optical
pneumonia, lung abscess. forceps—a useful tool.
A B C
• X-ray: Diagnostic in most cases • Bronchotomy/lobectomy in
the most common finding is selected cases.
obstructive emphysema (best
seen in an expiratory film).
D E
other findings may be: collapse/
consolidation or radiopaque FB.
Figures 20.3.1A to E: (A) Right lower lobe
collapse-consolidation in case of an old FB • CT/virtual bronchoscopy: Helpful
confirmed on CT; (B, C) Radiopaque FB; but not 100% sensitive.
(D, E) Inspiratory and expiratory films in case
of radio-lucent FB- highlighting the obstructive • Diagnostic bronchoscopy in
emphysema on left side strong suspicion cases.

Congenital Cystadenomatoid Malformation

• Antenatal diagnosis: May resolve • Surgical excision of the affected
in selected cases. lobe of the lung is essential.
• Postnatally: Respiratory distress. • Prognosis—good in most cases
• Differential diagnosis: Congenital unless there is multiple lobe
diaphragmatic hernia (CDH), involvement.
especially if it is on left side.
• Imaging: X-ray/USG/CT scan.
Figure 20.3.2: Congenital cystic adenoid

malformation of lung
Congenital Diaphragmatic Hernia (CDH)

• Antenatal diagnosis: MTP in • Avoid bag—mask ventilation,
selected cases. intubate if indicated.
C
• Postnatal presentation: • Pass NG tube and keep it open to
Respiratory distress with a avoid aerophagia.
scaphoid abdomen, vomiting/ • Ventilatory support mostly
incidental diagnosis. required—some cases may require
A B D
Figures 20.3.3A to C: (A) Right sided hernia:

high frequency ventilation.
Liver ascended up (colon shadow at same level • Surgery after a period of
as stomach); (B) Left sided hernia with bowel; physiological stabilization—may
(C) CT scan of right hernia; (D) Thoracoscopic
view of the defect in diaphragm (arrow) take 1 to 5 days.
Photo Courtesy: Ketan Parikh • Express surgery—no more indicated.
431
Empyema
• Fever, respiratory distress, fullness • Early stage—for thin pus with no
of unilateral chest with restricted loculation: Intercostal drainage
ipsilateral movement. (ICD) alone may suffice.
• Imaging: USG important to • For thick pus/loculation: VATS
identify nature of fluid and drainage/decortication is the
loculations if any. treatment of choice.
• CT: To identify underlying • ICD with fibrinolytic therapy—an
pathology or abscess and option in selected intermediate
anatomical details. stage cases.
A B C
Figures 20.3.4A to C: Left sided empyema

(X-ray): (A) CT appearance with a thick peel
of empyema; (B) Fibrinopurulent exudates
removed during VATS; (C) Thoracoscopic view
(honeycomb) of the loculations
Photo Courtesy: Ketan Parikh,

Arbinder Kumar Singal
Pneumothorax
• Distress with fullness of chest on • Intercostal drainage.
one side. • Treatment of primary pathology.
• Clinically—resonant note and
decreased air entry.
• Diagnosis on chest X-ray.
• CT may be required if there is any
suspicion of lung cyst.
• Spontaneous pneumothorax—
in newborns or pulmonary
Figure 20.3.5: The collapsed lung at hilum pathologies.
differentiates from a cyst or congenital lobar
emphysema
Tracheoesophageal Fistula (TEF)

• Antenatal diagnosis—rare. • Surgery—after stabilization over
• Frothing—most common 24 to 48 hours.
B
presentation. • Aim: To disconnect tracheo-
• Vomiting/pneumonia in missed esophageal communication and
cases. to establish a safe orogastric
conduit.
• Aspiration syndrome in ‘H’ fistula.
A C D • Primary single stage surgery
• Failure to pass stiff oral tube
Figures 20.3.6A to D: (A) Lateral chest view
preferable, staged surgery in
(Fig. 20.3.6A)—clinically
with stiff rubber catheter in upper pouch selected cases.
diagnostic.
(red line), air esophagogram delineates • Postcorrection: Children prone to
lower pouch (white outline); (B) Varieties of
GER and tracheomalacia.
432 anomalies presenting at birth; (C, D) H fistula
on esophagogram and bronchoscopy
20.4 GASTROINTESTINAL AND HEPATOBILIARY DISORDERS
Achalasia Cardia
• Symptoms similar to GER • Surgical treatment indicated in
• Barium swallow is diagnostic. all symptomatic children, can be
done laparoscopically also
• Dilatation not recommended in
children.
Figure 20.4.1: Dilated esophagus with smooth

narrowing at cardia

Biliary Atresia
• Jaundice with claycolored stools • Very early diagnosis mandatory
due to atretic biliary tree for better outcome
• Direct hyperbilirubinemia since • Diagnostic laparoscopy with
early infancy. operative cholangiography to
• Clinically—firm hepatomegaly confirm diagnosis.
and distention • Kasai’s procedure
• USG—Gallbladder not seen, (Portoenterostomy) important.
HIDA scan shows—no excretion • Guarded prognosis and may
of radioisotope in bile. require liver transplant.
Figure 20.4.2: Icterus with hepatosplenomegaly

Choledochal Cyst
• Obstructive jaundice with fever • Excision of the cyst with drainage
and abdominal pain with or procedure usually curative.
without abdominal lump. • Recurrent cholangitis may need
• May present with just recurrent treatment.
episodes of pain abdomen and
fever
• Diagnosis: USG, MRCP.
Figure 20.4.3: Operative cholangiography

(needle thro’ GB) showing the fusiform
dilatation of CBD and near normal hepatic
ducts 433
Cloaca
• Single opening in perineum for • Colostomy at birth.
urethra, vagina and anus. • Staged repair after detailed
• High anomaly. delineation of pathological
• May be associated with other anatomy.
urogenital anomalies. • Outcome for continence-guarded.
Figure 20.4.4: Single opening

Duodenal Atresia
• Bilious or nonbilious • Metabolic correction is important
vomiting with rapid metabolic before surgery.
deterioration. • Surgery: Duodeno-duodenal or
• X-ray: Double bubble. duodeno-jejunal anastomosis.
• Rule out Down’s syndrome.
Figure 20.4.5: Duodenal atresia (Double

bubble sign with no distal gas)
Exomphalos
• Exomphalos—usually diagnosed Exomphalos minor: Usually
antenatally. Sac with loops seen excellent prognosis after surgical
clearly. correction.
• If syndromic, termination may be Exomphalos major: If possible
indicated. primary closure, if not—staged.
• Sac usually present, umbilical Initial management with scarifying
cord inserts on top of the sac. local agents and then closure later.
Figure 20.4.6: Omphalocele (exomphalos)

exomphalos major with intact sac
434 Photo Courtesy: Ketan Parikh
Gastroesophageal Reflux (GER)
Nonbilious vomiting, failure to gain Primary management—medical.

weight, bronchospasm, aspiration Indications for surgery—recurrent
syndrome. pneumonia, failure of medical
• Diagnosis—clinical history management, grade 3 GER, near
miss SIDS.
• Barium swallow to rule out
esophageal anomalies.
Milk/GER nuclear scan to diagnose
and grade reflux.
Figure 20.4.7: Ba swallow and milk scan: Grade

3 GER

Gastroschisis
• Antenatal diagnosis easy—free • Immediate neonatal
floating bowel loops in amniotic management: Plastic sterile
cavity cover to prevent infection and
• Nonsyndromic, maternal factors hypothermia during transport
contributory • Surgical correction on day 1 of life
• Intact umbilicus, and defect to the • May be staged or if possible
right side of umbilical ring primary closure.
• No sac, bowel often matted.
Figure 20.4.8: Matted bowel loops
High-ARM
• Flat perineum. • Staged repair—colostomy
• Internal fistula into urinary tract. followed by PSARP and then
colostomy closure.
• Always check for associated
anomalies of urinary tract and • Outcome dependent on level
Spine. of atresia and development of
levator ani.
Figure 20.4.9: Intermediate and high ARM

(male): Flat perineum
Hirschsprung’s Disease
Clinical features: • Conservative treatment: (Repeated
• Delayed passage of meconium and enemas with saline) may help to buy
neonatal abdominal distention. time.
A
• Constipation invariably dates back • Surgery involves excision of
to neonatal age or early infancy. aganglionic bowel and bringing
ganglionic bowel to the anus (may
• Gaseous abdominal distention—
be staged or single-stage, open or
with visible loops common.
laparoscopic).
B C • Per rectal exam: Blast sign—
• Long-term outcome: Usually very
Figures 20.4.10A to C: (A) Massive abdominal expulsion of gas and stools on PR
good.
distention; (B) Visible and palpable transverse examination. Seen in common
colon; (C) Barium enema showing the narrow
segment (white hollow arrow) classical
rectosigmoid variety, not in long
‘cone’(black arrow) and dilated segment (white segment.
block arrow)
• Barium enema shows transition
zone and proximal distended colon.
• Rectal biopsy shows absence of

ganglion cells in colon.
Idiopathic Hypertrophic Pyloric Stenosis (IHPS)

• Progressive, projectile, non- • Diagnosis: USG abdomen
bilious vomiting with visible showing pylorus longer than 14
peristalsis (left to right), mm and pyloric muscle thickness
progressive increase in frequency more than 6 mm.
and intensity of vomiting. • In doubtful cases—barium meal.
• Onset within first month, • Preoperative metabolic correction
incidence peaks at 3 weeks. important with replacement of
• Hypertrophied pylorus palpable sodium.
in 70% cases. • Surgery: Open/laparoscopic-
Figure 20.4.11: Visible peristalsis in a scaphoid
abdomen. Insets: string sign on Ba meal, excellent results with no long-
hypertrophied pylorus (pre- and postmyotomy) term consequences.
436
Intestinal Roundworm Infestations

Commonly seen in a particular Conservative management involves
socioeconomic strata, roundworm hypertonic saline enemas to disrupt
infestation may cause acute the bolus of roundworms and they
intestinal obstruction. pass out into the colon relieving the
The mass of roundworms is obstruction.
A usually palpable on abdominal Surgical management is needed
examination. Tenderness of this in case of failure of conservative
mass is indicative of vascular management, tenderness on the
compromise of the involved bowel mass or evidence of peritonitis.
wall.
B
Figures 20.4.12A and B: Intestinal roundworm

infestations roundworms can be seen through
intestinal wall and being retrieved
Photo Courtesy: Manish Jain, Surat

Intussusception
• Severe abdominal colics with • Hydrostatic reduction in early

vomiting, bleeding per rectum, cases. This can be USG guided
abdominal lump (diagnostic). (preferable) or fluoroscopy
B
• Imaging: USG shows a guided
pseudokidney or target sign • Surgery for late cases: Reduction
• Barium enema if any doubt in and if there is gangrene—
diagnosis. resection and anastomosis.
A C
Figures 20.4.13A to C: (A) Red currant jelly

stools-typical blood in feces; (B) USG finding;
(C) Barium enema
Jejuno-ileal Atresia
• Bilious vomiting • Correction of metabolic
• Distention and fluid levels imbalance
dependent on level of obstruction • Surgery
more distal the obstruction, more • Prognosis good unless
the fluid levels and more the complicated or apple-peel atresia.
distention
• Pale meconium may be passed.
Figure 20.4.14: Jejuno-ileal atresia, more distal

the obstruction—more fluid levels 437
Low ARM—Male
• Diagnosis—clinical. External Low anomalies: Primary
fistula in midline. reconstruction (anoplasty)
• Important to confirm level of
ano-rectal atresia.
• Imaging studies—invertogram,
etc. most useful after 24 hours.
• Must rule out anomalies in
urinary tract and spine.
Figure 20.4.15: Ano-rectal malformations

(ARM): Low anomaly in male—meconium on
scrotal raphe (external fistula)
Malrotation
• Acute attack of bilious vomiting • Rapid metabolic correction

with scaphoid abdomen. Rapid with early surgery important to
deterioration in case of vascular prevent midgut gangrene.
compromise. There may be blood • Absolute surgical emergency,
stained vomitus or meconium. should be operated within first
• With onset of volvulus child may few hours.
become pale and hypovolemic.
A B • Diagnosis: Barium study shows
Figures 20.4.16A and B: Intestinal malrotation duodenal obstruction, DJ flexure
with midgut volvulus (Plain X-ray shows the on right side of spine.
double bubble but with distal gas) line diagram
• D/D in a newborn: Duodenal
shows the bowel alignment in malrotation
Photo Courtesy: Ketan Parikh atresia - volvulus may show some
distal gas pattern.
Meckel’s Diverticulum
• Profuse hematochezia, without • In case of severe blood loss—
pain—Meckel’s scan may be blood transfusion may be
positive. required.
• Diverticulitis presents with pain, • Surgical excision is the treatment
mimics appendicitis. of choice and this can be done
• Intestinal obstruction. laparoscopically.
• Umbilical discharge.
• Imaging not successful in all cases
• Meckel’s scan may show ectopic
gastric mucosa
• Diagnostic lap: Only diagnostic
modality.
Figure 20.4.17: Meckel’s diverticulum (Meckel’s
438 radio-isotope scan: Hot spot near umbilicus.
Meconium Peritonitis
• Abdominal distention, • Exploratory laparotomy with
with intestinal obstruction, surgery for the primary cause of
characteristic facies, abdominal meconium peritonitis.
wall staining.
A
• X-ray: Central bowel with
surrounding fluid.
• Speckled calcification may be
seen.
B C
Figures 20.4.18A to C: Meconium peritonitis

clinical and radiological features as described
Necrotizing Enterocolitis

Mostly occurs in preterm babies but Surgical indications. Persistent
seen in full terms also. fixed loop, tender loop. Evidence
Clinical features: Initial— of perforation/gangrene. Portal
Physiological deterioration—sick venous gas pneumoperitoneum.
looking, distention, increased
pre-feed residuals
• Later: Vomiting—maybe bilious;
abdominal distention; bleeding
per rectum
• Diagnosis: Clinical as above
• X-ray: Pneumatosis intestinalis
(intramural air), fixed loop or
Figure 20.4.19: Necrotizing enterocolitis pneumoperitoneum or portal
(Intramural air) venous gas.
Peritonitis/Intestinal Obstruction
• Clinically: Abdominal pain, • Conservative treatment may be
distention, bilious vomiting, tried in early obstruction without
constipation. peritonitis if pain is less.
• X-ray: Fluid levels seen in both • Surgical indications: Severe pain,
obstruction and peritonitis (Fig. persistent symptoms, effect of
A B 20.4.20A). peritonitis.
Figures 20.4.20A and B: Intestinal obstruction • In case of peritonitis – ground glass
Peritonitis: (A) Intestinal obstruction; (B) appearance with fluid between
Peritonitis (thickened bowel wall and ground
bowel loops (Fig. 20.4.20B).
glass appearance below)
Photo Courtesy: Ketan Parikh • Perforated appendicitis is the
most common cause of peritonitis
in children also.
439
Rectal Polyp
• Usually between the ages of 3 to 8 • Sigmoidoscopy with polypectomy.

years.
• The most common cause of
painless fresh bleed per rectum in
this age group.
• Symptoms: Fresh bleeding, trickle
with or after stools. Polyp may
prolapse intermittently.
Figure 20.4.21: Rectal polyp

Rectovestibular Fistula (RVF)

• Diagnosis is based on clinical • Single stage repair usually

examination—absent anal preferred. Outcome—good.
opening and fistula seen within • If the fistula is narrow and child is
fourchette behind vaginal not decompressing well—staged
opening. repair may be required.
• Intermediate anomaly in female • Only cut-back—not
but generally wide external fistula recommended.
so usually no emergency.
Figure 20.4.22: Rectovestibular fistula

20.5 PEDIATRIC UROLOGICAL CONDITIONS

Antenatally Diagnosed Hydronephrosis —Bilateral (PUV)
• Most common cause of bilateral • Regular antenatal follow-up.
HDN is posterior urethral valves • Bad prognostic signs—
in male babies. oligohydramnios, echogenic
• Classical antenatal sonography kidneys with thin cortex.
A B
findings are bilateral • Oligohydramnios after 32
hydroureteronephrosis (Fig. weeks—early delivery.
20.5.1A)distended bladder and
• Postnatal catheterization is done
posterior urethra (Key hole sign)
on day 1 and MCU to confirm the
(Fig. 20.5.1B).
diagnosis soon thereafter MCU
C
picture of PUV (Fig. 20.5.1C).
Figures 20.5.1A to C: Antenatal hydronephrosis—
bilateral
440 Photo Courtesy: Arbinder Kumar Singal
Antenatally Diagnosed Hydronephrosis (ADH)—Unilateral

• ADH is very common disorder • Antenatal counseling by a
occurring in up to 1% of all pediatric urologist/surgeon is
pregnancies. very important.
• For unilateral hydronephrosis • In unilateral hydronephrosis, the
the most common cause is pelvi- prognosis is very good and a post-
ureteric junction obstruction natal USG should be done at 5 to
followed by vesicoureteric reflux. 7 days of age.
• Up to 70% of these may be mild • Regular follow-up to ascertain
and resolve before birth or within resolution is a must in first year of
first few months after birth. life.
Figure 20.5.2: Antenatal hydronephrosis—
Unilateral left kidney shows dilated pelvis and
calyces while right kidney is normal
Calculi
Urinary calculi have become more • Renal calculi-lithotripsy

common in childhood. (ESWL) or percutaneous
Symptoms: nephrolithotomy.
• Pain—lumbar region due to renal • Ureteric calculi—less than
or a pelvic calculus (Figs 20.5.3A 6 mm—wait and watch,
and B). alpha blockers; more than 6
A
• Colicky pain with radiation from mm—ureterorenoscopy.
loin to groin- ureteric calculus. • Bladder calculi: Percutaneous
• Pain suprapubic with dysuria— laser cystolithotripsy or open
bladder calculus. surgery.
• Hematuria. • Metabolic work-up is a must for
all children.
• Lower urinary symptoms such as
B frequency, dysuria, etc.
Figures 20.5.3A and B: Urolithiasis (Urinary Diagnosis:
calculi) • Plain X-ray KUB (Fig. 20.5.3A)
Photo Courtesy: Arbinder Kumar Singal Non-contrast thin cut CT, USG
KUB (Fig. 20.5.3B).
Disorder of Sex Development (DSD)

Suspect DSD when there is: Diagnosis:
• Ambiguous genitalia (Fig 20.5.4A) • Karyotype.
• Clitoromegaly • Serum 17-OH progesterone levels
• Hypospadias with undescended are high in CAH.
A B testis (Fig. 20.5.4B) • USG to see for internal genitalia.
Figures 20.5.4A and B: Disorder of sex • Severe hypospadias
development (DSD) or intersex. (A) Child with Management:
CAH and virilization, no gonads palpable; (B) • Bilateral nonpalpable • Gender assignment surgery based
Child with mixed gonadal dysgenesis—severe undescended testis.
hypospadias and undescended testis
on size of phallus, sex of rearing,
Most common cause of DSD is internal genitalia and fertility
congenital adrenal hyperplasia in potential.
which karyotype is 46XX but due to
excessive androgens—virilization
• Counseling and team 441
management very important.
occurs.
Epispadias
• Urethral meatus is on the dorsal • Urethroplasty is recommended
aspect of penis and there may before one year of age.
be associated dorsal curvature- • Children with incontinence may
dorsal chordee. require more extensive surgical
• As compared to hypospadias— procedure including bladder neck
incidence is 100 times less. reconstruction.
• May be associated with
incontinence in severe varieties.
Figure 20.5.5: Epispadias
Exstrophy
• Defect in the lower anterior • Diagnosis is self-evident.
abdomen wall and bladder so that • Management: Closure of bladder
bladder lies open and exposed. in one stage or staged procedure

• Continuous urine leak and should be started in first few days
excoriation occurs. of life itself.
A • Diagnosis can be made • Multiple procedures may be
antenatally as no bladder can be required to achieve continence.
seen on scans.
Figures 20.5.6A and B: Exstrophy

Hypospadias
• Common congenital anomaly- • Corrective surgery is best done
urethral meatus is on the between 6 months to 1 year of
underside of penis. age.
• More proximal the meatus, more • Most of the cases can be managed
severe the hypospadias. with single stage urethroplasty
A
• Most of the cases have associated except severe varieties or the ones
ventral curvature of penis called with severe chordee.
chordee. • Surgical outcomes are excellent
• Diagnosis can be easily made at from functional and cosmetic
birth as the defect is easily visible. view with newer techniques.
Isolated hypospadias does not require
B any diagnostic tests except children
Figures 20.5.7A and B: Hypospadias with associated genital ambiguity,
442 Photo Courtesy: Arbinder Kumar Singal undescended testis or micropenis.
Neuropathic Bladder
Symptoms: • Diagnosis: Clinical history, USG,
• Incontinence, straining, wetting, MCU and urodynamics.
recurrent urinary infections. • MRI for nervous system defects.
• Usually associated problems • Management: Individualized—
with defecation also such as may include – Anticholinergics,
incontinence or soiling. Clean intermittent catherteriza
• Seen in spina bifida, tion, prophylactic antibiotics and
meningomyelocele, sacral bladder augmentation surgeries.
agenesis, cerebral palsy, etc.
• Always examine spine, lower
Figure 20.5.8: Child with neuropathic bladder
limbs with any child with urinary
postsurgery for spina bifida. Always look at spine
when a child comes with urinary problems symptoms, constipation to avoid
Photo Courtesy: Arbinder Kumar Singal missing.
Pelvi-ureteric Junction Obstruction

• Most of these cases of PUJ Diagnosis:
obstruction are diagnosed • Clinical exam of a renal lump.
antenatally now, less than 10%
• Ultrasound showing distended
present later.
pelvis with thinning of cortex
Common postnatal symptoms are: (Fig. 20.5.9B).
A
• Flank lump (Fig. 20.5.9A) • Diuretic renal scan (DTPA/EC or
• Pain MAG3) showing obstruction.
• UTI Treatment: Pyeloplasty which can
• Hematuria after minor trauma. be done laparoscopically in current
era.
B
Figures 20.5.9A and B: Pelvi-ureteric junction

obstruction
Testicular Torsion
Symptoms: • Emergency scrotal exploration.
• Sudden pain and swelling of • If torsion is confirmed, detorsion
scrotum (Fig. 20.5.10A). to restore blood supply is the
• Age first few years or prepubertal. first step. Chances of testicular
salvage decrease drastically after
• Affected testis rides higher and is
4 hours of onset of symptoms and
A scrotum is red and tender.
torsion is thus an absolute surgical
• Absence of cremasteric reflex is emergency. If there is no return of
diagnostic. blood supply, orchiectomy is done.
• Diagnosis: Mainly clinical but if • Twenty percent of the contralateral
available in emergency—USG testis have anatomic predisposition
Doppler or nuclear scan for blood to torsion so contralateral
B flow may help. orchiopexy is done at the same
Figures 20.5.10A and B: Testicular torsion • Any doubt: Surgical exploration time.
Photo Courtesy: Arbinder Kumar Singal should be done (Fig. 20.5.10B). 443
Ureterocele
Definition: A ureterocele is a cystic • Observation for small incidentally
out-pouching of the distal ureter discovered ureteroceles with
into the urinary bladder. good renal function and no
Symptoms: obstruction.
• Bladder outlet obstruction. • Symptomatic or obstructed
ureteroceles—symptomatic –
• Urinary infections.
cystoscopy and deroofing.
Diagnosis:
• In some cases open bladder
• Ultrasound is the diagnostic surgery or reimplantation of
Figure 20.5.11: USG of a child with ureterocele. investigation of choice. ureters may be required.
Kidney shows a duplex system and USG of
bladder shows a ureterocele at ureterovesical
• MCU is done to check for
junction anatomy and associated reflux.
Photo Courtesy: Arbinder Kumar Singal • Renal scan is important to asses
function of associated renal moiety.
Vesicoureteric Reflux (VUR)

Clinical features: • Prevention of UTI, constipation,

• Antenatal hydronephrosis, dysfunctional voiding, phimosis,
urinary infections, dysfunctional etc.
voiding • Surgery is required only if there
• Culture positive UTI in first year of life are breakthrough UTI’s.
mandates a MCU to rule out reflux.
Diagnosis:
• Urine culture showing >105
bacteria per ml.
• USG may show mild
hydroureteronephrosis.
• Micturating cystourethrogram
(MCU) is the diagnostic test.
Figure 20.5.12: Vesicoureteric reflux (VUR)
20.6 SOLID TUMORS OF CHILDHOOD

Neuroblastoma
Symptoms: • Surgery if resectable.
• Lump abdomen, may cross • Neoadjuvant chemotherapy
midline, lump is form and followed by surgery if
irregular. unresectable and then depending
A B
• Others: Weight loss, Panda eyes, on residue postoperative
Figures 20.6.1A and B: (A) Shows
metastatic nodules, diarrhea, (Fig. chemotherapy.
subconjunctival hemorrhages—so called Panda
eyes; (B) CECT shows large heterogenous mass 20.6.1A) opsoclonus myoclonus. • Stage 4S in newborns generally
on right side • Diagnosis and staging: USG/ does not need therapy.
CECT abdomen (Fig. 20.6.1B)
444 urinary catecholamines, MIBG
scan, bone marrow smear/biopsy.
Sacrococcygeal Teratoma
Mass arising from the tip of coccyx— • Early excision with perineal
almost always seen at birth-pushes reconstruction prevents
anus anteriorly (Fig. 20.6.2). malignant transformation.
• Prognosis good.
Figure 20.6.2: Sacrococcygeal teratoma

Photo Courtesy: Manish Jain
Wilms’ Tumor

Age group: 1 to 5 years • Stage 1 and 2 resectable—
Symptoms: followed by chemotherapy.
• Most common—lump abdomen • Stage 3 and 4—Neoadjuvant
(Fig. 20.6.3A) chemotherapy followed by
surgery and then chemotherapy
• Failure to thrive
and radiotherapy.
• Hematuria in 10%.
A
Diagnosis:
• USG/ CECT scan (Fig. 20.6.3B)
• Metstatic work-up—lungs- CECT
scan/bones—bone scan.
Figures 20.6.3A and B: (A) Shows a left renal

lump; (B) CECT abdomen shows a well defined
large heterogeneous left renal mass
445
Section 21
Orthopedics
Section Editor
Photo Courtesy

21.3 Emergencies
21.4 Syndromes
Section Outline
21.1 COMMON CONDITIONS 449 ♦ Fibular Hemimelia 454
♦ Chronic Osteomyelitis 449 ♦ Idiopathic Scoliosis 454
♦ Congenital Talipes Equinovarus (Clubfoot) 449 ♦ Muscular Torticollis 455
♦ Developmental Dysplasia of Hip (DDH) 449 ♦ Osteogenesis Imperfecta 455
♦ Early Perthes’ Disease 450 ♦ Proximal Femoral Focal Deficiency 455
♦ Early Tuberculosis of the Spine 450
♦ Sarcoma of Bone 456
♦ Erb’s Palsy 451
♦ Solitary Bone Cyst 456
♦ Intoeing 451
♦ Spondylolisthesis 456
♦ Mobile Flat Feet 451 21.3 EMERGENCIES 457
♦ Physiological Bow Legs 452 ♦ Acute Osteomyelitis 457
♦ Physiological Genu Valgum 452 ♦ Acute Septic Arthritis 457
♦ Supracondylar Fracture Humerus 457
♦ Slipped Capital Femoral Epiphysis (SCFE) 458
♦ Blount’s Disease (Tibia Vara) 452
♦ Congenital Dislocation of the Knee 453 21.4 SYNDROMES 458
♦ Congenital Pseudarthrosis of Tibia 453 ♦ Arthrogryposis Multiplex Congenital 458
♦ Congenital Scoliosis with Skin Marker 453 ♦ Enchondromatosis 458
♦ Congenital Vertical Talus 454 ♦ Hereditary Multiple Exostosis 459
Chronic Osteomyelitis
Patient may present with sinuses, Treatment consists of removal of the
which are adherent to the bone. infected tissues and the sequestrum
Granulation tissue may be (sequestrectomy). The dead space
protruding from the sinus. Bone is created by surgery is filled with
thickened. X-ray reveals sequestrum overlying soft tissues. Appropriate
surrounded by involucrum. A part antibiotics are administered during
A B of the long bone may be absent if surgery.
the periosteum has been destroyed
Figures 21.1.1A and B: Chronic osteomyelitis
Photo Courtesy: K Sriram, Chennai
by infection.
Congenital Talipes Equinovarus (Clubfoot)

Clubfoot is probably the most The Ponseti method is the most
common (1–2 in 1000 live births) common mode of treatment. It
congenital orthopedic condition consists of serial weekly stretching
requiring treatment. Idiopathic casts from the 5 to 7th day of
clubfoot represents a primary but life followed by a tendo achilles

A
local dysplasia of all tissues of the tenotomy after 5 to 6 casts. The child
affected extremity from the knee has to use a foot abduction brace for
down. Syndromic club feet are 4 months following the correction
associated with various conditions 24 hours a day. Night bracing is then
like arthrogryposis, spina bifida, continued till 3 years of age. The
Streeter’s dysplasia, etc. Diagnosis resistant and syndromic feet may
is obvious with the heel being in require a combination of soft tissue
B equinus and varus and the forefoot releases, osteotomies and external
Figures 21.1.2A and B: Congenital talipes equinovarus being supinated. The hips and spine fixators to correct the deformity. The
(Clubfoot) should always be examined. syndromic feet tend to recur more
Photo Courtesy: Vijay Sriram, Chennai often than the idiopathic feet.
Developmental Dysplasia of Hip (DDH)
Covers a wide range of abnormalities In the neonate, ultrasonography
ranging from mild defects of is useful to confirm the clinical
acetabulum to subluxation, diagnosis. In older children
dislocation and teratologic dislocation radiographs will confirm the
of the hip.The common etiology is diagnosis.
excessive laxity of the hip capsule, Treatment:
with failure to maintain the femoral Neonate: Pavlik harness for 6 weeks.
head within the acetabulum. The Reduction is monitored with regular
A
syndrome in the newborn consists ultrasound scans.
of instability of the hip, such that 1 to 6 months: Pavlik harness
the femoral head can be displaced or a closed reduction and spica
partially (subluxated) or fully immobilization for up to 8 weeks.
(dislocated) from the acetabulum 6 to 18 months: Closed or open
by an examiner. The hip may also reduction and spica casting for 4
rest in a dislocated position and be months.
reducible on examination. Over 18 to 36: Open reduction with
time, the femoral head becomes fully femoral shortening, and selective
B dislocated and cannot be reduced by acetabular osteotomy.
Figures 21.1.3A and B: Developmental changing the position of the hip. 36 months-6 years: Open reduction,
Dysplasia of Hip (DDH) In a walking child, an obvious limp femoral shortening and acetabular
Photo Courtesy: Vijay Sriram, Chennai will be present and in bilateral cases osteotomy. 449
a waddling gait will be present.
Associated conditions are torticollis
(20%), and metatarsus adductus.
Early Perthes’ Disease

Legg-Calvé-Perthes disease is Initial management should focus
a condition in which there is a on pain relief, with a reduction
temporary avascular necrosis of in activities and the use of anti-
the capital epiphysis (head) of the inflammatory medications, and
femur. short periods of bed rest for major
The disease is of variable severity, episodes of pain or loss of joint
and bilateral involvement occurs in motion. In children over 8 years
approximately 10 to 12% of patients. of age in the early stages surgical
The disorder is most prevalent in containment of the femoral head
children 4 to 12 years of age. It is should be done. This is achieved
more common in boys than in girls either by femoral varus osteotomy
A by a ratio of 4 or 5 to 1. The etiology or an acetabular procedure.
of perthe’s disease is unknown, but
the disorder may be due to a silent
coagulopathy in some individuals.
The symptoms are a limp that is
exacerbated by activity and relieved
with rest; pain, which may be

located in the groin or anterior hip
region. The signs are an abductor
limp and restricted abduction
and internal rotation of the hip.
Radiological features in the early
stage are the femoral head becomes
B uniformly dense and reduces in
height. A subchondral fracture may
Figures 21.1.4: (A) Early stage of AVN right hip;
(B) Stage of fragmentation be present. It then goes into the
Photo Courtesy: Vijay Sriram, Chennai fragmentation stage where multiple
lucencies are seen. Differential
diagnosis includes sickle cell
anemia, hypothyroidism, and
skeletal dysplasias.
Early Tuberculosis of the Spine

Painful spinal deformity should Administration of antituberculous
raise the suspicion of organic therapy according to the protocol
disease of the spine. (Infection for spinal tuberculosis leads to
or tumor). The most common quiescence of the disease. Rarely,
infection is tuberculosis. X-ray in progressive destruction or the
the early stages is normal. MRI occurrence of neurological deficit
reveals destruction of the spine may require surgery.
with paravertebral soft tissue mass.
CT guided biopsy is performed to
A B confirm the diagnosis.
Figures 21.1.5A and B: Early tuberculosis of
450 the spine
Erb’s Palsy
This may occur due to shoulde Recovery depends on the severity.
dystocia during vaginal delivery. Spontaneous recovery occurs in
The babies are often large in 90% of patients. Treatment starts
proportion to pelvic outlet. It also in the neonatal period. Passive
occurs during breech delivery and movements of all joints are
even after cesarian section. Injury to performed to prevent contractures.
C5 and C6 roots occur at Erb’s point Nonrecovery of biceps function
in the brachial plexus. There is loss at 4 months of age indicates
of abduction and external rotation poor prognosis. Nerve grafting is
A B of shoulder, loss of elbow flexion necessary without much delay.
Figures 21.1.6A and B: Erb’s Palsy and a wristdrop. They need release of contractures
Photo Courtesy: K Sriram, Chennai Partial recovery results in and tendon transfer.
deformities such as internal
rotation contractures and posterior
dislocation of the shoulder.
Intoeing

Excessive femoral torsion is the Attempts to correct the way the
most common cause of intoeing child sits or walk is impossible.
in children. It is often familial, Braces are ineffective.
common in girls and symmetrical. Observational management is the
Children present between 4 to best. About 1% fails to remodel.
6 years of age. Child sits in W This may require osteotomy in later
position. Internal rotation of hips in childhood.
prone position is 60 to 70 degrees.
A B The condition resolves by 10 years
Figures 21.1.7A and B: Intoeing of age.
Mobile Flat Feet

One of the most common Hypermobile flatfoot does not require
“deformities” evaluated by pediatric treatment. If an Achilles tendon
orthopedists. In flexible flat feet contracture is present, it should be
there is a decrease in the height stretched vigorously because of the
of the medial longitudinal arch of possibility that symptoms might arise
the foot with a midfoot sag. It can later. Nonoperative management
be associated with a tight tendo- of painful flatfeet in adolescents
achilles tendon. Restoration of is generally successful and entails
A the arch occurs in the nonweight shoe modifications (running shoes
bearing position and when the suffice for this purpose), orthoses and
child stands on the toes. Rigid stretching and strengthening exercises.
flat feet are seen in vertical talus, Surgical correction is a last resort for
tarsal coalitions, neurological this condition, and includes lateral
and myopathic conditions. In column lengthening or a calcaneal
majority of the cases apart from the medial sliding osteotomy, often
deformity there are no symptoms. combined with medial soft tissue
B Occasionally these children can imbrication, to provide symptomatic
Figures 21.1.8A and B: Mobile flat feet
complain of pain. relief by realigning the subluxated 451
Photo Courtesy: Vijay Sriram, Chennai talo naviculocuneiform complex.
Physiological Bow Legs

They are most obvious in the 2nd The condition corrects
year and disappear by the 3rd year. spontaneously. Braces are
The deformity is symmetrical and unnecessary. The progress is
the children are of normal stature. monitored by measuring the
It involves both femur and tibia. intercondylar distance at intervals
Femoral and tibial torsion may be of 6 months. The genu varum may
associated with it. Lateral thrust change to genu valgum at 3 years
A B
on walking may be present. X-ray and then settle to normal valgus
reveals medial beaking of tibia. by 7 years of age. The parents need
If the lower two-thirds of tibia is counseling regarding the natural
covered with a cardboard, the knee history of genu varum.
will appear to be in valgus (Hide
C
test).
Figures 21.1.9A to C: Physiological bow legs
Physiological Genu Valgum

The deformity is noticed between 3 The progress is monitored by
to 5 years of age. Gradual correction measuring the intermalleolar
to mild valgus occurs by 9 years of distance at 6 monthly intervals.
age in the vast majority. Patients are Rarely, the condition persists. If the
of normal stature. Family history of intermalleolar distance exceeds
flatfeet may be present. Metabolic 15 cm, surgery is performed.
workup is needed if rickets is (hemiepiphyseal arrest by stapling
Figure 21.1.10: Physiological genu valgum
Photo Courtesy: K Sriram, Chennai suspected. Unilateral genu valgum or guided growth plate). The
occurs in pathological conditions. procedure is a successful one.

Blount’s Disease (Tibia Vara)
Tibia vara is defined as growth In the early stages, in children
retardation at the medial aspect of the below 3 years bracing is useful. If
proximal tibial epiphysis and physis. bracing fails, corrective osteotomy
It usually results in progressive or at in children below 3 years in the
least persistent bowlegs. The children early stages can cause resolution of
are usually obese and bowlegs persist the disease.
A beyond 3 years of age. Very often there In later stages mechanical axis
will be a lateral thrust of the involved correction has to be combined
knee in the stance phase. with excision of bony bridges and
Radiographic findings are a epiphyseal osteotomies.
prominent metaphyseal beak with Recurrence is more common when
lucencies, lateral subluxation of the treatment is begun in the later
tibia, widened and irregular physeal stages of the disease.
B line and a medially sloped and
Figures 21.2.1A and B: (A) Bilateral Blount’s in
irregular epiphysis. In the later stages
there will be bony physeal bars and
452 a 3 years old; (B) 1 year following surgery
Photo Courtesy: Vijay Sriram, Chennai epiphyseal damage.
Congenital Dislocation of the Knee

This anomaly can occur in breech Closed reduction of the dislocation
presentation. The tibia is dislocated is usually successful in early
anterolaterally. The femoral infancy. This is achieved by
condyles are felt in the popliteal stretching and casting the knee in
A
fossa. It is often associated with flexion. Quadriceps lengthening is
club feet and dysplasia of hips. performed in cases of irreducible
The condition can be a part of dislocations.
arthrogryposis, Larsen syndrome,
etc.
Figures 21.2.2A and B: Congenital dislocation

of the knee
Congenital Pseudarthrosis of Tibia

This disease manifests with It is difficult to obtain union of
anterolateral bowing of tibia. the pathological fracture. Surgical
Neurofibromatosis is present in treatment options are: (1) Intra
50% of patients. It is almost always medullary rodding and bone
unilateral. Fractures occur within grafting (2) Vascularized fibula
the first 2 years of life. transfer (3) Syme amputation and
prosthesis. If surgical treatment
results in repeated failures and
gross shortening, Syme amputation
and prosthetic fitting helps in
A B
early rehabilitation of the child.
Figures 21.2.3A and B: Congenital
pseudarthrosis of tibia
Further, psychological damage due
Photo Courtesy: K Sriram, Chennai to repeated surgery to the child is
reduced.
Congenital Scoliosis with Skin Marker

This develops due to malformation The goal is to obtain a balanced
of the vertebrae. (Failure of spine at the end of growth. In young
formation, failure of segmentation children, expansion of the chest and
or a combination of both). The spine lung development is an important
develops at the same time as major consideration. Progressive
organs. Genitourinary anomalies, deformities are treated by surgery.
cardiac anomalies and spinal cord The procedure varies according
abnormalities may be associated to the age of the child, type and
with it. X-ray shows the type and severity of the deformity. Surgery
A B severity of the abnormality. Renal should be performed early, as soon
Figures 21.2.4A and B: Congenital scoliosis
ultrasound, echocardiogram and as progression is documented.
with skin marker MRI of the spine are performed Correction of large deformities is
Photo Courtesy: K Sriram, Chennai during evaluation of the patient. complicated.
Hair patch in the back indicates the
453
presence of intraspinal anomaly.
Congenital Vertical Talus

A rigid flat foot where the foot The treatment is started in early
is boat shaped (Rocker bottom infancy. The foot is stretched
foot). The talus is felt on the into equino varus and casted at
plantar aspect. The medial border weekly intervals for 6 to 8 weeks.
A is convex. It can be unilateral or Open reduction of talonavicular
bilateral. Normal children can be joint is performed. In syndromic
affected with it or it can be a part children, the deformity is prone to
of arthrogryposis, spina bifida recurrence.
or chromosomal anomaly. The
navicular is dislocated on the
dorsolateral aspect of the talus.
B X-ray shows the talus in vertical
Figures 21.2.5A and B: Congenital vertical position and it does not change in
talus plantar flexion of the foot.
Fibular Hemimelia
Most common congenital absence Extreme shortening of the limb

of long bone. It can be partial or associated with a bad deformity of
complete absence of fibula. The the foot is treated by early Syme’s
lateral rays of the foot can be absent. amputation and prosthesis.Early
The foot may or may not have prosthetic fitting results in good
deformity. Congenital anomalies function. Moderate shortening
of the femur or the hip may be of the limb is treated by limb
associated with it. The knee joint lengthening.
may have laxity of the ligaments.
A B C The shortening of the leg is variable.
Figures 21.2.6A to C: Fibular hemimelia
Idiopathic Scoliosis
It is the commonest type of scoliosis This depends on the magnitude of
after 10 years of age. Affected girls the curve and the skeletal maturity
versus boys ratio is 10:1. Right of the patient. Immature children
thoracic curve is the commonest with flexible curves between 25 to
deformity. The patients are brought 40 degrees are treated in braces.
for asymmetry of shoulders, Braces prevent progression of
rib hump or uneven waist. The deformity. Surgery is performed
deformity progresses during growth. in patients with curves larger than
50 degrees. The goal of surgery is
A B
to obtain spinal balance (Level
Figures 21.2.7A and B: Idiopathic scoliosis shoulders, level pelvis and normal
sagittal profile).Spinal fusion of
the structural curve is performed
with instrumentation. The surgical
approach to the spinal deformity
correction can be posterior, anterior
454
or combined. This decision is
individualized.
Muscular Torticollis
This occurs due to the contracture of Surgery is essential to correct
one or both heads of sternomastoid. the deformity. The contracted
The condition often manifests in muscle is released at both ends
childhood with tilt of the head. (Bipolar release). The correction
The sternomastoid feels tight and is maintained by postoperative
the neck movements are limited. physiotherapy for 3 months.
Asymmetry of the face may develop
and increases with growth.
A B
Figures 21.2.8A and B: Muscular torticollis

Osteogenesis Imperfecta
It is a genetic disorder resulting in Bisphosphonates have been used
fragility of the entire skeleton. It for some years. They decrease
varies in severity from an infant with osteoclastic resorption and increase

multiple fractures to an adolescent bone density. Thus, fracture rate is
with a few fractures. The variation in reduced.
clinical features is due to mutation Patients receiving pamidronate
of the gene. Bones, ligaments, (bisphosphonate) will demonstrate
dentine and the sclera show lines of increased bone density with
A changes due to the defect in type1 each administration.
collagen. Diagnosis is made from
Surgery is indicated in patients
clinical and radiological features.
with diaphyseal deformities and
Patients are short stature. The bones
those with multiple fractures.
are deformed. Ligaments are lax.
Multiple osteotomies are performed
Dentine may be translucent. Sclerae
B
and the bone is threaded on an
C may be blue.
Figures 21.2.9A to C: Osteogenesis imperfecta intramedullary rod.
Proximal Femoral Focal Deficiency

This is due to a developmental Children with gross shortening
failure of proximal femur and the benefit by extension prosthesis.
hip. It varies in severity from a Sometimes, severe deformity of the
short femur to complete absence foot will interfere with prosthetic
of the proximal femur and the fitting. Syme amputation and
acetabulum.The leg and foot on prosthesis are indicated in these
the affected side may or may not be patients. In patients with normal
normal. The shortening of the femur hip and knee joints, femoral
is variable. Often, the foot on the lenghthening is feasible.
involved side is opposite the knee
on the other side.
A B
Figures 21.2.10A and B: Proximal femoral focal

deficiency 455
Sarcoma of Bone
X-ray reveals destruction of Treatment consists of neoadjuvant
diaphysis along with new bone chemotherapy (cycles of
formation. MRI shows a large chemotherapy given before
extra osseous component. surgery), followed by radical
Biopsy: Round cell sarcoma. excision of the tumor. Limb
Besides histopathology, reconstruction follows excision
immunohistochemistry are of the tumor. Postoperative
performed. chemotherapy is continued
The X-ray can be mistaken for according to the individual case
A B
chronic osteomyelitis. (Adjuvant chemotherapy).
Figures 21.2.11A and B: Sarcoma of bone
Solitary Bone Cyst

This is an expansile, bony, Symptomatic cysts are treated by
radioluscent lesion in the aspiration of the fluid and injection
metaphysis.The cortex is thinned of methylprednisolone. Cyst in

out. Lesion extends up to the growth the femur is treated by curettage
plate. It is common in the humerus and bone grafting. Recurrence and
and femur. The condition is often arrest of growth plate are common
discovered after a pathological complications.
fracture.
Figure 21.2.12: Solitary bone cyst

Spondylolisthesis
Spondylolisthesis is defined as the The mainstays of treatment— rest,
forward slippage of one vertebra on its avoidance of inciting activities,
adjacent caudal segment. In children use of anti-inflammatory pain
the common types are the dysplastic medication, and application of
(congenital) and the isthmic type. a brace in extreme situations—
Both types can occur at any age in usually allow an acute symptomatic
children but dysplastic tends to become spondylolysis to resolve. When
evident earlier. Back pain, sciatic pain, conservative treatment fails then
altered posture and claudication are surgery is necessary.
A B the common symptoms. Rarely there Posterolateral fusion is advocated
can be neurological deficits including when there are no significant
bladder involvement. neurological symptoms.
Hamstring tightness, scoliosis, Decompression and fusion is
spasm and restriction of flexion necessary when there are significant
are the common signs. A single neurological symptoms.
lateral radiograph is diagnostic of
a listhesis. Oblique views may be
C necessary to detect the pars defect.
Figures 21.2.13A to C: L5-S1 listhesis MRI is useful when there are
456 Photo Courtesy: Vijay Sriram, Chennai neurological deficits.
21.3 EMERGENCIES
Acute Osteomyelitis
It produces systemic signs If diagnosed early, intravenous
of infection, local signs of antibiotics may control the
inflammation and pseudoparalysis infection. Patients presenting with
of the affected limb. In the neonates, abscess or those not responding
multifocal lesions can occur. CRP to antibiotics need drainage.
and ESR are raised. X-ray shows soft The bones remodel well, but the
tissue swelling. Ultrasound and MRI adjacent growth plates may be
A B
help to localize the abscess. destroyed.
Figures 21.3.1A and B: Acute Osteomyelitis
Acute Septic Arthritis

Acute septic arthritis is an Leukocytosis, raised ESR and
emergency. Hematogenous CRP are the laboratory findings.
seeding of the synovium during Ultrasound or MRI can be done to

transient bacteremia is the most confirm the diagnosis.
common cause of septic arthritis Treatment is an emergency.
in children. In majority of cases a Immediate aspiration of the affected
A
single joint is affected with the hip joint followed by an arthrotomy of the
being most common. The most involved joint should be done. Early
common causative organism is decompression can save the joint.
Staphylococcus aureus. The clinical
Complications include systemic
features include fever, pain, refusal
sepsis, premature arthritis, physeal
to bear weight and most importantly
closure, growth disturbance,
pseudoparalysis.
B synovitis, arthrofibrosis, joint
Figures 21.3.2A and B: Septic arthritis of L hip stiffness, and persistent infection.
Photo Courtesy: Vijay Sriram, Chennai
Supracondylar Fracture Humerus

The peak age at which Undisplaced fractures can be
supracondylar fractures occur treated in a plaster cast. Displaced
is between 5 and 7 years. Fall on fractures are treated on an urgent
an outstretched hand is the most basis. This is because delay in
common mechanism of injury. treatment can cause significant
Associated median or radial nerve swelling of the elbow which could
A injuries can occur in displaced lead to difficulty in reduction of the
fractures. Brachial artery can be fracture and Volkmann’s ischemia.
injured too. Concomitant injuries of Closed or open reduction with
the wrist and shoulder should also ‘K’ wire fixation is the mode of
be looked for. X-rays are necessary treatment for displaced fracture.
to diagnose and to assess the
Cubitus varus is the most common
displacement of the fracture.
B complication of this fracture.
Figures 21.3.3A and B: (A) Displaced
supracondylar fracture humerus;
(B) Postoperative X-ray
457
Photo Courtesy: Vijay Sriram, Chennai
Slipped Capital Femoral Epiphysis (SCFE)

Slipped capital femoral epiphysis Stable slips should be pinned
(SCFE) is caused when the femoral in situ. Unstable slips can either
capital epiphysis displaces from pinned in situ, or can be reduced
its normal position relative to the with a safe surgical dislocation and
femoral neck. It is seen in adolescents. pinned. Prophylactic pinning of the
It can be acute, chronic or acute on contralateral normal hip is done in
A
chronic. Stable slips are those when endocrinopathies and renal failure.
the patient is able to bear weight but The complications associated
has pain and unstable ones are those are AVN, chondrolysis and early
where the patient cannot bear weight. osteoarthritis of the hip.
Obesity, hypothyroidism, growth
hormone deficiency and chronic
renal failure are associated with this
condition.
B Patients present with varying
Figures 21.3.4A and B: (A) SCFE L hip; degrees of pain and external
rotation of the affected hip. Some
(B) Pinning in situ

Photo Courtesy: Vijay Sriram, Chennai patients present with referred pain
behind the knee.
21.4 SYNDROMES
Arthrogryposis Multiplex Congenital
The condition is characterized by The goal of treatment is to bring
multiple congenital contractures. the limbs to functional position.
Muscles are replaced by fibrous Physiotherapy and bracing
tissue and fat. The condition is are needed in infancy and
sporadic. All four limbs are affected early childhood to reduce the
in 60% of patients. Lower limbs contractures. The deformities due
alone are involved in 25%. Medial to club feet, knee contractures and
rotation of shoulders, deformity hip dislocations are rigid. Surgery
A B
of elbows, flexion of wrists, hip is necessary to correct them. With
Figures 21.4.1A and B: Arthrogryposis dislocations, knee deformities and growth and physiotherapy, the
multiplex congenital
club feet are common deformities. condition progressively improves.
Enchondromatosis
Enchondroma is a benign cartilage Surgical treatment is indicated in
tumor in the metaphysic of long case of complications, such as,
bone. Enchondromatosis (Ollier’s pressure on a nerve or blood vessel,
disease) is defined by the presence pain during daily activities or the
of atleast three enchondromas. The appearance may be unsightly.
clinical picture is variable (number, Severe deformity of legs and
location and age of onset). Clinical forearms also need surgery.
presentation may be pathological
fracture or growth disturbance.
A small chance of malignant
458 Figure 21.4.2: Enchondromatosis transformation exists.
Hereditary Multiple Exostosis

Multiple bone tumors capped by The indications for excision of
cartilage occur in the skeleton. The exostosis are: pressure on a nerve
metaphysis of long bones are broad or blood vessel, pain during daily
and poorly remodelled. Sessile activities or the appearance may be
or pedunculated exostosis arise unsightly. Severe deformity of legs
from the cortices. It is inherited as and forearms also need surgery.
autosomal dominant disorder with
variable expression.
Figure 21.4.3: Hereditary multiple exostosis

459
Section 22
Pediatric Imaging
Section Editors
Nishigandha Burute, Bhavin Jankharia
Photo Courtesy
Bhavin Jankharia, Bijal Jankharia, Devang Desai,
Govind R Jankharia, Meher Ursekar
22.1 Abdomen
22.2 Brain
22.3 Chest
22.4 Congenital (Multiorgan)
22.5 Musculoskeletal
Section Outline
22.1 ABDOMEN 463 ♦ Lung Abscess 472
♦ Appendicitis 463 ♦ Lymphoma 473
♦ Appendicolith with Bowel Obstruction 463 ♦ Pulmonary Alveolar Microlithiasis 473
♦ Budd-Chiari Syndrome 463 ♦ Sequestration 473
♦ Choledochal Cyst 464 ♦ Tension Pneumothorax 474
♦ Congenital Hypertrophic Pyloric Stenosis 464 ♦ Total Anomalous Pulmonary Venous Return 474
♦ Hematocolpos 464 ♦ Vascular Ring 474
♦ Intestinal Obstruction 465
22.4 CONGENITAL (MULTIORGAN) 475
♦ Intussusception 465
♦ Branchial Cleft Cyst 475
♦ Meckel’s Diverticulitis 465
♦ Cystic Hygroma 475
♦ Ovarian Dermoids 466
♦ Myelomeningocele with Sacral Agenesis 475
♦ Pneumatosis Intestinalis 466
♦ Thyroglossal Cyst 476
♦ Pneumoperitoneum 466
22.5 MUSCULOSKELETAL 476
22.2 BRAIN 467
♦ Aneurysmal Bone Cyst 476
♦ Aqueductal Stenosis 467
♦ Coalition—Calcaneonavicular 476
♦ Craniopharyngioma 467
♦ Congenital Dislocation of Hip 477
♦ Dandy-Walker Syndrome 467
♦ Ewing’s Sarcoma 477
♦ Meningitis 468
♦ Fibrous Dysplasia 477
♦ Neurocysticercus Granuloma 468
♦ Hemophilia 478
♦ Perinatal Insult 468
♦ Langerhan’s Cell Histiocytosis 478
♦ Pilocytic Astrocytoma 469
♦ Mucopolysaccharidosis 478
♦ Pontine Glioma 469
♦ Nonossifying Fibroma 479
♦ Tuberculoma 469
♦ Osteogenesis Imperfecta 479
♦ Tuberous Sclerosis 470
♦ Osteogenic Sarcoma 479
22.3 CHEST 470 ♦ Osteoid Osteoma 480
♦ Arteriovenous Malformation 470 ♦ Osteomyelitis 480
♦ Bronchogenic Cyst 470 ♦ Osteopetrosis 480
♦ Bronchopulmonary Dysplasia (BPD) 471 ♦ Perthes’ Disease 481
♦ Congenital Cystic Adenomatoid Malformation ♦ Rickets 481
(CCAM) 471 ♦ Scurvy 481
♦ Congenital Diaphragmatic Hernia 471 ♦ Thalassemia 482
♦ Congenital Lobar Emphysema (CLE) 472 ♦ Tuberculosis Ankle 482
♦ Hyaline Membrane Disease 472 ♦ Tuberculous Dactylitis 482
22.1 ABDOMEN
Picture Note
Appendicitis
Longitudinal (Fig. 22.1.1A) and transverse (Fig. 22.1.1B)
ultrasound images show an enlarged, tubular,
noncompressible, nonperistaltic, blind-ending
structure (arrows) in the right iliac fossa in a child with
pain in the abdomen. Echogenic fat stranding is seen
surrounding this.
A B
Figures 22.1.1A and B: Appendicitis
Appendicolith with Bowel Obstruction

Fluid filled distended small bowel loops (white arrows)
are seen in this roentgenogram of the abdomen

acquired with the patient in the upright position. A
small radiopaque density; appendicolith (black arrow),
is seen overlying the right iliac wing.
Figure 22.1.2: Appendicolith with bowel obstruction
Budd-Chiari Syndrome
The intrahepatic IVC reveals smooth tapering with
narrowing of the lumen (arrow) in this maximum
intensity projection (MIP) MRI angiogram (Fig. 22.1.3A).
A few tortuous collateral channels are seen along the
lateral aspect of the liver (arrowhead). The portal vein
and its branches appear normal as seen in the portal
vein phase of the study (Fig. 22.1.3B).
A B
Figures 22.1.3A and B: Budd-Chiari syndrome

463
Picture Note
Choledochal Cyst
Coronal TRUE FISP MRI (Fig. 22.1.4A) reveals a large
cystic dilatation (arrow) of the common bile duct. Two
tiny calculi (arrowhead) are seen within the cyst. The
intrahepatic biliary radicals and the pancreatic duct
appear normal. MRCP (Fig. 22.1.4B) delineates the
cyst and the intrahepatic radicals and pancreatic duct
better.
A B
Figures 22.1.4A and B: Choledochal cyst
Congenital Hypertrophic Pyloric Stenosis

A distended gastric bubble (arrow) is seen on a plain

X-ray of the abdomen (Fig. 22.1.5A). Barium meal (Fig.
22.1.5B) reveals an elongated narrow pyloric canal
(arrow).
A B
Figures 22.1.5A and B: Congenital hypertrophic pyloric stenosis
Hematocolpos
Transabdominal ultrasound (Fig. 22.1.6A) reveals
a large distended vagina (V) with dense internal
echoes. The normal sized uterus is seen superior to it.
Transvaginal ultrasound (Fig. 22.1.6B) confirms the
presence of hematocolpos (V).
A B
464 Figures 22.1.6A and B: Hematocolpos

Picture Note
Intestinal Obstruction
Axial CT scan of the abdomen with oral contrast shows
fluid filled distended small bowel loops (arrows) in a
child with intestinal obstruction.
Figure 22.1.7: Intestinal obstruction

Intussusception
Transverse ultrasound (Fig. 22.1.8A) shows the typical
‘target sign’ (arrows) caused by bowel invaginating
within bowel. Longitudinal ultrasound (Fig. 22.1.8B)
shows a layered appearance of the outer loop, the
intussuscepiens (long arrows) and the inner loop, the
intussusceptum (short arrows).
A B
Figures 22.1.8A and B: Intussusception
Meckel’s Diverticulitis
Axial (Fig. 22.1.9A) and sagittal (Fig. 22.1.9B) contrast-
enhanced CT scans reveal an enhancing, distended,
tubular, blind-ending structure (arrow) originating
from the distal ileum in a child with acute abdominal
pain. Surrounding mesenteric fat stranding is seen.
A B
Figures 22.1.9A and B: Meckel’s diverticulitis 465

Picture Note
Ovarian Dermoids
Well-defined round mass lesions are seen on these
ultrasound images involving both ovaries. The lesion
in the right ovary (Fig. 22.1.10A) contains multiple
linear echogenic interfaces (arrows). The lesion in the
left adnexa (Fig. 22.1.10B) reveals a fluid level (arrow)
with echogenic contents and posterior acoustic
enhancement (arrowhead).
A B
Figures 22.1.10A and B: Ovarian dermoids
Pneumatosis Intestinalis
A linear pattern of extraluminal gas (arrows) is seen
within the small bowel wall, well appreciated along the
lateral margin of the bowel loop on this supine, plain

radiograph of the abdomen.
Figure 22.1.11: Pneumatosis intestinalis
Pneumoperitoneum
Radiograph of the abdomen in the erect position
shows a large amount of free air (arrows) within
the peritoneal cavity, outlining the domes of the
diaphragm. The visceral shadows as well as the bowel
loops are displaced inferiorly.
466 Figure 22.1.12: Pneumoperitoneum

22.2 BRAIN
Picture Note
Aqueductal Stenosis
Sagittal T1W (Fig. 22.2.1A) and T2W (Fig. 22.2.1B)
MRIs reveal a dilated third ventricle (arrow) secondary
to aqueductal stenosis (arrowhead). Both the lateral
ventricles were also dilated. A dorsal cyst (black arrow)
is also seen incidentally.
A B
Figures 22.2.1A and B: Aqueductal stenosis
Craniopharyngioma

T1W sagittal MRI reveals a large, lobulated, extra-
axial cystic lesion within the suprasellar region. This
compresses and displaces the midbrain posteriorly.
A solid component is seen along its posteroinferior
margin (arrowhead).
Figure 22.2.2: Craniopharyngioma
Dandy-Walker Syndrome
T1W axial MRI (Fig. 22.2.3A) reveals a hypoplastic
cerebellar vermis. The fourth ventricle (arrow)
communicates with the cisterna magna (arrowhead),
with the characteristic ‘keyhole’ appearance. T1W
sagittal MRI (Fig. 22.2.3B) reveals a large posterior
fossa with superior displacement of the cerebellum
(arrow) and the torculi. Compression of the fourth
ventricle and aqueduct has led to hydrocephalus.
A B
Figures 22.2.3A and B: Dandy-Walker syndrome 467

Picture Note
Meningitis
Contrast-enhanced T1W axial MRI reveals
leptomeningeal enhancement (arrows) along the
perimesencephalic cisterns.
Figure 22.2.4: Meningitis
Neurocysticercus Granuloma
Axial T2W (Fig. 22.2.5A) and contrast-enhanced T1W
(Fig. 22.2.5B) MRIs reveal a small round ring enhancing
lesion (arrow) in the right temporal subcortical gray
matter. Surrounding vasogenic edema is seen on the
T2W image. A nodular component representing the
scolex (arrowhead) is noted along the rim.
A B
Figures 22.2.5A and B: Neurocysticercus granuloma
Perinatal Insult
Axial (Fig. 22.2.6A) and coronal (Fig. 22.2.6B) T1W
MRIs reveal periventricular increased signal intensity
(arrows). Mild dilatation of the lateral ventricles is seen
secondary to white matter volume loss.
A B
468
Figures 22.2.6A and B: Perinatal insult
Picture Note
Pilocytic Astrocytoma
Contrast-enhanced axial T1W MRI reveals a large
cystic lesion (arrow) with a mural nodule (arrowhead)
involving the right cerebellar hemisphere.
Figure 22.2.7: Pilocytic astrocytoma

Pontine Glioma
T1W sagittal (Fig. 22.2.8A) and T2W coronal (Fig. 22.2.8B)
MRIs show a well-defined lesion (arrow) involving
the pons and the pontomedullary junction. It shows
low T1 and high T2 signal. It did not show significant
enhancement on the contrast-enhanced images.
A B
Figures 22.2.8A and B: Pontine glioma
Tuberculoma
Contrast-enhanced axial CT scan shows a well-
defined, oval, rim-enhancing lesion (arrow) in the right
frontal cortex with surrounding vasogenic edema. Few
other smaller enhancing lesions (arrowhead) are seen
scattered in the brain parenchyma.
469
Figure 22.2.9: Tuberculoma
Picture Note
Tuberous Sclerosis
Axial T1W (Fig. 22.2.10A) and GRASE (Fig. 22.2.10B)
MRIs reveal multiple cortical tubers (arrows) in
both cerebral hemispheres. A tiny subependymal
hamartoma (arrowhead) is noted along the lateral
margin of the left lateral ventricle.
A B
Figures 22.2.10A and B: Tuberous sclerosis
22.3 CHEST
Arteriovenous Malformation
Axial high-resolution CT scan (Fig. 22.3.1A) shows
an ill-defined opacity (arrow), in the right upper
lobe. Axial maximum intensity projection (MIP)
reconstructed CT angiogram (Fig. 22.3.1B) shows
the arterial feeder and draining vein (arrows) of the
arteriovenous malformation.
A B
Figures 22.3.1A and B: Arteriovenous malformation
Bronchogenic Cyst
Barium swallow (Fig. 22.3.2A) shows an anteriorly
displaced and compressed esophagus (arrow) due to
a posteriorly located lesion. Axial contrast-enhanced
CT scan (Fig. 22.3.2B) reveals an oval prevertebral fluid
density lesion (arrow), which displaces the trachea
anteriorly.
A B
470 Figures 22.3.2A and B: Bronchogenic cyst

Picture Note
Bronchopulmonary Dysplasia (BPD)

Frontal chest radiograph (Fig. 22.3.3A) reveals patchy
areas of fibrosis. High-resolution CT scan (Fig. 22.3.3B)
reveals a coarse reticular pattern with areas of fibrosis.
Multiple tiny cysts are seen bilaterally.
A B
Figures 22.3.3A and B: Bronchopulmonary dysplasia (BPD)
Congenital Cystic Adenomatoid Malformation (CCAM)

Chest radiograph (Fig. 22.3.4A) reveals a
multiloculated cystic lesion (arrow) in the left lower
lobe. Coronal CT scan (Fig. 22.3.4B) shows this lesion
well (arrows).
A B
Figures 22.3.4A and B: Congenital cystic adenomatoid malformation

(CCAM)
Congenital Diaphragmatic Hernia

Frontal chest radiograph (Fig. 22.3.5A) in a child
shows left mid and lower hemithorax heterogeneous
opacities with air-fluid levels (arrow). Axial CT scan
(Fig. 22.3.5B) reveals bowel-loops (arrows) within
the left posterolateral hemithorax suggestive of a
Bochdalek hernia.
A B
Figures 22.3.5A and B: Congenital diaphragmatic hernia
471
Picture Note
Congenital Lobar Emphysema (CLE)

Coronal mean reconstruction simulating a frontal
chest radiograph (Fig. 22.3.6A) in an infant with
respiratory distress reveals significant overinflation of
the left lung with shift to the right. High-resolution CT
scan (Fig. 22.3.6B) reveals a hyperleucent expanded
left upper lobe (arrow) with mediastinal shift. An
inadvertent ICD tube (arrowhead) is seen because the
A B
lesion was mistaken to be pneumothorax. Note the
Figures 22.3.6A and B: Congenital lobar emphysema (CLE) associated bilateral consolidation.
Hyaline Membrane Disease

Frontal chest radiograph in a neonate shows a ground
glass haze with fine reticulonodular shadowing and an
air bronchogram pattern in a premature born neonate
with symptoms of respiratory distress.
Figure 22.3.7: Hyaline membrane disease
Lung Abscess
Frontal (Fig. 22.3.8A) and lateral (Fig. 22.3.8B) chest
radiographs show a large thick-walled abscess cavity
(arrow) with an air-fluid level, in the right middle lobe.
A B
Figures 22.3.8A and B: Lung abscess

472
Picture Note
Lymphoma
Frontal chest radiograph (Fig. 22.3.9A) shows
mediastinal opacities bilaterally (arrows). Axial
contrast-enhanced CT scan (Fig. 22.3.9B) shows a
prevascular space mass (arrows) partly encasing the
mediastinal vessels. A CT-guided core biopsy revealed
Hodgkin’s disease.
A B
Figures 22.3.9A and B: Lymphoma
Pulmonary Alveolar Microlithiasis

Frontal chest radiograph (Fig. 22.3.10A) reveals a high-
density interstitial reticular pattern. High-resolution
CT scan (Fig. 22.3.10B) shows high-density intralobular
interstitial and septal thickening with alveolar
opacities and diffuse septal and pleural calcification/
ossification.
A B
Figures 22.3.10A and B: Pulmonary alveolar microlithiasis
Sequestration
Frontal chest radiograph (Fig. 22.3.11A) reveals an
ill-defined opacity (arrow) in the right lower lobe. A
coronal contrast-enhanced CT scan (Fig. 22.3.11B)
shows this to be a necrotic lesion (arrow) supplied by a
systemic artery from the aorta (arrowhead), confirming
it to be sequestration.
A B
Figures 22.3.11A and B: Sequestration 473

Picture Note
Tension Pneumothorax
Frontal chest radiograph shows a large right
pneumothorax with mediastinal shift towards the left,
inversion of the diaphragm and herniation of the right
lung to the contralateral side.
Figure 22.3.12: Tension pneumothorax

Total Anomalous Pulmonary Venous Return

Reconstructed CT angiogram in a 12-year-old boy
shows that the pulmonary veins are seen to unite to
form a common channel that then enters the dilated
SVC.
Figure 22.3.13: Total anomalous pulmonary venous return
Vascular Ring
Axial maximum intensity projection (MIP) CT
angiogram (Fig. 22.3.14A) shows a right sided aortic
arch with an anomalous origin of the left subclavian
artery (arrow) producing a vascular ring and
compression of the trachea (arrowhead), which is
better appreciated on the contrast-enhanced sagittal
CT scan (Fig. 22.3.14B).
A B
474 Figures 22.3.14A and B: Vascular ring

22.4 CONGENITAL (MULTIORGAN)
Picture Note
Branchial Cleft Cyst

Longitudinal ultrasound (Fig. 22.4.1A) reveals an oval,
thick-walled cyst with dense internal echoes along
the upper third of the sternocleidomastoid muscle.
Axial T2W MRI of the neck (Fig. 22.4.1B) reveals an
oval, thick-walled cystic lesion (arrow) in the right
parapharyngeal region.
A B
Figures 22.4.1A and B: Branchial cleft cyst
Cystic Hygroma

Axial (Fig. 22.4.2A) and coronal (Fig. 22.4.2B) T2W
MRIs reveal a large, cystic, multiloculated lesion
(arrow) along the left lateral aspect of the neck with
high signal intensity fluid within. One of the cysts in
the coronal MRI shows a lower signal with a fluid-fluid
level (arrow) suggesting the presence of hemorrhage
within.
A B
Figures 22.4.2A and B: Cystic hygroma
Myelomeningocele with Sacral Agenesis

Sagittal T1W (Fig. 22.4.3A) and T2W (Fig. 22.4.3B)
MRIs reveal a large, posterior outpouching (arrow) of
the dura in the thoracolumbar region. The nerve roots
appear stretched with tethering of the cord. The lumbar
vertebrae are fused and sacral agenesis is present.
A B
Figures 22.4.3A and B: Myelomeningocele with sacral agenesis 475

Picture Note
Thyroglossal Cyst
Transverse (Fig. 22.4.4A) and longitudinal
(Fig. 22.4.4B) ultrasounds reveal a midline infrahyoid
cystic lesion with thick walls, internal septae and dense
internal echoes. The cyst shows intense posterior
enhancement.
A B
Figures 22.4.4A and B: Thyroglossal cyst
22.5 MUSCULOSKELETAL
Aneurysmal Bone Cyst

Frontal radiograph of the right hip (Fig. 22.5.1A) shows
an expansile, trabeculated osteolytic lesion (arrow)
involving the ischium with cortical thinning and a
preserved endosteal margin. Axial T2W MRI
(Fig. 22.5.1B) reveals multiple fluid-fluid levels (arrow)
within the cystic spaces.
A B
Figures 22.5.1A and B: Aneurysmal bone cyst
Coalition—Calcaneonavicular
Oblique radiograph of the foot (Fig. 22.5.2A) shows
fibrous calcaneonavicular coalition (arrow), which is
also well seen on the sagittal T2W MRI (Fig. 22.5.2B).
A B
Figures 22.5.2A and B: Coalition—calcaneonavicular

476
Picture Note
Congenital Dislocation of Hip

Frontal radiograph of both hips (Fig. 22.5.3A) shows
that the left acetabulum is shallow and the femoral
head is displaced upwards and laterally from the
normal position and shows evidence of remodeling.
The coronal T2W MRI (Fig. 22.5.3B) shows the
dysplasia and subluxation, the shallow acetabulum
and eversion of the labrum (arrow) and capsule.
A B
Figures 22.5.3A and B: Congenital dislocation of hip
Ewing’s Sarcoma
Frontal radiograph of the pelvis shows a large,

expansile, sclerotic lesion (arrows) with ill-defined
margins seen involving the left hemipelvis.
Figure 22.5.4: Ewing’s sarcoma
Fibrous Dysplasia
Frontal radiograph of the arm shows bony deformity of
the humerus as a result of bone softening. Expansion of
the bone with a fracture is seen proximally with cotton
wool like increased bone density (arrow) within the
humeral shaft.
Figure 22.5.5: Fibrous dysplasia

477
Picture Note
Hemophilia
Frontal radiograph of the knee shows osteopenia with
a coarse trabecular pattern in the femoral and tibial
epiphyses. Early widening of the intercondylar notch
(arrow) is also present.
Figure 22.5.6: Hemophilia
Langerhan’s Cell Histiocytosis

Frontal radiograph of the skull (Fig. 22.5.7A) shows

well-defined osteolytic lesions (arrows) with a
characteristic ‘punched-out’ appearance. Axial
CT scan of the brain (Fig. 22.5.7B) reveals cortical
destruction (arrow) involving the left squamous and
petrous temporal bones. A small area of destruction
(arrowhead) is seen involving the right petrous
temporal bone as well.
A B
Figures 22.5.7A and B: Langerhan’s cell histiocytosis
Mucopolysaccharidosis
Lateral radiograph of the spine (Fig. 22.5.8A) reveals
osteopenia with flattened vertebrae (platyspondyly)
with protrusion of a central tongue of bone from the
anterior aspect of the vertebral body (central beaking).
There is atlantoaxial instability from odontoid
dysplasia seen on the lateral radiograph of the cranio-
vertebral junction (Fig. 22.5.8B).
A B
Figures 22.5.8A and B: Mucopolysaccharidosis

478
Picture Note
Nonossifying Fibroma
Frontal (Fig. 22.5.9A) and lateral (Fig. 22.5.9B)
radiographs show a well-defined osteolytic lesion
(arrow) with a narrow zone of transition and a sclerotic
rim involving the cortex of the lower diaphysis of the
femur.
A B
Figures 22.5.9A and B: Nonossifying fibroma

Osteogenesis Imperfecta
Plain radiographs of the upper (Fig. 22.5.10A) and
lower (Fig. 22.5.10B) limbs show osteoporosis and
bowing of the long bones with fractures (arrows).
A B
Figures 22.5.10A and B: Osteogenesis imperfecta
Osteogenic Sarcoma
Lateral radiograph (Fig. 22.5.11A) of the distal femur
shows an ill-defined bone-forming tumor (arrows)
involving the metadiaphysis. Cortical erosion is seen.
The periosteum is elevated (arrowhead) along the
superior margin (Codman’s triangle) Sagittal T2W MRI
(Fig. 22.5.11B) reveals areas of necrosis (arrow) within
the lesion, mainly in the subperiosteal soft tissue
component. Marrow involvement is seen.
A B
Figures 22.5.11A and B: Osteogenic sarcoma

479
Picture Note
Osteoid Osteoma
Oblique radiograph of the hip (Fig. 22.5.12A) shows
an oval, osteolytic lesion (arrow) in the proximal
diaphysis of the right femur, with surrounding
sclerosis and cortical thickening. A coronal STIR
MRI (Fig. 22.5.12B) shows the osteolytic lesion
(arrow) well with surrounding marrow edema and
effusion.
A B
Figures 22.5.12A and B: Osteoid osteoma
Osteomyelitis
Frontal radiograph of the left femur (Fig. 22.5.13A)

shows ill-defined sclerosis with cortical thickening
and periosteal reaction. Sequestra are seen (arrows).
Contrast-enhanced axial T1W MRI (Fig. 22.5.13B)
in another patient with early osteomyelitis reveals
marrow enhancement (arrow) within the tibia with
necrosis (arrowhead) within and surrounding soft
tissue edema.
A B
Figures 22.5.13A and B: Osteomyelitis
Osteopetrosis
Lateral radiograph of the skull (Fig. 22.5.14A) reveals
sclerosis and thickening involving the skull bones
especially evident in the frontal bones and anterior
cranial fossa. A Rugger-Jersey spine is seen with a bone
within bone appearance in a lateral radiograph of the
dorsal spine (Fig. 22.5.14B).
A B
Figures 22.5.14A and B: Osteopetrosis

480
Picture Note
Perthes’ Disease
Frontal radiograph of the right hip joint shows
flattening, sclerosis and irregularity of the epiphysis
with subphyseal cystic changes and metaphyseal
remodeling.
Figure 22.5.15: Perthes’ disease
Rickets

Frontal radiographs of the knee (Fig. 22.5.16A) and
wrist (Fig. 22.5.16B) show splaying of the metaphyses,
fraying of the metaphyseal margins and widening of
the physeal plates.
A B
Figures 22.5.16A and B: Rickets
Scurvy
Frontal radiograph of the knee reveals sharp sclerotic
epiphyseal margins ‘Wimberger’s sign’ with a dense
appearing zone of provisional calcification along the
growing metaphysis, ‘Frankel’s line’ and a lucent zone
underlying this, the ‘Trummerfeld zone’ representing
the lack of mineralized osteoid. ‘Pelkan spurs’ resulting
from fractures at the cortical margins are visualized.
Periosteal elevation resulting from subperiosteal
hemorrhage is seen, more prominently along the
lateral femoral surface.
Figure 22.5.17: Scurvy 481

Picture Note
Thalassemia
Frontal radiograph of the hand (Fig. 22.5.18A) shows
coarse trabeculae with expansion of the bones and
thinning of the cortices due to marrow hyperplasia
involving the metacarpals and phalanges. Lateral skull
radiograph (Fig. 22.5.18B) shows a thickened outer
table with the characteristic hair-on-end appearance
predominantly involving the frontal region.
A B
Figures 22.5.18A and B: Thalassemia
Tuberculosis Ankle
Oblique radiograph of the foot (Fig. 22.5.19A) shows
periarticular osteopenia. STIR coronal MRI (Fig.
22.5.19B) reveals marrow edema (arrow) involving the

tarsal bones along with peripheral soft tissue edema.
Synovial thickening is also seen.
A B
Figures 22.5.19A and B: Tuberculosis ankle
Tuberculous Dactylitis
Frontal radiograph of the right hand and wrist shows
expansion of the right fourth metacarpal bone
(arrow) with cortical thickening and sclerosis. Marrow
expansion may occur.
482 Figure 22.5.20: Tuberculous dactylitis

Index
Page numbers followed by f refer to figure
A suppurative otitis media 119f Ambiguous genitalia 15, 15f

urticaria 283 Amblyopia 381f
Abandoned Adam’s Amplatzer device 111, 111f
newborn with apple in boys 305, 305f Amylase rich foods 42
congenital anomalies 342f test 329, 329f Anal agenesis 11, 11f
marasmus 342, 342f Addison’s disease 233, 233f Androgen insensitivity syndrome 233f
rat bite marks 339, 339f Adenoid Anemia
distention 10, 10f facies 120, 120f, 401 bone marrow failure syndrome 194,
lump 211, 211f hypertrophy 120f 194f
veins 157f Adolescent child with pallor 183, 183f
Abscess 425, 425f dermatology and sexually transmitted
Absent hemolytic 183-192
disease 324 in newborn 199, 199f
bright postpituitary spot in central friendly health services 335, 335f
diabetes insipidus 236f kala-azar 193
scoliosis 328, 328f, 329, 329f malaria 193
pulmonary valve syndrome 105, 105f Adrenal
Acanthosis 233, 233f nutritional 194-196, 196f
calcification 166f
nigricans 160f, 365, 365f iron deficiency anemia 194f
hypoplasia congenital 249f
in non-alcoholic fatty liver disease Anencephaly 80
tumor 249, 249f
160 with large meningocele 80
Adrenocorticotropic hormone 79
Accessory nipple 307, 307f Aneurysmal bone cyst 476, 476f
Advanced
Accommodative esotropia 381, 381f Angelman syndrome 261, 261f
axillary hair growth in boys 304f
Achalasia cardia 160, 160f, 433 Angiography 110
stage retinoblastoma 219f
Acholic stools 10, 10f Angular stomatitis 38
Airway foreign body 431
Achondrogenesis 269, 269f Alagille syndrome 165, 165f Animal bite injuries in face and scrotum
Achondroplasia 11, 11f, 270, 270f Alkaline phosphatase 148 57f
Acne vulgaris 366, 366f Allergic Anomalous left coronary artery from
Acrocephalosyndactyly 272, 272f conjunctivitis 283, 283f, 287, 288f, pulmonary artery 96
Acrocyanosis 3, 3f 319, 319f Ano-rectal malformations 438f
Acrodermatitis enteropathica 161, 161f conjunctival pigments 287 Antenatal hydronephrosis 440f, 441f
Acute Horner-Trantas spots 288 Anterior encephalocele 67, 67f
follicular tonsillitis 119, 119f limbal gelatinous nodules 288 Antrochoanal polyp 402
hydrocephalus 87 limbus nodules 288 Anxiety 336
laryngotracheobronchitis 119 gape 289, 289f Apert syndrome 90, 90f, 272, 272f
liver failure 163 giant papillary conjunctivitis 289, 289f Aplasia of corpus callosum 272, 272f
lymphoblastic leukemia 174, 198, line 283, 283f Aplastic anemia 194, 194f
198f, 213 mannerisms 289, 289f Appendicitis 463, 463f
osteomyelitis 457, 457f rhinitis 120, 120f, 289, 291, 401, 401f, Appendicolith with bowel obstruction
otitis media 119, 401, 401f 402, 402f 463, 463f
pancreatitis 147 salute 290, 290f Apthous ulcers 155f
raised intracranial pressure 229, 229f shiners 284, 284f Aqueductal stenosis 75, 75f, 80, 467
respiratory distress syndrome 60, 120, Allergy skin testing 290, 290f, 291f, 291 ARDS in dengue hemorrhagic fever 120f
131 Alopecia areata 359, 359f Arnold-Chiari malformation 67
septic arthritis 457 Alveolar rhabdomyosarcoma of chest Arterial switch operation 97, 113
sinusitis 285 wall 220f Arteriovenous malformation 470, 470f
Arthrogryposis multiplex congenital 458, Bitot’s spots 160f, 318, 318f Capillary
458f Bladder leak syndrome 12, 12f
Arylsulfatase 85 calculi 441 refill time 3, 3f
Ashleaf macule 79 diverticulum 174, 174f Capnocytophaga canimorsus 61
Askin rosai tumor 211, 211f Bleeding disorder 196-198, 198f Caput succedaneum 4, 4f
Aspergillous cavity in lung 213, 213f Blepharophimosis syndrome 395, 395f Cardiac defects 421
Asthma 121, 121f Blood pressure 336 Cardiofacial syndrome 273, 273f
Asymmetric crying facies 273, 273f Blount’s disease 452 Cardiofaciocutaneous syndrome 273,
Ataxia telangiectasia 70f, 277, 277f Body 273f
Atopic dermatitis 284, 284f, 359f piercing and tattooing 321 Carpenter syndrome 273, 273f
Atrioventricular septal defect 101, 101f, tattoo 322f Castleman’s disease 132, 132f
115 Bone marrow infiltration with Cavitatory tuberculosis with necrotizing
Atypical neuroblastoma cells 217f bronchopneumonia 128, 128f
genitalia 233, 233f, 234, 234f Bony metastases in neuroblastoma 217f Cellulitis 359, 359f
teratoid rhabdoid tumor of brain 225, Boy of nose 122f
225f crushing stones 348f Cellulose acetate electrophoresis 187
Autoimmune hemolytic anemia on fixing screws on machine 349f Central
steroid therapy 199, 199f with stone hanging from neck 343f precocious puberty 242f
Autologous serum skin test 291, 291f working in puffed rice factory 348f with hypothalamic hamartoma 242
Axillary hair working on Cephalhematoma 6, 6f
growth in boys 304 street pot hole 348f Cerebral infarct 72
in girls and boys 303 tea stall 352f, 352f, 353f Cervical
Brachial plexus birth injury 68 lymphadenopathy of Hodgkin’s
B Branchial lymphoma 215, 215f
cleft cyst 475, 475f myelomeningocele 67f
Bacterial infections 51 cyst/sinus 429 rib 331, 331f
Balloon fistula 409, 409f Characteristic rash of measles 56f
atrial septostomy 113 Breast Chemical injuries 391
dilatation of pulmonary valve 110, development in girls 303, 304, 304f Cherry red
110f engorgement 3, 3f polyp 153f
mitral valvotomy 110, 110f Bronchiectasis 121, 121f spot 90, 90f
Bardet-Biedl syndrome 272, 272f, 395, Bronchiolitis 122, 122f Chest tube drainage 139
395f obliterans organizing pneumonia 131f Chickenpox 16, 16f, 53, 53f
Barrel-chest in ventilated baby 121, 121f Bronchogenic cyst 132, 132f, 470, 470f in acute lymphoblastic leukemia 213
Bartter’s syndrome 178, 178f, 179 Bronchopulmonary dysplasia 471, 471f Child
Basal exudates meningitis 68 Brown syndrome 386, 386f abuse abandoned
Battered baby syndrome 205, 205f Brucellosis 59 in pediatric ward 343
Becker’s nevus 327, 327f Budd-Chiari syndrome 147, 147f, 463, newborn with congenital
Beckwith-Wiedemann syndrome 11, 11f, 463f anomalies 342
238, 264, 264f, 266 Bulging fissure sign 123, 123f abuse
Bell’s palsy 69, 309 Buried penis 234, 234f child used for entertainment 343
Benign Burkitt’s lymphoma 215 girls used for entertainment 343
childhood epilepsy with Burn Manchaunsan’s syndrome 346
centrotemporal spikes 75 injury on thighs 346f carrying stones 351f
joint hypermobility syndrome 299 on left leg, buttocks 345f labor boy
the larche 244f Button-battery crushing stones 348
Bilateral in stomach endotherapy 163f fixing screws on a machine 349
branchial fistula 429f battery ingestion 163 working in puffed rice factory 348
dilatation of pelvicalyceal system 169f working in tea stall 352, 353
paratracheal lymphadenopathy 130 working on street pot hole 348
pleural effusion in congenital
C
labor child
Chikungunya 125f Cabot’s ring 187 carrying cowdung cakes 351
ptosis 77f Cafè au lait macule 366, 366f carrying stones 351
Biliary Calcinosis cutis 296f laborers caught by police from
ascariasis 163, 163f Calculi 441 railway station 354
484 atresia 147, 147f, 433 Calf muscle hypertrophy 73, 73f selling earrings 354
Bilirubin encephalopathy 12, 12f Candidiasis 366, 366f working in garage 351
working in mines 350 Clarithromycin 196 laryngeal stridor 412f
working in mirchi field 352 Classical polycystic ovary on ultrasound lobar emphysema 18, 18f, 134, 134f,
working in workshop/factory 353 252f 472, 472f
labor children Cleft NLD obstruction 382, 382f
carrying heavy loads/bricks/stones lip and palate 425, 425f pseudarthrosis of tibia 453, 453f
on head 349 palate 409, 409f rubella syndrome 57
cleaning utensils 354 Clitoral hypertrophy 234, 234f scoliosis with skin marker 453, 453f
working in different industries 347 Cloaca 434 talipes equinovarus 16, 16f, 449, 449f
labor girl Closed pneumothorax 137 vertical talus 454, 454f
carrying earthen pots 350 Clubbing Conjunctival
carrying stone on head 347 and cyanosis 95, 95f suffusion in leptospirosis 60f
selling flowers, garlands 350 of fingers 148, 148 telangiectasia 70
labor young boy working at Coagulopathy in acute liver failure 163 Contact
construction site 353 Coarctation of aorta 97, 97f allergic dermatitis to footwear 325,
neglect Coarse facies and 325f
due to maternal neglect 345 dysostosis multiplex 69 dermatitis 6, 6f
burns with hot water 346 and umbilical hernia 69 lenses 320
rat bite 339 Cochlear implant 410, 410f Continuous positive airway pressure 124
nutrition 40f Cockayne syndrome 265, 265f Contrast-enhanced computerized
selling earrings 354f Coin in stomach 150 tomography 147
sexual abuse 342, 342f Cold centrifuge 189f Coomb’s test 199, 203
in children statewise data, 2010 Collodion baby 17, 17f, 367, 367f Corneal
341 Common ulcer 392, 392f
with neuropathic bladder postsurgery bile duct 159 xerosis 318f
for spina bifida 443f errors in Cornelia de Lange syndrome 90, 90f, 91,
working growth measurements 28 91f, 265, 265f
Index
in garage 351f recording head circumference 30 Coronary
mines 350f recording height 29 artery dilatation in Kawasaki disease
mirchi field 352f recording length 28, 28f 105, 105f
workshop/factory 353f Community programs 332 heart disease 115
Children Complete heart block 112, 112f Corporal punishment by teacher 307,
carrying heavy loads/bricks/stones on Comprehensive Welfare Schemes 35 307f
head 349f Condyloma acuminata 328, 328f Corpus callosum agenesis 70, 70f, 71, 71f
washing utensils 354f Congenital Corrosive stricture esophagus 148
Chlordiazepoxide 196 adrenal hyperplasia 15, 235, 235f, 242, Cosmetic
Chloroma 227, 227f 253f contact lenses 320, 320f
Choanal atresia 409, 409f cataract 382 scleral contact lens 320
Choledochal cyst 159, 433, 464, 464f cystadenomatoid malformation 431 Cover test 73
Cholestasis cystic Cow’s milk protein allergy 153
with intense pruritus 148f adenoid malformation of lung 431f Cranial auscultation 87
with pruritus 148 adenomatoid malformation 18, Craniopharyngioma 235, 467, 467f
Choreoathetoid CP 72f 133, 133f, 471, 471f Cri du Chat 261, 261f
Choreoathetosis 72 diaphragmatic hernia 18, 18f, 133, Crohn’s disease 149, 155
Chorioretinitis in cytomegalovirus 133f, 431, 471, 471f Crouzon syndrome 274, 274f, 396, 396f
infection 54f dislocation of CT paranasal sinuses 285, 285f
Choroid tubercles 91, 91f hip 477, 477f Cushing’s
Chronic knee 453, 453f disease 236, 236f
bullous dermatosis of childhood 367, ear 410, 410f syndrome 249
367f esophageal stenosis 161 Cutaneous
calcific pancreatitits 155 fibrosarcoma of foot 225 larva migrans 360, 360f
kidney disease 174, 177, 177f glaucoma 16, 16f T-cell lymphoma 228f
with genu valgum deformity 174f heart disease 95 Cutis laxa 277, 277f
osteomyelitis 449, 449f hepatic fibrosis 161, 161f Cyanosis 12, 12f
sinusitis 285 hydrocele 425, 425f Cyanotic congenital heart diseases 95
Cidofovir 363 hypertrophic pyloric stenosis 464, Cyclic adenosine monophosphate 255
Ciprofloxacin 196 464f Cyclophosphamide 194 485
Cirrhosis liver 149f hypothyroidism 69, 69f Cyclosporin A 194
Cystic hygroma 225, 225f, 410, 410f, 429, Donut sign 164f Epispadias 442, 442f
475, 475f Dorsal dermal sinus 63f Epistaxis 415, 415f
Cytomegalovirus 54 Double Equipment for
bubble sign 434f asthma therapy 140
D jointedness 299 resuscitation and O2 therapy 141
Down’s syndrome 115, 230, 230f, 262, Erb’s palsy 7, 7f, 451, 451f
Dactylitis in sickle cell anemia 183, 183f 396, 396f, 420, 420f Erysipelas 361, 361f
Dandruff 324, 324f Doxycycline 196 Erythema
Dandy-Walker Duane’s retraction syndrome 388, 388f multiforme 63f, 377, 377f
anomaly 263 Duchenne muscular dystrophy 73 nodosum 51, 51f, 368, 368f
malformation 274, 274f Duodenal Erythematous
syndrome 80, 467, 467f atresia 434, 438f exfoliate lesions 62f
Day care transfusion center 190f ulcer 149, 149f maculopapular lesions 54f
De Sanctis-Cacchione syndrome 92 Dyshormonogenesis 237f Esophageal
Deafness 72 Dyskeratosis congenital 206, 206f atresia 134, 134f
Decompensated liver disease 149 Dysostosis multiplex 69f foreign body 413, 413f
Deletion of 5P terminal 261 Dysplastic left kidney with poor function stenosis 161f
Dengue 54 171f varices 150f
hemorrhagic fever 54, 54f Dystrophy of nail 206 ET position 19f
shock syndrome 54 Ethicillin resistant staphylococcal aureus
Dennis Morgan folds 291, 291f
E 62
Dental Ethmoidal polyp 404, 404f

braces 313, 313f Ear Ethmoiditis 411
caries 313, 336 bleed 415, 415f Eventration of left dome of diaphragm
implant 316, 316f contact dermatitis 321 134f
malocclusion distocclusion 313, 313f discharge 403, 403f Ewing’s sarcoma 212, 477, 477f
Depression 336 perichondritis 321, 321f of left ulna 212, 212f
Dermal leishmaniasis 63f syringing 403 of scapula 212
Dermatitis medicamentosa 309, 309f tags 411 Exomphalos 434, 434f
Dermatomyositis 367, 367f wax 403, 403f Exstrophy 442, 442f
Dermatosis of kwashiorkor 37, 37f Early Extensive thrush during leukemia
Desferal subcutaneous pump 191, 191f axillary hair growth in boys 3-4f chemotherapy 214f
Desmoid fibromatosis 226, 226f Perthes’ disease 450 Extracorporeal
Developmental dysplasia of hip 449, 449f pubertal facial hair in boys 304f membrane oxygenation 120, 135
Developmentally supportive care 22 stage retinoblastoma 219f short wave lithotrypsy 155
Device closure of ASD 106 tuberculosis of spine 450, 450f Extrahepatic portal venous obstruction
Devil’s horn 70, 70f Ebstein anomaly 102, 102f, 106, 106f 157
Dextrocardia with Echocardiographic machine 104, 104f Eye of tiger sign 82f
epicardial pacemaker 97, 97f Echthyma 360, 360f
situs Eczema herpeticum 377, 377f
F
inversus 98, 98f Edematous pancreas with areas of
solitus 98, 98f necrosis 147f Fabry disease 268, 268f
Diabetes insipidus 251 Edward syndrome 115, 115f Facial
Diamond Blackfan syndrome 205, 205f Ehlers-Danlos syndrome 277, 277f, 299 asymmetry with intestinal
Diaper dermatitis 360, 360f Eisenmenger syndrome 99, 99f lymphangiectasia 165f
DiGeorge syndrome 114, 143 Ellis-Van Creveld syndrome 270, 270f hair development in boys 304
Dilated Empyema 122, 432 nerve palsy 221, 221f
cardiomyopathy 98, 98f, 109f Enamel hypoplasia 72 palsy 404, 404f
esophagus with smooth narrowing at Enchondromatosis 458, 458f trauma 416, 416f
cardia 433f Enlarged kidney 174 Facioscapulohumeral muscular
Diplegic with convergent squint 72, 72f ENT examination 404f dystrophy 80, 80f, 81f, 82
Discoid lupus erythematosus 368, 368f Enterovirus 54 False foreign body inchest 137, 137f
Disorder of sex development 441f Enthesitis related arthritis 293, 293f Fanconi’s
Displaced supracondylar fracture Enzyme replacement therapy 268 anemia 206, 206f
humerus 457f Ependymoma 212, 212f pancytopenia 278, 278f
486 Disseminated intravascular coagulation Epidermal nevus syndrome 82 Feeding cues 4, 4f
204, 204f Epidermolysis bullosa 17, 17f, 368, 368f Fetomaternal transfusion 199, 199f
Fibrous dysplasia 477, 477f Granuloma 428f Hepatosplenomegaly in brucellosis 59f
Fibular hemimelia 454, 454f Grasping and sucking reflexes 27 Hereditary
Fine Gratification phenomenon 74, 74f elliptocytosis 200, 200f
motor skills 32 Graves’ disease 249, 249f multiple exostosis 459, 459f
needle aspiration cytology 414f Griscelli syndrome with spherocytosis 201, 201f
Fissure in ano 150, 150f hemophagocytosis 278, 278f in family 201, 202f
Fixed drug Grommet 405 Herpes
eruption 196, 369, 369f Gross encephalitis 87f
reaction 196, 196f motor skills 32 simplex 370, 370f
Flaky paint dermatosis 37 thickening of skin 151f virus 55
Flexural eczema 284 Growth zoster 361, 361f
Fluconazole 196 hormone deficiency 237, 237f Heterotopia 83
Fluorescence in situ hybridization 114, retardation 206 Hiatus hernia 142
261, 262 Guthaka and pan stains 315 Hickman catheter for leukemia therapy
Food impaction in esophagus 164 Gynecomastia 238 223, 223f
Forchheimer spots 57 in Klinefelter syndrome 238f Hidradenitis suppurativa 327, 327f
Foreign body High
aspiration 138, 138f H frequency ventilation 124
bronchus 416, 416f performance liquid chromatography
right bronchus 138, 138f Habitual constipation 152 188
stomach 150 Hair Hilar lymphadenopathy 130
Fracture development in boys 304f Hirschsprung’s disease 152, 436
nasal bone 418, 418f gel 325, 325f HIV 55
on upper central incisors 315f perming 325, 325f Hodgkin’s lymphoma 215
Fragile X syndrome 278, 278f Hairy pinna in PHHI 241f Holoprosencephaly 275, 275f
Fragments of extracted tooth 316, 316f Hallermann-Streiff syndrome 265, 265f Holt-Oram syndrome 275, 275f
Hallervorden-Spatz disease 82
Index
Fresh frozen plasma 163 Homogeneous appearance 143
Frontal encephalocele 63 Hand, foot and mouth disease 54, 54f, Horner-Trantas spots 288, 288f
Fungal dermatitis 17, 17f 369, 369f Hot
Furuncle 361, 361f Hansen’s disease 369, 369f cross bun appearance 186, 186f
Furunculosis ear 405, 405f Head and neck conditions 429 spot near umbilicus 438f
Headache 336 Humane neonatal care 22
Healed vasculitic ulcer 297f
G Hunter syndrome 269f
Health education Hurler
Gallstones 159f for teens 332, 332f phenotype 69
Gangrene of terminal phalanges 311, program 40, 40f syndrome 268
311f Hearing Hyaline membrane disease 472, 472f
Gastric ulcer 151, 151f loss 405, 405f Hydatid cyst 140, 140
Gastroesophageal reflux disease 156 screening 21, 21f Hydranencephaly 84
Gastrointestinal and hepatobiliary Heart diseases subsections 96 Hydrocephalus 74, 74f, 75, 426, 426f
disorders 433 Heat shock protein 294 Hydropneumothorax 123f
Gastroschisis 13, 435 Helicobacter pylori 149 Hydrops 13, 13f
Gaucher’s disease 200, 200f Hemangioma 370, 370f, 411, 411f, 426 Hypermetropia 382, 382f
Genitourinary infections 336 Hematocolpos 464, 464f Hypermobility syndrome 299
Genu valgum deformity 174 Hematological emergencies 204 Hyperpigmented nipples 235f
Girl carrying Hematoma scalp 164f Hypochromic microcytic anemia 195f
cowdung cakes 351f Hemihyperplasia 266, 266f Hypogammaglobulinemia 205
earthen pots 350f Hemihypertrophy 238, 238f Hypoglycemia screening 21, 21f
stone on head 347f Hemihypomelanosis of Ito 82 Hypohydrotic ectodermal dysplasia 310,
Glanzmann’s thrombasthenia 207, 207f Hemimegalencephaly 82, 83 310f
Glutamyl transpeptidase 151 Hemiplegic CP 72, 73f Hypomelanosis of Ito 91, 91f
Glutaric acidemia 81, 81f Hemoglobin 336 Hypoparathyroidism causing carpopedal
Glycogen storage disorder 151 Hemolytic uremic syndrome 205, 205f spasm 250, 250f
Goiter 237, 237f, 336 Hemophilia 197, 478, 478f Hypopigmentation over bony points 297f
Goldenhar syndrome 397, 397f Hennekam’s syndrome 165 Hypoplasia of right lung 135, 135f
Gonadotropin releasing analog 242 Henoch Schönlein purpura 377, 377f Hypopyon 317 487
Gottron’s papules 296f Hepatoblastoma 226, 226f Hypospadias 442, 442f
Hypothyroidism Interstitial lung disease 135, 135f Laminar flow 190f
causing pituitary mass 250 Intestinal Langer syndrome 250, 250f
congenital 239 malrotation with midgut volvulus 438f Langerhan’s cell histiocytosis 213, 251,
juvenile 239 obstruction 465, 465f 478, 478f
with anemia 202 peritonitis 439f Large
Hypoxic ischemic encephalopathy 70 roundworm infestations 437, 437f head Dandy-Walker syndrome 80
Intracardiac repair 105 hemangioma 310, 310f
Intracytoplasmic sperm injection 262
I umbilical hernia 162f
Intrauterine growth retardation 7, 7f
Laron dwarfism 254, 254f
I-cell disease 268, 268f Intravenous immunoglobulin 54, 96
Larsen syndrome 279, 279f
Iatrogenic—Cushing 235f Intussusception 164, 437, 465, 465f
Laryngeal papilloma 412, 412f
Iceberg of malnutrition 36, 36f Iron deficiency anemia 194
Irregular ulcers skip lesions 149f Laryngomalacia 412, 412f
Ichthyosis vulgaris 370, 370f
LASIK surgery 320, 320f
Icthyma gangrenosum with pneumonia
J Lawrence-Moon-Biedl syndrome 255
214, 214f
Leflunomide 294
Idiopathic Japanese encephalitis 88, 88f Left inguinal hernia in
hypertrophic pyloric stenosis 436f Jaundice 8, 8f female child 426f
nephrotic syndrome 172f Jejuno-ileal atresia 437, 437f male child 426f
on long-term steroid therapy 171, Joulie’s solution 176
Legg-Calvé-Perthes disease 450
171f Juvenile
Lennox-Gastaut syndrome 75, 75f, 76
with cushingoid features 172 angiofibroma 412, 412f

Leptospirosis 60
scoliosis 454, 454f dermatomyositis 296, 296f
calcinosis cutis 296 Leri-Weil dyschondrosteosis 250
thrombocytopenic purpura 197, 197f Leukemia 213, 214, 227
Ileocolonic nodular swellings 296f
hypothyroidism 239f cutis 226, 226f
irregular ulcers on colonoscopy 152f Leukocyte filter 190, 190f
idiopathic
tuberculosis 152 Leukoplakia 206
arthritis 295, 389, 389f
Illness intravenous immunoglobulin 61 Levocardia with situs inversus 99, 99f
oligoarthritis 293, 293f
Imaging in herpes encephalitis 87 polyarthritis 294, 294f Lichen
Impaction of Bengal gram in esophageal polyp 153 planus 371, 371f
stenosis 164f systemic sclerosis 297f striatus 372, 372f
Impedance audiometry 406, 406f healed vasculitic ulcer 297 Limb abnormalities 421
Imperforate anus 421 pursed lip appearance 297 Limbal gelatinous nodules 288f
Impetigo 362, 362f Limbus nodules 288f
Implantable cardioverter-defibrillator K Linear
102 nevus sebaceous syndrome 82, 83, 83f
Kala-azar 193f
Incontinentia pigmenti 92, 92f scleroderma 298, 298f
Kangaroo care 23, 23f
achromians 91 Kasabach-Merritt syndrome 207, 207f Lipodystrophy in HIV 62
Infant Kawasaki disease 61f, 96, 96f, 96, Lissencephaly 84, 84f
of diabetic mother 7 294, 294f Lobulated mass with calcification near
with thalassemia major 184, 184f Kayser-Fleicher ring 153 tail of pancreas 166f
Infantile Kelly’s syndrome 194 Long
esotropia 383, 383f Keratoconus 319, 319f face syndrome 292, 292f
glaucoma 388, 388f Keratosis pilaris 371, 371f QT syndrome 102, 102f
Infantometer 243f Kerion 362, 362f Loss of teeth after accident 315, 315f
Infectious diseases 49 Klebsiella pneumonia 123, 123f Low birth weight 23
Infective eczema 371, 371f Klinefelter syndrome 238, 262, 262f Lung
Infestation of scalp with pediculus Klippel-Trenaunay-Weber abscess 124, 124f, 472, 472f
humanus capitis 59f proteus syndrome 82 metastases in rhabdomyosarcoma
Inflammatory bowel disease 158 syndrome 311, 311f 222f
Inguinal hernia 13, 13f, 426 Kommerell’s diverticulum 418, 418f Lutembacher syndrome 106, 106f
Inhaled nitric oxide 124 Kwashiorkor 37, 37f Lymphoblastic lymphoma 215, 215f
Insect bite allergy 286f, 362, 362f Lymphoma 215, 227, 228, 473, 473f
Intermediate and high arm 435f L Lymphonodular hyperplasia 153, 153f
488 Intermittent exotropia 383, 383f Labial adhesions 427, 427f Lysosomal storage disorders 268
M Miliaria rubra 372, 372f Neurofibromatosis 230, 279, 279f, 398,
Miliary tuberculosis of lungs 125 398f
Macro-orchidia in hypothyroidism 251,
Miller-Dieker syndrome 92, 92f Neuropathic bladder 443
251f
Miscellaneous monogenic disorders 276 Nevus anemicus 373, 373f
Malaria 58, 193f
Mitral Newborn screening 21
Malignant
regurgitation 107f Night blindness 255f, 318
melanoma 317, 317f
stenosis 107, 107f Nodular swellings 296f
peripheral nerve sheath tumor 230f
Mobile Nonclassical congenital adrenal
Malnourished child 41
flat feet 451, 451f hyperplasia 251
Malnutrition
phone dermatitis 324, 324f Non-nucleoside reverse transcriptase
burden 35
Modern teen tattoo 323, 323f inhibitors 55
in adolescent boy 308, 308f
Molluscum contagiosum 328, 328f, 363, Nonossifying fibroma 479, 479f
Malrotation 438
363f Nonsteroidal anti-inflammatories 196
with midgut volvulus 154
Morphea 372, 372f Noonan syndrome 115, 115f, 255, 255f
Manchaunsan’s syndrome 346f
Mosaic dermatosis 37 Normal newborn 3, 4, 4f
Marasmic kwashiorkor 37, 37f
Mucopolysaccharidosis 268, 268f, 269, Nucleoside reverse transcriptase
Marasmus 38, 38f
269f, 478, 478f inhibitors 55
Marfan’s syndrome 279, 279f, 312, 312,
Multicystic dysplastic kidney 175, 175f Nutrition 308
397, 397f
Multidrug resistant 126 crisis amid prosperity 35f
Massive
Multiple education 40, 41
abdominal distention 436f
bony metastases in status of Indian children 31, 31f
pleural effusion 229, 229f
rhabdomyosarcoma 221f
splenomegaly 154, 154f
Maternal uniparental disomy 256
hemangioma 162f O
infantile hemangioma liver 162
Matted bowel loops 435f Obesity 241
Mumps 56
Mauriac syndrome 240, 240f in boy 308f
Munson’s sign 319, 319f
Maximum intensity projection 463 in girl 308f
Index
Muscular torticollis 455
McCune Albright Obstructive sleep apnea syndrome 401,
Musculoskeletal syndromes 299
syndrome 252, 255 421
Myasthenia gravis 77
with precocious puberty 252f Oculogyric spasm 77, 77f
Myelomeningocele with sacral agenesis
Measles 56 Omphalocele 14, 14f, 434f
475, 475f
bronchopneumonia 124, 124f Open thoracotomy 139
Myopathic facies 85, 85f
Meckel’s Operative cholangiography 433f
Myopia 384, 384f
diverticulitis 465, 465f Ophthalmia neonatorum 392, 392f
Myotonic dystrophy 85
diverticulum 438, 438f Ophthalmology 317
radio-isotope scan 438f Optic atrophy 384, 384f
scan 438 N Oral
Meconium Nasal apthous ulcers 155
aspiration syndrome 124 dermal sinus 63f candidiasis 55f
peritonitis 439 examination 406, 406f chelation therapy 191
plug syndrome 14, 14f polyp 402f herpetic lesion 55f
Mediastinal lymphadenopathy 230, 230f National nutrition programs 35 thrush 8, 8f
Medulloblastoma with acute Nebulizer 141, 141f Orbital
hydrocephalus 88 Necrotizing cellulitis 393, 393f, 411, 411f
Megaloblastic anemia 195, 195f enterocolitis 439, 439f floor fracture 393, 393f
Meningitis 468, 468f fasciitis 427, 427f rhabdomyosarcoma 222f, 389, 389f
Meningomyelocele 14, 14f Neonatal Orchidometer 241
Mesial temporal sclerosis 76, 76f chickenpox 53f Orientation program for teachers and
Metabolic screening 22, 22f cholestasis syndrome 154 parents 333, 333f, 334, 334f
Metachromatic leukodystrophy 85, 85f systemic disorders 10 Orofaciodigital syndrome 276, 276f
Method of examination ofnose 286, 286f Nephrocalcinosis 176 Osteochondritis dessicans 331, 331f
Methotrexate 294 Nephrotic syndrome on cyclosporine Osteogenesis imperfecta 270, 299, 455,
Methylprednisolone 194 looking normal 173 479, 479f
Microcephaly 76, 413 Nestrof test for thalassemia minor 187f Osteogenic sarcoma 479, 479f
Micronutrient deficiency 38 Neuroblastoma 136, 216, 217, 444 Osteoid osteoma 480, 480f
Micropenis 240, 240f Neurocysticercus granuloma 468, 468f Osteomyelitis 480, 480f
Microvascular complications small joint Neurodegeneration with brain iron Osteopetrosis 271, 271f, 480, 480f 489
involvement 236 accumulation 82 Osteoporosis syndrome 189
Osteosarcoma of Phlyctenular conjunctivitis 286, 286f Proptosis in
lower end of left femur 218, 218f Physiological genu valgum 452, 452f Langerhans’ cell histiocytosis 213f
upper end of left humerus 218, 218f Piercing of neuroblastoma 216f
Ostial stenosis of left renal artery on CT ear 321, 321f Protein-energy malnutrition 37
angiography 176, 176f nose 322, 322f Proteus syndrome 266, 266f
Ostium secundum 107, 107f Pierre-Robin sequence 15 Protrusion of umbilicus 428f
Otoacoustic emissions 413, 413f Pilocytic astrocytoma 469, 469f Proximal femoral focal deficiency 455,
Ovarian dermoids 466, 466f Pinna-hematoma 414, 414f 455f
Pituitary microadenoma 236, 236f Prune-belly syndrome 179, 179f
Prurigo nodularis 327, 327f
P Pityriasis
alba 363, 363f Pseudoachondroplasia 271, 271f
Pachygyria 83, 276, 276f rosea 373 Pseudoaneurysm
Pale and fissured tongue 38 versicolor 373, 373f communicating with hematoma and
Palmar erythema 155, 155f Pleuroblastoma 136f bile duct 162
Pan sinusitis 285, 285f Pneumatosis intestinalis 466, 466f hepatic artery 162f
Pancreatic calcification 155, 155f Pneumococcal pneumonia 126 Pseudocyst of pancreas 156, 156f
Paper Pneumocystis Pseudohypoparathyroidism 88, 88f
cellulose acetate 187f carinii 55, 55f Pseudoprecocious puberty 242, 242f, 253,
electrophoresis 187 jiroveci 126, 126f 253f
Paracetamol 196 pneumonia 126 Pseudostrabismus 385, 385f
Psoriasis 374, 374f
Paraesophageal hiatus hernia 142, 142f Pneumoperitoneum 19, 19f, 466, 466f
Parasites 58 Pneumothorax 20, 20f, 139, 432 Ptosis 385, 385f
Parotid gland enlargement in mumps 56f Polycystic ovary Puberty 238
Participation in sports important for gynecomastia 238f
disease 336
teens 306 Pubic hair and testes in boys 305, 305f
syndrome 252
Patent ductus arteriosus 57 Pulmonary
Polycythemia 15, 15f
Peak nasal inspiratory flow meter for agenesis 136, 136f
Polymorphous light eruption 374f
assessment of nasal obstruction alveolar microlithiasis 473, 473f
Polyp in left maxillary sinus 285, 285f
292, 292f AV fistula 111, 111f
Pontine glioma 469, 469f
Pediculosis capitis 363, 363f hypertension of newborn 135
Popeye appearance 81
Pediculus humanus capitis 59 vascular obstructive disease 101
Porencephaly right middle cerebral artery
Peer pressure 306, 306f Pure tone audiometry 407, 407f
territory 72f
Pelvic neuroblastoma 217f Purpura fulminans 61, 203, 203f
Postenucleation syndrome 220, 220f
Pelvi-ureteric junction obstruction 443, Pursed lip appearance 297f
Posterior urethral valves 173, 173f
443f Pustules 9f
Postextubation collapse 20, 20f
Pyopneumothorax 123
Penetrating injury 394, 394f Post-kala-azar dermal leishmaniasis 63
Perianal excoriation 156 Poverty line 36
Perinatal insult 468, 468f Prader-Willi syndrome 256, 256f, 262, Q
Periocular capillary hemangioma 389, 262f Quantitative fluorescence polymerase
389f Pranayama 332, 332f chain reaction 262
Peripheral Preauricular sinus 414, 414f Quinine 196
blood smear 187, 187f Precocious puberty 242
pseudoprecocious puberty 252 Prepubertal
Peripherally inserted central catheters
R
axillary hair 303f
224, 224f breasts Rabies 57
Periventricular and axillary hair 303 immunoglobulin 57
leukomalacia 21 girls 303, 303f Rachitic rosary 39, 39f
nodular heterotopia 83, 83f facial hair 304f Radial nerve palsy 86
Persistent genitalia 303f Radiological changes of scurvy 39
anemia in celiac disease 203, 203f boys 303f Ramsay Hunt syndrome 361
hyperinsulinemic hypoglycemia of girls 303f Ranula 430
newborn 254 Preseptal cellulitis 394, 394f Rat bite 339f
Perthes’ disease 481, 481f Prevention of kwashiorkor 42 in an abandoned newborn 339, 339f
Peutz-Jeghers syndrome 166, 312, 312f, Primary complex 126, 126f Rectal polyp 440, 440f
378, 378f Progressive familial intrahepatic Rectovestibular fistula 440, 440f
490 Recurrent bacterial meningitis 63
Phimosis 428, 428f cholestasis 151
Reflux esophagitis 156 Scaphoid abdomen 436f Splenectomy in thalassemia child 192,
Removed tattoo 323 Scapular Ewing’s sarcoma 212f 192f
Renal Scarlet fever 52, 52f Spondyloepiphyseal dysplasia 271, 271f
anamolies 421 Schizencephaly 84, 84f Spondylolisthesis 456
osteodystrophy 174 School Stadiometer 243f
tubular acidosis 170, 170f, 173, 173f, counseling 334, 334f Staphylococcal
242, 242f health check-up pneumonia 128, 128f
Respiratory dental examination 336, 336f scalded skin syndrome 62, 62f
distress 127 ENT examination 336, 336f Staphylococcus aureus 9, 62, 122, 311
in neonate 127f Scleral icterus 157, 157f Steeple sign 119f
syndrome 127 Scrofuloderma 52 Stem cell transplantation in thalassemia
syncytial virus 122 Scurvy 481, 481f 192, 192f
Reticulocyte count 196, 196f Seborrheic dermatitis 9, 9f, 364, 364f Stenosed renal artery on CT angiography
Reticulocytopenia 205 Seckel syndrome 267, 267f 178f
Retinitis pigmentosa 390, 390f Sectoral heterochromia 317, 317f Steroid resistant nephrotic syndrome 171
Retinoblastoma 219, 220f, 390, 390f Self-inflicted wounds 308, 308f Stevens-Johnson syndrome 63, 63f
on CT scan 218, 218f Strawberry tongue 52f
Septal
with orbital implant 219, 219f Stress management 332, 332f
hematoma 419
Retinopathy of prematurity 22, 390, 390f Stretched penile length 243, 243f
occluder 111
Retropharyngeal abscess 127, 127f, 419, Stridor 420f
Septic arthritis 53
419f Sturge-Weber syndrome 78, 78f, 378,
in multiple joints 53f
Rett syndrome 77, 77f 378f, 398, 398f
Sequelae of acne 326, 326f
Rhabdomyoma in LV 108 Subarachnoid hemorrhage 89, 89f
Serous otitis media 405 Subconjunctival hemorrhages 444f
Rhabdomyosarcoma 221f, 222
Serum ascites albumin gradient 158 Subcortical heterotopia 83f
of chest wall 220
Severe Subcutaneous nodules of anaplastic large
of left parotid region 221, 221f
abuse 340, 340f cell lymphoma 227, 227f
Index
of middle ear 221
bowing of legs 176, 176f Subsection orthopedic 328
of right cheek in infant with
deformities of lower limbs 173, 173f Superficial abscess 311, 311f
microcephaly 228f
herpes zoster skin lesion 55f Supracondylar fracture humerus 457
Rheumatic fever 96
perianal excoriation 156f Swyer-James-Macleod syndrome 140,
Rickets 39, 481, 481f
Sexual 140f
Rickettsial disease over face 60f
abuse 341 Syringingear 403f
Right
maturity rating 303 Systemic
adrenal neuroblastoma 216f
empyema 122f SHOX gene defect 256, 256f lupus erythematosus 374, 374f
low motor neuron facial palsy 69f Sigmoid colon 153 onset juvenile idiopathic arthritis 295,
middle lobe collapse consolidation Sign of allergic rhinitis 291 295f
129 Silver beaten appearance 89, 89f sclerosis 375, 375f
-sided closed pneumothorax in Simple
neonate 137f front tooth fracture 314, 314f T
ventricular outflow tract 108 obesity 241f
Tanner’s staging 303
Ring enhancing lesion 78, 78f Skeletal dysplasia 243, 243f, 269
Tattoo initials 322, 322f
Ritonavir 363 Skin
Technique of administration of intranasal
Rubella 57 peeling 5, 5f
steroids in
Rubinstein-Taybi syndrome 263, 263f tags 5, 5f adolescent 293, 293f
Russell-Silver syndrome 256, 256f, 267, Sliding hernia 142 small child 292, 292f
267f Slipped capital femoral epiphysis 458f Teenage girl with Turner syndrome 114,
Small vessel vasculitis 310, 310f 114f
Solid tumors of childhood 444
S Tension pneumothorax 139, 139f, 474,
Solitary 474f
Sacrococcygeal teratoma 223, 445, 445f bone cyst 456, 456f Testicular torsion 443, 443f
Salt wasting crisis 253 rectal ulcer 158, 158f Tetralogy of Fallot 95, 100, 100f, 108f
Sarcoma of bone 456, 456f Sotos syndrome 267, 267f Thalassemia 187-192, 482, 482f
Scabies 59, 364, 364f Spider’s web 35 child 186
Scalloped duodenal mucosa 157, 157f Spina bifida intermedia 185, 185f
Scalp hematoma in neonatal cholestasis cystica 68, 68f major 185, 185f 491
syndrome 164 occulta 68 with growth retardation 186, 186f
Thalassemic child 184, 186, 186f U Villous atrophy
Thelarche 244 duodenal mucosa 159f
Therapeutic endoscopic retrograde Ulcerative colitis 158 in celiac disease 159
cholangiopancreatography 163 Umbilical Viral
Thyroglossal cyst 253, 253f, 476, 476f granuloma 9, 9f conjunctivitis 391, 391f
Thyroid 414 hernia 428 infections 53
carcinoma inadolescent female 229, polyp 428, 428f myocarditis 109
229f Uncal transtentorial herniation 89 Vitamin
function tests 237 Undescended testis 10, 10f, 429, 429f A deficiency 39, 39f, 40, 40f, 318, 318f
Tibia vara 452 Untreated congenital hypothyroidism D
Tinea 239f deficiency 39
capitis 364, 364f Upgaze palsy 72 resistant rickets 244, 244f
cruris 375, 375f Upper K deficiency 198, 198f
Tongue gastrointestinal endoscopy 157 Vitiligo 376, 376f
and lip pigmentation 233f gastrointestional 165 Vocal nodules 408, 408f
tie 415, 415f lateral incisor 314f
Tonic seizure 76, 76f respiratory tract infection 401
Tonsillar Ureterocele 444
W
enlargement 287, 287f Urinary Waardenburg syndrome 280, 280f
lymphoma 228, 228f calculi 441f Warts in HIV infection 55f
Tonsillectomy 407, 407f
tract infection 170 Webbing of neck 257f

Tooth jewelry 314 Urolithiasis 441f Wenckebach phenomenon 103, 103f
Torticollis 430
Urticaria 365, 365f Whirlpool sign 154f
Total anomalous pulmonary venous
Williams syndrome 264, 264f
return 474, 474f
Toxic epidermal necrolysis 378, 378f V Wilms’ tumor 224, 224f, 264, 267, 445
Tracheoesophageal fistula 20, 20f, 134, Wilson’s disease 86, 86f
Vactral syndrome 421, 421f Wiscott-Aldrich syndrome 208, 208f
421, 432 Vaginal
Tracheotomy 420, 420f Wolf-Hirschhorn syndrome 264, 264f
botryroid 222 Wolf-Parkinson-White syndrome 103,
Tram-track sign 78
rhabdomyosarcoma 222f 103f
Trauma to front tooth 314, 314f
discharge 5, 5f Wolman’s syndrome 166
Tricuspid atresia 103, 103f
Valley sign of DMD 73, 73f
Tuberculoma 469, 469f
Variceal bleeding 165
of right lung 129, 129f
Vascular ring 474, 474f
X
Tuberculosis
ankle 482, 482f Vegetation on aortic valve 109, 109f Xanthoma tuberosum right knee 309,
bilateral paratracheal Vein of Galen malformation 87 309f
lymphadenopathy 130f Velocardiofacial syndrome 263, 263f Xeroderma pigmentosum 92, 92f, 376,
hilar lymphadenopathy 130f Ventricular septal defect 115 376f
right middle lobe collapse Vernal keratoconjunctivitis 386, 386f Xerophthalmia 318
consolidation 129f Verner-Morrison syndrome 166 X-linked anhidrotic ectodermal dysplasia
verrucosacutis 375, 375f Vernix caseosa 6, 6f 280, 280f
Tuberculous dactylitis 330, 330f, 482, 482f Verruca vulgaris 365, 365f X-ray scoliosis Cobb’s angle 330, 330f
Tuberous sclerosis 79, 79f, 82, 280, 280f, Vertebral anamolies 421
376, 376f, 470, 470f Vesicoureteric reflux 444, 444f Z
Turner syndrome 257, 257f, 263, 263f Video-assisted thoracoscopic surgery
Typical purpuric rash of HSP 295 122, 139 Zidovudine 363
492

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IAP

A Publication of Indian Academy of Pediatrics

Chief Academic Editor Executive Editors Deepak Ugra

JAYPEE BROTHERS MEDICAL PUBLISHERS (P) LTD

Jaypee Brothers Medical Publishers (P) Ltd.

© 2012, Authors and Publishers

Inquiries for bulk sales may be solicited at: jaypee@jaypeebrothers.com

IAP Color Atlas of Pediatrics (A Publication of Indian Academy of Pediatrics)

First Edition: 2012

SECTION 5: NEUROLOGY A Riyaz

SECTION 15: ADOLESCENT HEALTH S Meenakshi

New Delhi, India R Srikanth

SECTION 16: CHILD ABUSE, NEGLECT AND SECTION 19: OTORHINOLARYNGOLOGY

SECTION 17: DERMATOLOGY SECTION 20: PEDIATRIC SURGERY

SECTION 21: ORTHOPEDICS Bhavin Jankharia

Rohit Agrawal Nitin K Shah, Vijay N Yewale

1.1 Normal Newborn...............................................................................................................................................3

Section 2: Growth and Development

2.1 Physical Growth Stages During First-Five Years of Life.................................................................................27

3.1 Malnutrition Burden.........................................................................................................................................35

Section 4: Infectious Diseases

4.1 Common Conditions.......................................................................................................................................51

5.1 Common Conditions.......................................................................................................................................67

6.1 History and Clinical Examination....................................................................................................................95

6.4 Syndromes.................................................................................................................................................... 114

7.1 Common Conditions..................................................................................................................................... 119

Section 8: Gastrointestinal System and Hepatology

8.1 Common Conditions.....................................................................................................................................147

9.1 Common Conditions.....................................................................................................................................169

10.1 Common Conditions.....................................................................................................................................183

Section 11: Oncology

11.1 Common Conditions..................................................................................................................................... 211

Section 12: Endocrinology

12.1 Common Conditions.....................................................................................................................................233

Section 13: Genetics

13.1 Chromosomal Disorders...............................................................................................................................261

Section 14: Allergy, Rheumatology

14.1 Common Allergic Conditions.........................................................................................................................283

Section 15: Adolescent Health and Medicine

15.1 Growing Up Issues.......................................................................................................................................303

Section 16: Child Abuse, Neglect and Child Labor

16.1 Child Abuse and Neglect..............................................................................................................................339

Section 17: Dermatology

17.1 Common Conditions.....................................................................................................................................359

Section 18: Ophthalmology

18.1 Common Conditions.....................................................................................................................................381

Section 19: Otorhinolaryngology

19.1 Common Conditions.....................................................................................................................................401

20.1 Common External Conditions.......................................................................................................................425

Section 21: Orthopedics

21.1 Common Conditions.....................................................................................................................................449

1.1 Normal Newborn

Figure 1.1.1: Acrocyanosis

Capillary Refill Time

Figure 1.1.4: Caput succedaneum

Note the mouthing-getting hands, • A healthy infant should be given

Figure 1.1.7: Skin peeling

Figure 1.1.8: Skin tags

Figure 1.1.9: Vaginal discharge 5

1.2 COMMON NEONATAL CONDITIONS

There is a firm, scalp swelling with • In majority, the management

Figure 1.2.1: Cephalhematoma

Infant of Diabetic Mother