BAI JERBAI WADIA HOSPITAL FOR CHILDREN

PEDIATRIC CLINICS FOR POST GRADUATES

PREFACE
This book is a compilation of the discussions carried out at the course for post-graduates on Clinical Practical Pediatrics at the Bai Jerbai Wadia Hospital for Children, Mumbai. It has been prepared by the teaching faculty of the course and will be a ready-reckoner for the exam-going participants. This manual covers the most commonly asked cases in Pediatric Practical examinations in our country and we hope that it will help the students in their practical examinations. An appropriately taken history, properly elicited clinical signs, logical diagnosis with the differential diagnosis and sound management principles definitely give the examiner the feeling that the candidate is fit to be a consultant of tomorrow. Wishing you all the very best for your forthcoming examinations.

Dr.N.C.Joshi Dr.S.S.Prabhu Program Directors.

FOREWARD

I am very happy to say that the hospital has taken an initiative to organize this CME for the postgraduate students. The hospital is completing 75 years of its existence and has 2

done marvelous work in providing excellent sevices to the children belonging to the poor society of Mumbai and the country. The hospital gets cases referred from all over the country and I am proud to say that the referrals has stood the confidence imposed on the hospital and its faculty. We do get even the rarest of the rare cases which get diagnosed and treated. I am sure all of you will be immensely benefited by this programme. Wish you all the best in your examination and career.

Brig (Retd.) . Dr. K.B.N.S.Dod Chief Senior Executive Wadia Group of Hospitals

TIPS FOR CANDIDATES Ten Commandments

1. Dress appropriately as a future consultant. Always wear a neatly washed and ironed apron. Sit straight and mind your body language, especially your speech and hand movements i.e. practice speaking before appearing for exams. 2. Always be able to summarize, encapsulate the essence and emphasize the major issues without losing too much detail. Hence practice case presentations. Mental rehearsal of the case helps in fluent presentation and makes you appear confident. 3. Wish the examiner/s when you enter and thank them when you leave.

4. Present the case boldly, confidently and clearly with an attitude of a future consultant and not a resident (poor speech affects your viva performance). 5. Maintain eye contact with the examiner/s when answering questions 6. When asked to demonstrate clinical signs, give a brief description of what you want to show the examiners. Always be brief and factual and avoid jargon, slang, abbreviations and meaning-less expressions. 7. Never antagonize or argue with the examiners .You will always lose. Remember that the examiner is the judge, jury and the final word. 8. Be clear in what you want to tell. Avoid statement like slightly pale, not looking good, maybe edematous.. 9. Always have your own equipment set which includes- pens, paper, growth charts, stethoscope, fundoscope, otoscope, measuring tape, cotton, knee hammer, tuning fork, pins, torch with batteries, Colorful toys, disposable spatulas, hand held eye charts (if available). 10. Always appear for the examination with a positive attitude. It helps.

List of contributors
Anaita Hegde. Archana.Limaye Ira Shah. K.N. Shah. Kumud.P.Mehta. Meena. P.Desai. M. P. Colaco. N.C. Joshi. Parmananad.A. Priti Mehta. Rajesh Joshi. Ruchira Pahare. Shakuntala Prabhu. Shilpa Kamat. Sudha Rao. Sumitra Venkatesh. Uma.S.Ali. Vrajesh Udani.

INDEX

1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25.

Tuberculous Meningitis Cerebral Palsy Acute infantile hemiplegia Ataxia Duchennes muscular dystrophy Floppy Infant Chorea Hydrocephalus Meningomyelocoele Paraplegia Guillian Barre Syndrome Neuroregression Congenital Heart Diseases Rheumatic Heart Disease PEM Rickets Short stature Ambigious Genetalia Bronchiectasis Hepatosplenomegaly with anaemia Hepatosplenomegaly with jaundice with PHT Cholestatic syndrome of infancy Rheumatoid Arthritis Nephrotic Syndrome Newborn

6 9 12 17 20 22 25 28 31 34 39 42 48 56 65 70 73 78 81 84 89 91 94 97 99

TUBERCULOUS MENINGITIS
Name Age Sex Address Consanguinity Handedness

Chief Complains Fever - mild, moderate, low grade with evening rise. Convulsions :focal / generalised seizures (usually not along with onset of fever ,late in the course of fever) Altered sensorium :- onset - sudden / insiduous. Lethargy Vomiting Focal neurological deficit Hemiplegia / monoplegia / cranial neuropathies. Origin/Duration/Progress Chief complains in details. Narrative history :H/o. Abnormality of higher functions - Lethargy , altered sensorium Convulsions Cranial nerve palsies - deviation of angle of mouth, drooling of saliva, squinting, diplopia. Focal neurological deficits ( hemiplegia /monoplegia). Abnormal / involuntary movements tremors / chorea / hemiballismus H/s/o increased intracranial pressure i.e. vomiting / headache / blurring of vision. H/s/o meningeal inflammation i.e.neck pain, photophobia, restriction of neck movement. H/o bowel, bladder complaints . History for etiology :H/o. head injury ( may precipitate TBM) H/o. otorrhoea - (pyogenic meningitis ) H/o. any treatment taken outside in f/o intramuscular / intravenous injections (Partially treated pyogenic meningitis) H/o. vaccines / drugs / sera ( Acute disseminated encephalomyelitis) H/o. rash, fever, altered sensorium, convulsions ( Viral encephalitis) H/o. fever with rash (measles) H/o. whooping cough. H/o. contact with tuberculosis. H/o. diarrhoea, fever, chronic cough (HIV) H/o. immunosuppressive drug intake. Immunisation history BCG , Measles. History for complications :H/o bed sores, contractures, skin changes, bladder, bowel complications. (constipation/ urinary infection ) 7

H/o. seizures. H/o. decorticate / decerebrate posturing. Drug history, procedure history. H/o. any surgery, VP shunt / reservoir Family history - of kochs Nutritional history - malnutrition may precipitate Tuberculous meningitis. Birth History :Developmental history. Socio economic history - Overcrowding , sanitation. Examination :General examination :1] Decubitus 2] Vitals Temperature ,Pulse , Respiration , Blood pressure. 3] Anthropometry with interpretation. 4] Pallor, cyanosis, clubbing, icterus, lymphadenopathy, edema feet, 5] Stigmata of tubercolosis Phlycten ,Scrofuloderma ,Sinuses, erythema nodosum 6] Anterior fontanelle 7] Size & heaviness of head 8] crack pot sign 9] BCG scar - present / absent. 10] Neurocutaneous markers 11] Dysmorphic features 12] Presence or absence of IV line, Ryles tube 13] Skull, spine, scars 14] Skin - bedsores 15] Contractures 16] Signs of malnutrition & vitamin deficiency 17] Presence / absence & patency of VP shunt CNS :Higher functions - state of conciousness Gag reflex Eye movements Pupillary reflexes Corneal / conjunctival reflexes Motor system examination Sensory system Cerebellar signs Meningeal signs Hydrocephalus : Heavy head, crackpot or sutural seperation - Signs of increased intracranial pressure. Involuntary movements Fundus - papilloedema / choroid tubercules / optic atrophy. 8

Diagnosis :---years old M/F child with chronic meningoencephalitis with / without hemi / monoparesis with / without cranial nerve palsy with / without involuntary movement with / without signs of increased intracranial pressure. Probable etiology being TBM. Investigations :Specific for diagnosis of tuberculous meningitis 1] CSF examination (after fundus examination} CSF for PCR , Tubercular antigen & ADA levels , Tubercular stearic acid and Bromide partition test. 2] Neuroimaging - CT scan with contrast (in c/o increased intracranial pressure CT should be done prior to lumbar puncture & LP should be guarded /LP under cover of mannitol). 3] MT 4] X ray chest 5] Gastric lavage for Acid fast bacillus. 6] CBC - with lymphocytosis & ESR 7] HIV 8] Liver function tests ( prior to treatment & for treatment monitoring} 9] Renal function test 10] Eletrolyte - baseline as well as monitoring to rule out SIADH Commonly asked questions : 1] Discussion of differential diagnosis 2] Stages of coma 3] Stages of TBM & prognosis in each stage. 4] Signs of meningeal irritation. 5] Signs of increased intracranial pressure 6] Types of herniation 7] Management of TBM - supportive + definitive 8] Types of shunt & complications of shunt 9] Complication of TBM 10] Pathology in TBM & lesion localization 11] CT correlates in TBM 12] Precipitating factors in TBM 13] Poor prognostic factors in TBM 14] Role of steroids 15] Newer modalities of diagnosis of TBM

CEREBRAL PALSY
Name Age Sex Handedness Consanguinity

Chief complaints: O.D.P. Convulsions - Generalised tonic clonic / myoclonic / focal Infantile spasms. Detailed birth history. Antenatal period - maternal drugs, Xrays, illnesses-like rash , PIH ,DM , fall Milestone History Gross motor , fine adaptive ,social , language (with rough DQ to each category). Hand preference. Scissoring (difficulty in putting diaper). Floppiness of body . Power in limbs. Impairment of vision, hearing. Squinting, CN palsies. Swallowing difficulties. Involuntary movement - Dystonia, tremors, chorea, dyskinesia. - limb dyskinesia , oromotor dyskinesia , jark in the box tongue. Mannerisms, stereotypies. Bladder, bowel involvement. delayed milestones, convulsions.

For etiology :Birth details :Antenatal Infections, twins , trauma,drugs Neonatal sepsis, kernicterus Meconium, asphyxia, hypoglycemia.,NICU stay Post meningitis / trauma. Family history :Any neurological illness / convulsion in any sibling / family any sibling deaths, any CPs in family. H/O Complication :Convulsions Feeding difficulty /constipation recurrent LRTI 10

contractures, bed sores behavioral problems, injuries, falls. H/O Treatment :Immunisation :- ?? DPT Diet History Examination : Vitals Anthropometry with interpretation General- pallor Cataract, strabismus, Skull - Overriding of sutures. Shape of skull Anterior Fontanelle Dysmorphism Neurocutaneous markers Eyes - cataract Dentition Evidence of. malnutrition , bed sores, contractures - static/ dynamic CNS : Higher Functions Cranial nerves Tone power reflexes afferent spread. (Knee Jerk on tapping thigh)

Exaggeration of reflexes:

efferent spill over (crossed adductor on knee jerk) Development :- supine, prone, pull to sit, Ventral suspension ,axillary suspension Neonatal reflexes Hearing Vision Fundus examination choreoretinitis / optic atrophy / retinitis pigmentosa

Other systems (organomegaly/ murmurs) Diagnosis -------------year old M/F with static encephalopathy with motor deficit (spastic / hypotonic / mono-di-tri-tetra-para plegia / double hemiplegia) with functional grade----------with convulsion with squint, hearing deficit with IQ / DQ (mental / motor age) with PEM / LRTI/ contractures , with probable etiology ---------11

Commonly asked questions :1] Early markers of CP 2] Functional grades of CP 3] Neonatal reflexes 4] Audiometry 5] MRI correlates in CP 6] Development - gross motor, fine motor, speech ,social 7] Drugs & Surgical procedure to reduce spasticity 8] Associated problems :MR - 50-75% Sp. Quadriplegic Seizures - 25-30% Spastic Quadriplegic C.P. (90%) Spastic Hemiplegic C.P. (30%) Least in dystonic C.P. Hearing & Speech problems-15-20%. in dystonic and spastic C.P. Ocular problem 50-70% Behaviour problem 30-50%

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ACUTE INFANTILE HEMIPLEGIA

Name Age Sex Address Consanguinity Handedness CHIEF COMPLAINTS: paucity of movements of right/left side of the body. convulsions ODP-Congenital / acquired Onset-Catastrophic/acute/sub acute/chronic/static/episodic Progressive/ static/ improving Involving the upper limb preferentially/equally Detailed H/O CNS involvement H/O Complications Bed sores/shortening of limbs/contractures /trophic ulcers ETIOLOGICAL HISTORY H/o Trauma-Head injury/Oral cavity injury Fracture( Fat embolism) H/O pallor H/O pain in hand/foot/ abdomen (sickle cell crisis) H/O bleeding from any site/petechae/purpura/ hematemesis / malena H/O Fever/ bone pain /weight loss (leukemia) H/O diarrhea/ vomiting oliguria/ hematuria (HUS) or, h/s/o nephrotic syndrome Cardiac causes H/o fever with chills/ petechiae/hematuria (Infective Endocarditis) H/O cyanosis /cyanotic spell (Cyanotic heart disease) (abscess/ Thrombosis ) H/O fever with joint pain/sore throat (Rheumatic) H/O Cardiac surgery (Prosthetic heart valve) H/s/o Hypertension-Headache/ Vomiting/Visual Disturbance Collagen Vascular Disease H/o fever with rash with joint pain (SLE) H/O Claudication (Takayasus) Hematological causes H/O weakness, proximal/distal H/O sensory involvement H/O Cranial nerve involvement H/O involuntary movements H/O bladder / Bowel involvement H/O speech abnormality H/O gait abnormality

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Infectious Causes H/O sore throat (Pharyngeal abscess) H/O Kochs/Kochs contact H/O Viral exanthems (HSV Encephalitis/ mumps/chicken pox) H/O Otorrhoea (brain abscess) H/O Vaccination/ sera (Demyelination) DehydrationH/O Acute Gastroenteritis followed by seizures/ coma (sagittal sinus thrombosis ) H/O recurrent attacks of TIA /hemi paresis (Migraine/Moya-Moya/alternating hemiplegia) H/O post seizure transient paralysis (Todds paralysis) FAMILY HISTORY H/O similar attacks in the family (Sickle cell/ homocystinurea/Hyperlipidaemia) BIRTH HISTORY Preterm-Subependymal Hemorrhage-Intraventricular hemorrhage Full-term- Breech/ Traumatic delivery/Birth Asphyxia H/O Umbilical sepsis / Catheterization (Embolism) H/o Rash/ fever/ petechae/jaundice (IU infection) EXAMINATION: General Examination-Routine examination plus look for dysmorphic features CNS Higher Functions- Speech (dysphasia seen in involvement of dominant hemisphere) Intellectual impairment (Meningitis, Encephalitis, Homocystinurea) Gait (older child)/Gross motor assessment (infant) Cranial nerve examination (3,4,6 ,7th & gag reflex) Motor examination -Tone/Power/Reflexes Abdominal Reflexes & Plantars Visual fields for field defects& partial visual neglect (A field defect infers a lesion at or above the internal capsule) Higher Centers-Test for dysphasia/ Agraphia/ astereognosis/ two point discrimination, tactile localisation (these occur when the dominant side is involved) CVS Examination SPINE 14 Carotid pulses should be palpated as well as auscultated(Moya Moya,Takayasu) Anterior Fontanelle Head Circumference US/LS & Length (homocystinurea) Pallor/Cyanosis/Clubbing Xanthomas Petechiae/Purpura/ Joint bleed/ Rash Eyes-Ectopia lentis Neurocutaneous Stigmata Skull-Trauma/Crack pot/Bruit over the skull.

Table 1. Differential Diagnosis of Acute Focal Neurological Deficit Focal cerebral ischemia Intracranial hemorrhage Cerebral abscess Encephalitis (herpes simplex virus) Brain tumor Alternating hemiplegia of infancy Multiple sclerosis Malingering/conversion disorder Epilepsy: post-ictal Todd's paralysis or a focal inhibitory seizure Complicated migraine
Table 2. Diagnostic Evaluation in a Child with Cerebrovascular Disease FIRST LINE: Performed within first 48 hours of admission SECOND LINE: Performed within first week as indicated THIRD LINE: Performed electively as indicated

CT scan of brain MRI of brain Complete blood count PT/PTT Phosphorus, glucose Liver function test Chest x-ray ,MT ESR ANA Urinalysis BUN, creatinine Urine drug screen 12-lead EKG

Echocardiogram Transcranial and/or carotid dopplers MR angiogram EEG Hypercoaguable evaluation Protein C (activity and antigen) Factor V (leiden) mutation Antiphospholipid antibody Anticardiolipin Lupus-anticoagulant - RA factor Serum amino acids Urine for organic acids Blood culture Hemoglobin electrophoresis Complement profile VDRL Lactate /pyruvate Ammonia CSF: cell count, protein, glucose, lactate Lipid profile

HIV Lyme titers Mycoplasma titers Cardiac MRI Echocardiogram (transesophageal) Muscle Biopsy DNA testing for MELAS Cerebral angiogram (transfemoral) Leptomeningeal biopsy Serum homocystine after methionine load

Electrolytes, Ca, Mg, Antithrombin III

LOCALIZATION OF THE LESION IN CASE OF ACUTE INFANTILE HEMIPLEGIA 15

A) If the cranial nerve palsy is on the same side as that of hemiplegia then the lesion is above the level of brain stem-Ipsilateral hemiplegia B) If the cranial nerve palsy is on the side opposite to that of hemiplegia then the lesion is at or below the brain stem.-Contralateral hemiplegia IPSILATERAL HEMIPLEGIA The lesion is either in the cortex , internal capsule or sub cortical region A) Cortical lesion Hemi paresis-Mild involvement & not dense hemiplegia Differential involvement (Upper limbs more than lower or lower limbs more than upper) Altered sensorium may be present Convulsions may be present Cortical sensory loss may be present Astereognosis Aphasia (if the dominant cortex is affected0 Involvement of the frontal lobe Altered behavior/personality Upper limb affected more than lower limb Motor aphasia Convulsions Bladder/ bowel involvement Persistent neonatal reflexes on the opposite side Involvement of the parietal lobe Cortical sensory loss Astereognosis Involvement of the Temporal lobe Temporal lobe epilepsy Sensory aphasia Memory loss Involvement of occipital lobe Homonymous hemianopia B) Internal capsule lesion Dense Hemiplegia Hemianaesthesia Homonymous hemianopia Dysarthria C) Subcortical lesion(Corona Radiata) Same as cortical lesion but features such as convulsions & loss of cortical sensation are absent

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CONTRALATERAL HEMIPLEGIA- Lesion at or below the level of brain stem A) Lesion in Midbrain WEBER SYNDROME- 3rd nerve palsy plus crossed Hemiplegia BENEDICTS SYNDROME-3rd nerve palsy + crossed hemiplegia +Red nucleus affection (Tremor, rigidity, ataxia on the opposite side) BLesion in Pons MILLARD GUBLER SYNDROME-7th nerve palsy +Crossed hemiplegia FOVILLE SYNDROME-6th nerve palsy + 7th nerve palsy + contra lateral Hemiplegia B) Lesion in Medulla JACKSON SYNDROME-12th nerve palsy + crossed hemiplegia.

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ATAXIA
Name Swaying gait Inability to walk Hand movements, Involuntary movements (tremors) Unsteadiness in reaching out for objects Abnormal eye movements (opsoclonus / nystagmus) Speech problems - dysarthria ODP OF CHIEF COMPLAINTS H/O CNS SYMPTOMATOLOGY Higher function impairment ( speech , memory, emotional lability, scholastic backwardness) Regression in milestones Cranial nerve palsies - eye / face deviation. Motor deficits Sensorydifficulty in vision/ feeling ground/ bladder/ bowel complaints Headache, vomiting, convulsions, unconsciousness, altered sensorium (increased ICT) Gait abnormalities High steppage gait / walking in cloud. ETIOLOGICAL HISTORY h/o fever with exanthem( cerebellitis---chicken pox, enteroviruses, coxsackie,influenza) h/o drugs(piperazine citrate, anticonvulsants,streptomycin) h/o early morning headache, vomiting, / behavioural changes/ convulsions/ unconsciousness/ altered sensorium(tumor) h/o trauma h/o otorrhoea/ tinnitus(vestibulitis) h/o tingling numbness/paraesthesia/anaesthesia(peripheral neuropathy) h/o kochs contact (tuberculoma) h/o similar complaints in family(hereditary) h/o mental retardation / regression of milestones( sphingolipidoses/ Marinesco Sjogren syndrome) h/o birth asphyxia (ataxic cerebral palsy) h/o diarrhea/ fat malabsorption (abetalipoproteinemia, vitamin E deficiency) h/o visual impairment (Refsums) h/s/o liver disease (Wilsons) h/o repeated episodes(epilepsy/ Basilar artery migraine) h/o telengectasia(ataxia telengectasia) h/o extrapyramidal abnormalities, breathing abnormalities , ptosis (mitochondrial 18 Age Sex Handedness Consanguinity

Chief Complaints

abnormalities) h/o constipation /lethargy/ MR(hypothyroidism) h/o photosensitivity reactions/abdominal pain/psychosis/ urine colour change on standing (porphyrias) h/o increasing head circumference (hyrocephalus) BIRTH HISTORY , DIETARY HISTORY , DEVELOPMENTAL HISTORY IMMUNIZATION HISTORY & SOCIOECONOMIC HISTORY ON EXAMINATION GENERAL Anthropometry with interpretation Neurocutaneous markers- telangiectasia, hemangiomas Von Hippel Landau Skeletal-pes cavus, scoliosis (Fredrichs ataxia) Telengectasia CNS EXAMINATION Higher Functions Speech stacatto/ hot potato/ dysarthria Cranial nerves Motor examination - Tone Power Reflexes (pendular , absent (Miller Fischer variant) , brisk) Sensory system Nystagmus / opsoclonus Cerebellar signs Upper limbs-Tone, Past pointing, Rebound test of Gordon holmes,Intention tremor, Postural holding test. Lower limbs-Gait, Tandem walking, Rhombergs test, Pendular knee jerk, Knee heel test, Toe to finger test. Dysdiadokinesia FUNDUS EXAMINATION-Retinitis pigmentosa, Papillodema, optic atrophy OTHER SYSTEM EXAMINATION Hepatosplenomegaly-Wilsons Cardiac-Cardiomyopathy DIAGNOSIS------------ . Yr old R/L handed M/F child with acute/chronic/ progressive/ nonprogressive/recovering/ bilateral/ R/L sided truncal/ axial ataxia with/ without anyother CNS deficits (motor/ sensory/ with/ without raised ICT) with/ without malnutrition/ trophic changes probable etiology being -----

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INVESTIGATIONS Diagnosis is mainly clinical Routine investigations + Imaging studies, MRI Vitamin E levels Nerve conduction All investigations to rule out Neuroblastoma should be carried out (urinary VMA level, MIBG scan , CT chest , abdomen etc.) CAUSES OF ATAXIA ( better visualization of posterior fossa and the cerebellum)

Acute
Idiopathic-acute cerebellar ataxia Metabolic---hypoglycemia, hyponatremia, hyperammonemia Infection-bacterial and viral meningitis, brain stem encephalitis Toxins Hydrocephalus Cerebellar lesion-SOL, tumor, infarct Neuroblastoma Polyradiculopathyguillan barre, tick paralysis Labyrinthitis Brain stem SOL

Episodic
Epilepsy---postictal Toxins Metabolic Basilar artery migraine

Chronic
Fixed deficit------CP, Malformations Degenerative------Friedrichs ataxia, Charcot marie tooth, Levy roussy Inherited------Wilsons, ataxia telengectasia, sphingolipidosis. Acquired diseases---hypothyroidism, neoplasia, drugs

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DUCHENNE MUSCULAR DYSTROPHY

Name Age Sex Handedness Consanguinity Difficulty in getting up from squatting position, climbing stair. Frequent falls, tripping while walking. Toe walking. Abnormal gait - waddling gait lordotic posture. Swelling in calf region. Onset, duration, progression of weakness. Onset early - 2-4 years. Progressive weakness - Symmetrical proximal muscle weakness. Development of contractures / kypho scoliosis . Associated complaints. For etiology :H/O. similar complaints. or complication in sib or family. (maternal uncle or maternal aunts children.) H/O. constipation, lethargy, neck swelling, delayed milestones, (R/o. hypothyroidism). H/O. drug ingestion (anabolic steroids). H/O. rash ,photosensitivity, (polymyositis) H/O. cramps, exercise intolerance (Mc ardle) Upper limb weakness. Pain.

Chief Complaints -

History for complications :H/o. repeated lower respiratory infections/ feeding difficulties, seizures, contractures, deformities, cardiac involvement. Family history of :similar complaints. in sibs. Death in sibs Maternal aunts children. Mother c/o. weakness, calf pain, calf hypertrophy.

Birth history :Developmental history- H/o milestone (motor milestones may be delayed).

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Examination : Gowers sign. Waddling gait. Toe walking. Supine position to sitting position. Detail muscle charting. Note of hypertrophied muscles - Gastrocnemius , Deltoid ,Brachioradialis, soleus Tongue. DTR 1+ to absent Ankle jerk present till late. Diagnosis :Gradual onset slowly progressive (Insiduous) Weakness more proximal than distal with calf hypertrophy with onset at ------year with family history of DMD in Girls Turner/ mosaic Lyonisation. Manifest carrier Sarcoglyconaphy. Investigations 1] 2] 3] 4] CPK SGOT, aldolase, LDH EMG - low amplitude, polyphasic motor unit action potential. Muscle biopsy with Dystrophin staining. Genetic analysis most probably DMD.

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FLOPPY INFANT
Name Age sex Consanguinity Community Chief Complaints Weakness of all 4 limbs and limpness noticed since birth. Delayed motor and/ or mental milestones. Abnormal posturing / contractures/ arthrogyphosis ANTENATAL HISTORY- gravida/ para, registered ? H/o decreased fetal movements, fever with rash, irradiation, drug exposure (lithium/ phenytoin/ carbamazepine). , polyhydramnios / prolonged labour / LSCS PERINATAL HISTORY- breech presentation, h/o birth asphyxia, h/o limpness, feeding difficulties, breathlessness, convulsions in neonatal period., neonatal hyperbilirubinemia ELABORATION OF C/C. H/O unilateral/ bilateral weakness of limbs, symmetrical or asymmetrical, sudden onset/insidious,starting from lower limb and progressing upwards or vice versa. . Head holding achieved/ partial. H/O frog like posture H/O weak cry, h/o feeding difficulties H/O repeated cough/ cold/fever/ breathlessness H/O facial asymmetry, pooling of secretions,nasal regurgitation/nasal twang,dysphagia(involvement of bulbar muscles) H/O sensory disturbances. H/O wasting of muscles, H/O fasciculations / fibrillations. H/O bladder/ bowel disturbances H/O exaggerated startle (Taysachs) ETIOLOGY H/O Icterus, phototherapy, exchange transfusion (kernicterus) H/O constipation, prolonged neonatal jaundice (if MR, coarse facies for hypothyroidism) H/O cyanosis/ altered sensorium(respiratory muscle involvement) H/O mental development(hypotonic CP) H/O viral infection/ascending weakness(GBS) H/O recent vaccination /ring/ pulse polio H/O flushing/sweating/ palpitation/ postural hypotension/ arrhythmias (dysautonomia) H/O maternal myasthenia like illness H/O diurnal variation (mysthenia gravis) H/O lump in abdomen,early morning hypoglycaemic convulsions with breathlessness(GSD Pompes) 23 Residence

H/O prelacteal feeds like honey f/b bulbar weakness (botulism) H/O nonprogressive proximal muscle weakness-----congenital myopathies H/O involuntary movements------congenital cerebellar ataxia H/O obesity - Prader Willi H/O cataract/ MR- Lowes FAMILY HISTORY- h/o deaths in infancy in sibling MILESTONES - motor +mental DIET & IMMUNIZATION- last vaccine given (for GBS/ polio) EXAMINATION Decubitus- pithed frog position. HR----/RR------/ regular, abdominothoracic, no e/o resp. distress/BP-------ANTHROPOMETRY with interpretation Obesity,dysmorphic facies (Prader- Willi) Downy facies Trisomy 21/ Zellwegers syndrome Doll like faces GSD (Pompe) V shaped face- myotonic dystrophy Pallor, clubbing, cyanosis, icterus, lymphadenopathy, oedema feet Anterior fontanelle Cataracts(Lowe syndrome) ENT Skull/ spine/ genitalia(hypogonadism in prader willi) Conntractures ,CTEV, CDH CNS EXAMINATION Higher functions---conscious, alert looking,recognizes others. Cranial nerves Tongue fasciculations Ptosis with diurnal variation Fundus---(cherry red spot in GSD type II) Motor system- muscle wasting (SMA) muscle hypertrophy(pompe/ congenital muscular dystrophy) Hypotonia in all 4 limbs Involuntary movements- ataxia, fasciculation/ fibrillation Power--shoulder/ elbow/ distal/ hip/ knee/ distal Diaphragm/ intercostals Reflexes Superficial-------cremasteric/ gluteal/ paraspinal reflex Deep reflexes Sensory system P/A-----hepatomegaly----GSD CVS-----cardiomegaly,murmur, abnormal heart sounds(pompe) RS--------r/o LRTI Orthopedic examination 24

DIAGNOSIS--------month old child M/F gradually progressive/ static quadriparesis since birth ,decreased fetal movements ,no MR, no significant pre/ perinatal events, generalized hypotonia, areflexia, fasciculations. Most probable diagnosis INVESTIGATIONS Diagnosis mainly clinical EMG---denervation of muscle Biopsy-----to differentiate spinal muscular atrophy from other congenital myopathies CPK, nerve conduction, serum enzymes. MRI hypotonic C.P. / Congenital muscular dystrophy with MR

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CHOREA
Name Age Sex Handedness Consanguinity Community

Chief complaint & ODP Sudden onset involuntary movements involving---------- limbs Movements are repetitive/ non repetitive Rhythmic/nonrhythmic Migrating from one side to another Preset/ absent during sleep H/o proximal/ distal musculature being involved (sydenhams chorea is distal, minimal brain dysfunction and huntingtons chorea are proximal) H/o inability to feed, dress, walk (hypotonia associated) H/o emotional lability associated with it H/o involuntary movements involving the facial muscles Grimacing , oromotor dyskinesia H/o preceeding streptococcal infection occurring as early as 4 months prior(sydenhams chorea) H/o recurrences of choreic movements with intermittent normal periods(sydenhams/ SLE) H/o receiving any periodic injections or regular oral medications(penicillin prophylaxis) H/o facial rash/ alopecia/ oral ulcers(SLE) H/o ataxia/ psychosis/ seizures(SLE) H/o ingestion of drugs(phentoin, haloperidol, INH, reserpine, dextroamphetamine, methylphenidate) H/o language difficulties(speech becoming indistinct and at times completely absent) H/o any major operative intervention in the past(cardiopulmonary bypass surgery) H/o convulsions/ tetany associated with choreic movements(Fahr disease) H/o deteriorating school performance, jaundice(Wilsons) H/o clumsiness with frequent falls &delayed motor milestones(benign hereditary chorea) BIRTH HISTORY H/o perinatal asphyxia( if positive , choreic movements usually become apparent between 1st and 3rd yr of life) FAMILY HISTORY Family history of rheumatic fever can be elicited in 26% choreic patients. Sydenhams chorea is found in 3.5% parents and in 2.1% of siblings of choreic patients. Fahr disease is transmitted as AR or AD. DEVELOPMENT Recent onset regression if any. DIET , IMMUNIZATION & SOCIOECONOMIC HISTORY - AS USUAL. 26

Examination General Condition Vitals & Anthropometry with interpretation Type of involuntary movement-----proximal/ distal Exacerbated by tension/ stress Present at rest Repetitive/ rhythmic Voluntary/ involuntary Disappears/ persists in sleep Chameleon tongue--as soon as the tongue is protruded, it returns to the mouth. Pronator sign-------muscular hypotonia and weakness result in the palms turning outward when the patient holds the arms above the head. Choreic hand------hypotonia can be demonstrated when the arms are extended in front of the body. The wrist flexes and the metacarpophalangeal joints are overextended. Milkmaids grip------the child is unable to maintain muscular contraction and the grip waxes and wanes abruptly. CNS EXAMINATION--Higher functions Tone Power DTR----normal but patellar reflex is hung up. Plantars Other system examination. - CVS e/o carditis & PA organomegaly INVESTIGATIONS X- ray skull------bilateral calcifications in the region of the basal ganglia------Fahr disease MRI-----increase in size of caudate, putamen and globus pallidusin- sydenhams chorea Striatal hyperintensity on T2 weighted images indicating greater striatal damage. OPTHAL for KF- ring.

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CAUSES OF CHOREA Inherited Ataxia- telengectasia Benign hereditary chorea Hallervorden-spatz disease Hereditary spinocerebellar ataxia Huntington disease Inborn error of metabolism Glutaric academia Propionic academia Homocystinuria Pyruvate carboxylase deficiency PKU Sulfite oxidase deficiency Mitochondrial encephaloyopathies Neuroacanthocytosis Wilson disease Immune infections Paroxysmal kinesiogenic choreoathetosis Paroxysmal nonkinesiogenic choreoathetosis Sydenham chorea SLE Bechet Pertussis,diptheria, varicella Primary APLA syndrome Bacterial endocarditis HSV encephalitis, HIV, infectious mononucleosis, lyme, Vascular AV malformations Basal ganglia infarction or haemmorhage Moyamoya mycoplasma, viral meningoencephalitis (mumps,measles, varicella) Toxins Carbon monoxide, manganese, OPC. Endocrine Hyperthyroidism Chorea gravidarum Hypoparathyroidism, Pseudohypoparathyroidism Nutritional Vit B12 deficiency in infants Drugs Anticholinergics Anticonvulsants----phenytoin, phenobarbitone, carbamazepine. Antidopaminergic--phenothiazines, haloperidol, metoclopramide Antihistamines. CNS stimulants------amphetamine , metylphenidate, pemoline. Dopamine agonists--- levodopa, pergolide, lithium, oral contraceptives Hypocalcemia , hypoglycemia or hyperglycemia, hypomagnesemia, hyponatremia, hypernatremia central pontine myelinosis renal failure Miscellaneous Cerebral palsy, head trauma, BPD(infantile chorea), CABG postpump chorea Neoplastic Primary and metastatic brain brain tumors Primary CNS lymphoma Metabolic

28

HYDROCEPHALUS
Hydrocephalus represents a diverse group of conditions that result from impaired circulation and absorption of CSF or in rare circumstance from increased production by a choroids plexus papilloma. Name Age Sex Consanguinity Handedness Chief Complaints : History of progressive enlargement of head/large head noticed since . History s/o raised ICT (if the onset of hydrocephalus is more than 2 yrs) H/O abnormal eye movements (sunsetting / roving eye movements)

O.D.P.-Details of chief complaints Abnormalities of higher functions - scholastic backwardness, altered sensorium , convulsions History s/o cranial nerve palsy diplopia sunsetting. History of blindness or hearing disturbance. History of focal neurologic deficit. H/S/O gait abnormalities (spastic gait with frequent falls) History of bladder/bowel complaints H/o involuntary movements History of nausea/vomiting/head banging/headache. History of occipital enlargement (Dandy Walker) History of poor feeding/failure to thrive / stridor (nasal encephalocele) Etiological History ANTENATAL HISTORY -Infection (CMV , toxoplasma , mumps) ,Drugs-(vitamin A toxicity-pseudo tumor) , Irradiation , Antenatal detection , presentation BIRTH HISTORY - Prematurity /Dystocia / PROM / Instrumentation POST NATAL HISTORY enquire - H /O trauma , H /O infection (meningitis) , H/O Kochs contact , H/o prolonged hospitalization after birth, H/O hypo pigmented macule with infantile Spasm ( Tuberous sclerosis) , H/O swelling at the back & limb weakness FAMILY HISTORY- In males Congenital aqueductal stenosis (XLR) , Any sibs having similar problem? TREATMENT HISTORY H/o treatment taken/shunt surgery MILESTONES delay OR regression? Motor and mental milestones delayed. Weak head holding due to large head. If there is neuroregression with large head then S/O ( Krabbe/Tay sachs,, Alexander/Canavan , Post TBM ) Diet history & Socioeconomic history.

29

EXAMINATION VitalsBP (hypertension because of raised ICT) Bradycardia Shallow respiration Antropometry with interpretation. Skull-a) Head circumference & Shape of the skull noted.- in terms of AP diameter, Biparietal diameter, Frontal bossing& Occipital prominence. b) Presence of dilated veins c) Anterior & posterior fontanelle-(note their size, shape, borders, pulsation, tension in sitting & supine position) d) Sutural separation e) Transillumination-more than 2 cm in frontal & more than 1 cm in Occipital (it is positive only if the cerebral mantle is less than 1cm).It is positive in massive dilatation of the ventricular system or in Dandy Walker syndrome. f) Bruit over the head-It is positive in many cases of vein of Galen AV malformation. g) Prominent occiput in Dandy Walker/post fossa tumor/arachnoid cyst h) Flat occiput in achondroplasia/Arnold Chiary Malformation i) Craniotabes Sunsetting (paralysis of upward gaze) Spine-Neural tube defects. Look for tuft of hair OthersNeurocutaneous markers-Hypo pigmented patches in Tuberous Sclerosis Dysmorphic features/ coarse features. Rhizomelic shortening (achondroplasia) IU infection (Rash/lymphadenopathy/Hepatosplenomegaly/Cataracts) Crackpot sign. CNS ExaminationHigher functions sensorium , speech Cranial nerves-Sixth nerve palsy,false localizing sign. Vision & hearing Motor -Spasticity is generally more in the lower limb than the upper limb. Brisk jerks in the lower limb. Gait-Truncal ataxia is seen in Dandy Walker. Fundus-Papilledema , Optic atrophy , Chorioretinitis , Cherry red spot Neonatal reflexes. Examination of spine Shunt side, patency , Reservoir present or absent? INVESTIGATIONSX-Ray skull-Calcification/sutural seperation/lacunar skull (Arnold Chiari Malformation-II) USG skull If the V/P ratio is more than0.33 then s/o hydrocephalus 30

C.T & MRI (to find the cause) Intracranial CSF pressure monitoring Others-EEG (If associated with convulsions) , Lumbar puncture ,Slit lamp examination Angiography To look for aneurysm of vein of Galen To monitor complications- Hb, CBC, Urine, Lumbar puncture to rule out shunt infection DIAGNOSIS----------months/years old child with progressive ,gradual enlargement of the head with s/o raised ICT with/without other deficits, the mental age of the child being------,motor age being---------Diagnosis being Hydrocephalus most probably due to -------(D/D of hydrocephalus) Some important points to remember in examination: 1) Measure the head circumference until a constant result around the largest diameter is obtained 2) Take the parents head circumference. 3) Request the progressive percentiles of the child. 4) Examine the back to avoid missing spinal dysraphism. 5) Examine the lower limbs before the upper limbs because the lower limbs are affected first in hydrocephalus as the tracts supplying them run closer to the ventricles. 6) Examine the eye movements-Lateral rectus palsy because of raised intracranial tension/Upward gaze palsy. Always look for the following effects of Hydrocephalus1) Motor-Focal deficits may be present in the opposite limb when Hydrocephalus is associated with porencephalic cyst. 2) Eyes-Squints decreased pupillary light reflex, horizontal nystagmus, and cortical blindness. 3) Endocrine-Precocious puberty/Delayed puberty, Short stature, Hypothyroidism, hypopituitarism. 4) Tremors-S/O Cerebellar herniation 5) Stridor with laryngeal palsy-It is due to coning esp. when associated with Myelocele. DIFFERENTIAL DIAGNOSIS OF HYDROCEPHALUS 1) Thickened cranium secondary to chronic anaemia, rickets, osteogenesis imperfecta & epiphyseal dysplasia. 2) Chronic subdural collection 3) Megalencephaly due to storage of abnormal substances within the brain parenchyma. It is seen in storage disorders/metabolic disorders/ neurocutaneous syndromes. Neurofibromatosis & cerebral gigantism are characterized by an increase in brain mass. 5) Familial megalencephaly 6) Hydrencephaly

31

MENINGOMYELOCELE
The term spinal dysraphism indicates Neural tube defect whereas the term myelodysplasia indicates spinal cord malformation About 75% of patients with meningomyelocele have hydrocephalus whereas patients with only meningocele rarely have hydrocephalus. The causes of hydrocephalus in MMC are- Meningitis -Type II Arnold Chiary malformation -Aqueductal stenosis Name Age Sex Consanguinity Handedness Chief Complaints : Fluid filled swelling in the back with /without CSF leak Convulsions / tonic spasms Para paresis/Paraplegia ODP of chief complaints H/O weakness in the lower limbs H/O muscle wasting H/O involuntary movements /fasciculations H/O sensory symptoms H/O bladder /bowel involvement (retension / incontinence) H/O Cranial nerve involvement History of complications H/o of CSF leak H/o signs of raised ICT-vomiting/convulsions/increasing head Circumference /altered sensorium H/O infection-Fever/ Convulsions/Altered sensorium H/O Bladder/Bowel involvement H/O rupture of sac during birth process ANTENATAL HISTORY H/O Maternal malnutrition-s/o folic acid deficiency H/O drug ingestion during pregnancy -Thalidomide/valparin/ phenytoin H/O hair loss /Skin lesions ,s/o zinc deficiency H/o alcohol ingestion during pregnancy H/o polyhydramnios H/o X-Ray/ irradiation during pregnancy H/o maternal Diabetes Mellitus H/O fever/rash/ lymphadenopathy during pregnancy(s/o IU infection) H/O previous fetal death H/O repeated abortions H/O mental retardation/other congenital anomalies 32

PREVIOUS OBSTETRIC HISTORY

FAMILY HISTORY H/O other siblings affected with similar complaints EXAMINATION A) General Physical Examination Vitals Pallor/Icterus/ Lymphadenopathy Anthropometry with interpretation Skull Examination Headcircumference/transillumination/fontenelles/separation of sutures. Eyes Look for conjugate movements of eyes Neurocutaneous markers Location, size & shape of the defect Leakage from the sac Curvature of the spine/bony gibbus underlying the defect C) CNS ExaminationHigher functions Spontaneous activity Cry/Tone/ Reflexes Response to sensory stimuli in all extremities Motor activity esp. in the lower limbs Examination of the Cranial nerves Anal reflex-May or may not be present depending on the level of lesion. Wasting of muscles Look for CDH & CTEV

B) Examination of the back

D) CVS Examination-Rule out congenital heart disease E) Abdomen-Rule out renal malformation. INVESTIGATIONS 1) Routine investigations 2) X-Ray-Chest -Spine -Pelvic Joints 3) CT Scan Brain 4) MRI-If suspecting posterior fossa tumor& syringomyelia 5) Tests of Renal Functions-Urodynamic studies -IVP -USG of urinary tract -MCU 6) Tests of vision & hearing NEUROLOGIC SYNDROMES IN MMC 33

A) Above L3-Complete paraplegia -Dermatomal anesthesia -Bladder & bowel incontinence B) L4 & Below-Same as for above L3 except for the preservation of hip Flexors, hip adductors& knee extensors -The child is ambulatory with aids, bracing or surgery C) S1 & Below-Same as for L4 & below except for preservation of feet dorsiflexors & partial preservation of hip extensors & knee flexors -The child is ambulatory with minimal aids. D) S3 & below-Normal lower extremity motor function -Saddle Anesthesia -Variable bladder-rectal incontinence.

34

APPROACH TO PARAPLEGIA
Before considering approach to paraplegia let us see the anatomic considerations:A disparity exists between vertebral and segmental spinal cord(s.c.) levels that changes with age. Early in fetal life the s.c. extends through out the bony vertebral column, but during later development vertebral column becomes longer than s.c. so that the caudal end comes to lie at level L2 at birth and in adulthood at L1 ;the lowest part being conus medullaris.Below L1 are only lumbosacral roots the cauda equina. White matter tracks contain ascending sensory and descending motor pathways are located peripherally, whereas nerve cell bodies are clustered in inner region shaped like a clover leaf. S.C. contains 31 segments each containing exiting ventral motor root and entering dorsal sensory root (31 pairs of spinal nerves=8 cervical,12 thoracic, 5 lumbar,5 sacral, 1 coccygeal.). The approximate relationship between S.C.segments and corresponding vertebral bodies is as shown which is helpful in localising lesions in S.C. compression. Spinal cord level Upper cervical Lower cervical Upper thoracic Lower thoracic Lumbar Sacral Coccygeal Corresponding vertebral body Same as cord level 1 level higher 2 levels higher 2-3 levels higher T 10-12 T 12- L1 L1

Vascular supply of S.C.:The anterior and posterior spinal arteries(S.A.) arise from the vertebral arteries and travel caudally,the former in antero median fissure and the two later along side the posterior nerve roots. These long vessels receive tributaries from the intercostals and lumbar arteries at each spinal level.In the lumbar region one prominent artery-Adamkiewicz is an important tributary.The ant.S.A. supplies most of the S.C.;only the post. Parts of the post.horns and post.columns are supplied by the post. Spinal arteries.Both ant.and post. S.A.function as anastomotic vessels linking radicular feeding vessels.Flow may thus vary in different directions.There are two zones of watershed flow in the cord ,one in upper thoracic between flow descending from the vertebral circulation and flow derived from thoracic radicular feeding vessels,and other in lower thoracic region between descending flow derived from thoracic feeding vessels and ascending flow from artery of Adamkiewicz.These are sites of prediliction for infarction of the S.C. Approach : What are the presenting complaints: Partial or complete weakness of both the legs: most commonly as result of an intraspinal lesion at or below the upper thoracic spinal cord level or because of peripheral nerve disease. Is it acute or slowly progressive?

Acute

Slowly progressive
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Trauma Concussion , Epidural hematoma , , Fracture dislocation , Cord transaction Transverse myelitis Devics disease , Encephalomyelitis Idiopathic Discitis Epidural abscess Herpes zoster myelitis Infarction of spinal cord Cardiogenic emboli , Hypotension Vasculitis & Surgeries on aorta Hematomyelia Bleeding disorders , Vasculitis, Trauma Intraparenchymal vascular malformations Extrinsic compression Hemorrhage into subdural/epidural space Polyradiculoneuropathy

Adrenomyeloneuropathy Congenital malformations A-V malformations , Arachnoid cysts , Caudal regression syndrome , states (Chiari Malformation, myelomeningocoele , tethered spinal cord, Syringomyelia Familial spastic papaplegia Autosomal recessive / Auto. dominant / X -linked Infections T.B. osteomyelitis Tumours Extradural(neuroblastoma) Intradural(meningioma,neurofibroma ) Intramedullary(ependymoma) Dysraphic

Symptoms/-ve history that can give clue to diagnosis: Clumsiness of gait--------------slowly progressive disorder Refusal to stand/walk-----------acute process Abnormal skin over spine(tuft of hair, pigmentation, sinus opening,mass)-----spinal dysraphism Foot deformities,stunted growth of limbs----Lower spinal cord dysfunction,tethered cord,caudal regression syndrome Bowel/bladder control disturbance Ask following questions: Is there any sense of bladder filling? Can the patient feel the urine passing? Can the patient stop urine passing at will? Is there associated rectal disorder? Is there any numbness in perineum? Answers to above can identify following bladder problems and possible lesions Uninhibited bladder(urgency at low bladder volume,sudden uncontrolled evacuation,no residual urine)-----parasaggital lesions Spinal bladder (bladder fullness not appreciated,it empties suddenly and reflexly, incomplete evacuation,spastic bladder holding small volume urine)----spinal cord lesion,conus lesion Autonomous bladder(continuous dribbling incontinence,considerable residual urine which may cause UTI,no sensation of bladder fullness,perineal numbness)---cauda equina lesion Seizures,drowsiness,enlarging head,apnea,abnormal respiration----- lesion above spinal cord like Ant cerebral artery ischaemia, parasaggital meningiomas,superior sagittal sinus thrombosis, hydrocephalus(Chiari malformation),diffuse encephalomyelitis 36

History of diarrhoea/viral upper respiratory illness prior to weakness----acute demyelinating neuropathy Trauma to spinal cord---conditions as described above in aetiology Easy fatiguability, vomiting ,diarrhoea, failure to thrive, hyperpigmentation of skin----adrenomyeloneuropathy Fever,viral illness prior to weakness, vaccination history-----transverse myelitis Vision loss-----Devics disease Family history of progressive lower limb weakness, toe walking in child progressing to gradual weakness of lower limbs-----Familial spastic paraplegia High grade fever , back pain-------discitis History of root irritation---radiating pain on coughing/bending back--epidural lesions Rash on skin dermatomal pattern----herpes zoster myelitis H/o suggestive of immunosuppression -recurrent diarrhoea/ LRTIs/AIDS myelitis Long standing fever,chronic cough, family h/o kochs, back pain,refusal to walk---TB osteomyelitis Birth history of prematurity-----------spastic diplegia Limpness of lower extremity acutely------GBS,Transverse myelitis Chronic back pain, no fever--------arachnoid cysts,AV malformations Butterfly rash on face-----SLE Umbilical artery catheterization-----neonatal cord infarction

Examination of CNS Scoliosis: Spinal cord disorders like neural tube defects,spinal cord tumours,degenerative spinal disorders,neuromuscular disease Higher function: Sensorium impaired in encephalomyelitis Cranial nerves: VII commonly in GBS,II in Devics disease Difference between S.C. and peripheral nerve lesions:
Spinal cord involvement Spasticity Dermatomal sensory loss Exaggerated reflexes(except spinal shock) Peripheral nerve involvement Symmetrical distal weakness and wasting Symmetrical distal sensory impairement Loss of tendon reflexes

Level of lesion: Superficial reflexes of spinal origin for localization

Reflex Anal Bulbocavernosus Plantar Cremasteric Abdominal Level of cord concerned S3,4 S3, 4 S1 L1,2 T7-12

The level below which sensory,motor,&/or autonomic function is disturbed is a hallmark of S.C. disease. In general a sensory level to pinprick or temperature,indicating damage to the spinothalamic tract,is located 1-2 segments below the actual level of a unilateral spinal cord lesion,but it may be at the level of the lesion when bilateral.That is because sensory fibres enter cord at dorsal root,synapse in dorsal horn,and then ascend ipsilaterally for several segments before crossing just anterior to central canal to join opposite spinothalamic tract.

37

Lesions that disrupt descending corticospinal and bulbospinal tracts cause paraplegia or quadruplegia,with increasd muscle tone,exaggerated deep tendon reflexes(DTR) and extensor planter signs.Such lesions also typically produce autonomic disturbances,with disturbed sweating and bowel bladder disturbances.A sweat level may be determined by drawing a spoon up the torso,there will be little resistance to movement of the spoon along the dry,non sweating skin;at the level at which sweating begins,resistance will suddenly increase. The uppermost level of spinal cord lesion is often localized by attention to segmental signs corresponding to disturbed motor or sensory innervation by an individual cord segment.A band of altered sensation (hyperalgesia/pathia) at the upper end of the sensory disturbance,fasciculations or atrophy in muscles innervated by one or several segments ,or a single diminished or absent DTR may be noted. These signs may also occur with focal root or peripheral nerve disorders;thus,segmental signs are most useful when they occur with other signs of cord disease. With severe and acute transeverse lesions ,there may be flaccidity of limbs rather than spasticity (so-called spinal shock)This may last for several days ,rarely for weeks and may be initially mistaken for extensive damage to spinal cord or polyneuropathy. Spinal myoclonus:- Brief ,irregular contractions of small muscle groups due to irritation to pools of motor neurons & interneurons due to syrinx or intramedullary tumour.Dermatomal distribution shows site of irritation in spinal cord Patterns of Spinal cord.disease: Most fiber tracts-including the post.columns and the spinocerebellar and pyramidal tracts travel ipsilateral to the side of the body they innervate. Afferent fibers carrying pain and temp. sensation ascend contralaterally as spinothalamic tract. The anatomic relationships produce distinctive clinical syndromes. Brown Sequard hemicord syn.:-Ipsilateral weakness(pyramidal tract) and loss of joint position and vibratory sense (post column),with contralateral loss of pain and temp. sense(spinothalamic tract) below the lesion.The sensory level for pain and temp. is1-2 levels below the lesion. Segmental signs , like radicular pain ,muscle atrophy or loss of DTR ,when occur are unilateral. Bilateral hemicord lesions are more common. Central cord syndrome:It results from disorders of gray matter nerve cells and crossing spinothalamic tracts near the central canal.In cervical cord it produces arm weakness out of proportion to leg weakness and dissociated sensory loss consisting of loss of pain and temp. in cape distribution over shoulders ,lower neck and upper trunk with intact light touch ,joint posn and vibration. Common causes are trauma , syringomyelia,tumours and ant. Spinal artery ischaemia. Ant.2/3rd syndrome:-Due to bilateral extensive disease of S.C. that spares post columns.All S.C. functions-motor ,sensory and autonomic-are lost below the level of lesion,with the striking exception of intact vibration and position sensation.Etiology is vascular thromboembolism of ant. Spinal artery. Intramedullary and extramedullary syndromes: Distinguishing features are relative and serve as rough guides to clinical decision making:
Intrinsic disease Extrinsic disease

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Urge incontinence/retention of urine Dissociated sensory loss Spinothalamic pain Bilateral corticospinal tract signs(late appearance) Paraplegia and sensory level Sensation in perineal & sacral area spared

Root pain,worse on movement Early sacral sensory loss Progressive asymmetric spastic paraplegia Brown Sequard syndrome Paraplegia with sensory level Incontinance/retention of urine and faeces

Specific localizing signs: Thoracic cord:-Lesions are best localized by identification of sensory level on the trunk.Sensory dermatomes of the body are shown in fig.2,useful markers are at nipples(T4) and umbilicus(T10).Weakness of legs and disturbances of bladder ,bowel function may accompany.Abdominal wall musculature,supplied by lower thoracic cord , is observed during movements of respiration or coughing or by asking patient to interlock fingers behind the head in supine posn and attempt to sit up.Lesions at T9-T10 paralyse the lower ,but spare the upper abdominal muscles resulting in upward movement of umbilicus( Beevors sign) and loss of lower but not upper superficial abdominal reflexes.Midline backpain is a useful localizing sign in the thoracic region. Lumbar cord:Lumbar and sacral cord segments progressively decrease in size ,focal lesions of these segments are less easily localized than in cervical and thoracic regions. Lesion at L2-L4 paralyse flexion and adduction of the thigh,weaken leg extension at knee and abolish patellar reflex.Lesions at L5-S1 paralyse movements of foot and ankle,flexion at knee and extension of thigh and abolish ankle jerk(S1).Cremasteric reflex(L1L2)localizes lumbar cord disease. Sacral cord/conus medullaris Isolated lesions of conus spare motor and reflex functions in the legs.Conus syndrome is distinctive-Bilateral saddle anesthesia(S3-S5),prominent bowel and bladder dysfunction (urinary retention and incontinence with lax anal tone).Bulbocavernosus (S2-S4) and anal (S4-5) reflexes are absent.Muscle strength is largely preserved. Cauda equina lesions are characterized by severe low back or radicular pain, asymmetric leg weakness or sensory loss , variable areflexia in lower extremities , and relative sparing of bowel and bladder functions.Mass lesions in lower spinal canal may produce mixed clinical picture-cauda and conus syndromes

39

Guillian Barre Syndrome

It is an important cause of acute flaccid paralysis (AFP)a collection of clinical syndromes manifested by an acute inflammatory polyradiculopathy with resultant weakness and reflex changes. Name Age Sex Consanguinity Handedness Chief complaint History of weakness in limbs-AFP which is acute onset of flaccid paralysis (<2 months) Unilateral /Bilateral weakness of limbs Bilaterally symmetrical or asymmetrical weakness Where does it start:From lower limbs and progresses upwards or vice versa Sudden or insidious onset Proximal or distal weakness Involvement of upper or lower limb Involvement of respiratory muscles: anxious expression, difficulty in breathing, inability to speak without frequent pauses Involvement of bulbar muscles-pooling of secretions in mouth, nasal regurgitation/nasal twang, dysphagia,dysarthria Associated history/-ve history: Higher function abnormalities (sensorium, speech) Cranial nerve deficit: facial asymmetry,drooling saliva from angle of mouth(VII N); nasal twang,regurgitation(IX,X N),diplopia,eye movements(III,IV,VI N) Sensory disturbances-tingling numbness, pain. Abnormal gait / posture( tripod sign) Bladder/bowel disturbance Autonomic disturbances:flushing,sweating ,palpitations, postural hypotension Ataxia ,involuntary movements Wasting of muscles H/S/O increased intracranial pressure Etiological history: Diarrhoeal /upper respiratory illness weeks prior to paralysis----GBS Immunisation -OPV, IM injection & fever prior to paralysis (-Polio ) Paralysis early morning after food ingestion,previous history or familial history of paralysis----Periodic papalysis Throat pain ,dysphagia,neck swelling(bull neck)---Diptheria Consumption of honey/tinned food ( botulism) H/O drug intake vincristine , vinblastine H/O pica (heavy metal intoxication (lead)) H/O trauma to spine H/O polyuria / polydipsia / weight loss (DM) H/O fever with exanthem(herpes, mumps , rubella, entero/ EBV)H/O pain swelling Birth, Immunisation history (especially OPV), Developmental, dietary history Examination: Decubitus especially of lower limbsDemonstate flaccidity Vital parameters: Heart rate,Blood pressure for autonomic dysfunction Throat---patch for diptheria 40

Anthropometry with interpretation Blue line on gums NC markers Spine CNS Drooping of shoulder s/o diaphragmatic paralysis Fasciculations Thickened nerves Reflexes Superficial important as in case of transverse myelitis for level of the lesion Signs of meningeal irritation Features suggestive of GBS are Ascending weakness,symmetrical involvement Lower limbs involved before upper limbs Proximal involvement earlier than distal Weakness progressing over days to weeks with peak maximally at 4 weeks Deep tendon reflexes absent even before paralysis. Cranial nerves: common VII nerve If abnormal gait(ataxia) with eye movements impaired(opthalmoplegia)---Miller Fischer variant Bladder distension Other variants: The acute motor axonal neuropathy (AMAN) variant has pure motor symptoms very similar clinical presentation to patients with the demyelinating form of GBS with ascending symmetric paralysis. The axonal form of GBS, also referred to as acute motor-sensory axonal neuropathy (AMSAN), often presents with rapid and severe paralysis with delayed and poorer recovery . A pure sensory variant of GBS , typified by rapid onset of sensory loss and areflexia in a symmetric and widespread pattern. Acute pandysautonomia without significant motor or sensory involvement is a rare presentation of GBS. Dysfunction of the sympathetic and parasympathetic systems results in severe postural hypotension, bowel and bladder retention, anhidrosis, decreased salivation and lacrimation, and pupillary abnormalities. The pharyngeal-cervical-brachial variant is distinguished by isolated facial, oropharyngeal, cervical, and upper limb weakness without lower limb involvement. Other variants with restricted patterns of weakness -are rare Respiratory system

Involvement of respiratory muscles: increased respiratory rate , movements of alae nasi and other accessory muscles of respiration , inability to cough or sniff with full depth ,Single breath count .Paradoxical abdominal movements due to diaphragmatic immobility .Deltoid paralysis suggests impending respiratory paralysis Observation of patients capacity for thoracic breathing while abdominal muscles are splinted manually Light manual splinting of thoracic cage helps assessment of diaphragmatic movts. PA see for phantom hernia on abdominal wall ( polio) CVS muffled heart sounds (viral myocarditis, diphtheria) Diagnosis ..yr old male/female with H/o acute onset progressive / non progressive flaccid weakness with/ without central signs , with/ without signs of meningeal irritation with/ without respiratory embarrassment most probably --------

41

Differential diagnosis of GBS - shown in the table below

Polio Installation of paralysis Fever at onset

Guillain-Barr syndrome

Traumatic neuritis From hours to 4 days Commonly present before, during and after flaccid paralysis

Transverse myelitis From hours to 4 days Rarely present

24 to 48 hours onset to From hours to 10 days full paralysis High, always present at Not common onset of flaccid paralysis, gone the following day Acute, usually asymmetrical, principally proximal Reduced or absent in affected limb Decreased to absent Severe myalgia, changes Only when bulbar

Flaccid paralysis

Generally acute, symmetrical and distal Global hypotonia Globally absent Cramps, tingling, and soles Often present, affecting

Asymmetrical, acute and affecting only one limb Reduced or absent in affected limb Decreased to absent

Acute, lower limbs, symmetrical

Muscle tone Sensation Deep-tendon reflexes Cranial nerve involvement Respiratory insufficiency

Acute, lower limbs, symmetrical Absent in lower limbs early

hyperreflexia late Pain in gluteus, hypothermia Anesthesia of lower limbs with sensory level Absent Absent Absent Sometimes

backache, no sensory hypoanaesthesia of palms

involvement is present nerves VII, IX, X, XI, XII Only when bulbar In severe cases, involvement is present enhanced by bacterial

Autonomic signs & Rare symptoms

pneumonia Frequent blood pressure Hypothermia in affected limb Present alterations, sweating, blushing and body temperature fluctuations Albumin-cytologic dissociation Transient Abnormal: slowed conduction, decreased

Cerebrospinal fluid Bladder

Inflammatory Absent

Normal Never Abnormal: axonal damage

Normal or mild in cells Present Normal or abnormal, no diagnostic value

dysfunction Nerve conduction Abnormal: anterior velocity: third week EMG at three horn cell disease 2 weeks) Abnormal

(normal during the first motor amplitudes Normal Symmetrical atrophy of distal muscles Normal Moderate atrophy, only in affected lower limb Normal Flaccid diplegia atrophy after years

weeks Sequelae at three Severe, asymmetrical months and up to atrophy, skeletal a year deformities developing later

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PSYCHOMOTOR REGRESSION
Name : Age : Sex : Informant: Consanguinity Handedness Community Chief complaints :loss of achieved mile stones convulsions progressive increase in size of head vision / hearing / speech regression

Narrative History :1] Convulsions :- generalised tonic, clonic, myoclonic, tonic spasms, focal (convulsions suggest that the disease involves grey matter degeneration eg, Alper poliodystrophy, Neuronal ceroid Lipofuschinosis ) In certain epilepsy syndromes, convulsions are the hallmark which precede the onset of regression. e.g. West Syndrome - Infantile spasms - Lennaux Gestaut syndrome tonic spasms . Certain aminoacidopathies& organic acidurias patients / urea cycle defects convulsions may be due to metabolic disturbances like hypoglycemia, hyperammonemia etc ) SSPE - Myoclonic jerks Scholastic backwardness - SSPE, HIV, encephalopathy Wilsons disease. Behavioural changes - hyperactivity - sanfillipo, X linked ALD, Autistic behavioural - Autism, Rett's Syndrome 2] Progressive dementia / personality changes-

3] Loss of motor milestones - eg. loss of head control, turning over. Period over which these milestones are lost in important. Progressive Sudden Neuro degenerative disorders Post encephalitis Mitochondrial disorders like MELAS

White matter degeneration is characterised by focal neurological deficits / spasticity / blindness or hypotonia (looseness of body). 4) Progressive disturbance of gait and co-ordination X linked Adrenoleuko dystrophy Progressive hydrocephalus

Focal neurological deficits - mitochondrial disorders 5] Vision problems : 1] Progressive loss of vision hydrocephalus, Tay sachs disease Neuronal ceroid hipofuschinosis, Wilson's disease ( Cataract) 43

2] Visual inattention - autistic spectrum disorders, Rett's syndrome 6] Speech abnormalities - Aphasia expressive aphasia - Rett / autism Dysarthria - cerebellar disorders ( Juvenile MLD) 7] 8] Ataxia - MLD, ALD, Spasms nutan - pelizeus merchbacker Involuntary Movements Chorea, athetosis - Huntington , Wilson, pelizeus merchbacker Dystonia / Dyskinesis Hand wringing, washing, tapping movement Sterotypy - Rett's syndrome 9] Akinesia - Leigtis encephalomyelopathy, parkinsonian features H/o. complication - contractures / bedsore Repeated infections 10] Increasing head size - progressive hydrocephalus, Alexander / Canavan 11] Sensory disturbances - trophic ulcers associated with peripharal neuropathy - MLD, INAD, krabbes 12] Progressive bulbar symptoms - feeding difficulties 13] H/o. Repeated vomiting, failure to thrive - neurometabolic disturbances aminoacidopathies / organic acidemias 14] H/o. fever,, altered sensorium / convulsions Encephalitis H/o. lethargy, constipation, neck swelling hypothyroidism. 15] H/o. Jaundice - Wilson's 16] H/o. Measles - SSPE 17] H/o. Self mutilation Lesch nyhan syndrome 18] Family history of similor illness in other sib / sib death 19] H/o. Breathing abnormalities 20] Birth history 21] H/o. typical body / urine adore 22]H/o. complication - contractures / bedsore Repeated infections 23] Developmental history - Details of milestones - normal / delayed prior to onset of regression. 24] Diet history 25] Immunisation history EXAMINATION General examination Decubitus Temp. Pulse respiration BP Anthropometry with interpretation size & shape of skull - overriding of sutures Anterior fontanelle Dysmorphic features - Grotesque features, Hypothyroid / MPS NC markers - Tuberous sclerosis, ataxia telengiectasia, caf au lait spots Chediac Higashi 44

Skin changes - Hypothyroidism - Xerodema pigmentosa Hair - menke's kinky hair Trophic ulcers - (peripharal neuropathy) Self mutilation - Lesch nyhan

Fundus :- optic atrophy Cherry red spot Retinitis pigmentosa Central nervous system Examination PA - organomegaly Diagnosis: __________year M/F_____, BO_______ Marriage ______ of ________community, with acute / insiduous onset of regression of motor / mental milestones with visual /hearing impairment, with spasticity / hypotonia, with micro/macrocephaly, with seizures with/without abnormal movement with/without HS megaly suggesting involvement of grey/white matter, most probable Differential diagnosis .

NEUROREGRESSION
A neurodegenerative disease is defined as any disorder in which a patient sustains a loss of previously acquired developmental milestones, or a decreased velocity of acquired development. History Most important aspect Genetics and involved members Early milestones achieved normally or delay from onset? History of early features of regression How has it progressed? Associated features - seizures, skin lesions. Is it predominantly white or grey matter involvement ? Inheritance Is it neuroregression? White vs Grey matter involvement Mainly myelin tracts involved Loss of motor skills Spasticity Ataxia Seizures Type depends on maturity, location and nature of causative lesion Newborn - multifocal clonic, tonic 2-12 mths - infantile spasms 1-2 years - minor motor sz of akinetic, myoclonic type 3-5 yrs - typical and atypical absences polymyoclonus, GTCs. 45 Mainly neurons involved Seizures Intellectual changes Visual loss

Predominant neurological abnormality Predominant abnormalities - correlate quite well with pathology Motor loss, visual loss-white matter Seizures, intellectual and behavioural changes-grey matter Chorea, dystonia, tremor, rigidity, ballismus-basal ganglia Ataxia, unsteady gait, hypotonia-cerebellum Depressed reflexes-peripheral neuropathy Grey Matter Involvement Poliodystrophies / Alpers disease Progressive neuronal degeneration of childhood with hepatic involvement Ceroid Lipofuscinosis (NCL/Battens disease) Infantile - Santovuori - Hagberg Late infantile - Jansky - Bielschowski Juvenile - Spielmeyer - Vogt Adult - Kufs Menkes Kinky hair disease Retts syndrome. Basal Ganglia Involvement Heredodegenerative Hallervorden Spartz disease Idopathic torsion dystonia Ataxia telangiectasia Pelizaeus Merzbacher disease Huntingtons disease Neuroaxonal dystrophy (infantile tyype) Cerebellar Involvement Metabolic causes: Adrenomyeloneuropathy GM1 and GM2 gangliosidosis Refsums disease Hereditary Spinocerebellar ataxias Autosomal recessive - Freiderichs ataxia , Autosomal dominant & X linked cerebellar ataxia Metabolic causes : Wilsons disease GM 1 and GM 2 gangliosidosis Metachromatic leucodystrophy Ceroid lipofuscinosis Lesch - Nyhan syndrome Others Alpers disease 46 Homocystinuria Methylmalonic and Propionic aciduria Glutaric aciduria Mitochondrial disorders Infective causes; SSPE

 HIV encepalopathy Pelizaeus Merzbacher disease Ataxia Telangiectasia Myoclonus Opsoclonus SSPE Examination: Skin and hair Menkes - pili torti Ataxia Telengiectasia - ears, eyes, eyes, side of nose Farbers - subcut nodules, swollen joints, dysphonia Optic atrophy PMD Neuroaxonal dystrophy Spongy degeneration Juvenile Gauchers MPS - Hurler, Hunters Frederiechs ataxia Hallervorden Spatz Lafora disease Adrenoleucodystrophy Krabbes disease NCL Ophthalmology -Disorders with ocular movements Ataxia telangiectasia Niemann Pick disease Leighs disease Juvenile Gauchers Frederichs ataxia Abetalipoproteinemia Pelizaeus Merzbacher disease Infantile Gauchers Macular degeneration Hallerverdan Spatz Abetalipoproteinemia NCL - Late infantile Juvenile Refsums disease Cherry Red Spot: Mucolipidosis Tay Sachs disease Sandoffis disease Niemann Pick disease

Peripheral Neuropathy Krabbes Metachromatic Leucodystrophy Leighs disease Hepato splenomegaly With dysmorphism GM1 Gangliosidosis MPS Mucolipidosis Zellwegers Head size 47 without dysmorphism Niemann-Pick Gauchers Farbers

Microcephaly Alpers Menkes Krabbes MLD Retts

Progressively enlarging head Canavans Alexanders Late state Tay Sachs Glutaric aciduria Vanishing white matter

D/D of Progressive Myoclonic Epilepsy Nonketotic hyperglycinemia Neuronal ceroid lipofuscinosis Alpers Menkes White matter involvement Metachromatic leucodystrophy Globoid cell (Krabbe's) leucodystrphy Adrenoleucodystrophy Zellwegers syndrome, neonatal ALD Canavan's disease Pelizeaus Merzbacher disease Alexanders disease Leucodystrophy-calcification of basal ganglia Leucodystrophy-vanishing white matter Lafora disease MELAS SSPE Myoclonic epilepsy with ragged red fibres

Investigations MRI, MR angiogram, MR spectroscopy Ophthal ERG,VEP,BERA EEG EMG/NC CSF - lactate,pyruvate,proteins,IgG Blood - enzymes,VBG,anion gap amino acids, VLCFA,Cu,ceruloplasmin Urine - organic acids,amino acids.

48

Approach to a case of Congenital Heart Disease

5 Basic questions to be answered in every case: 1) Cyanotic or Acyanotic? 2) Increased Pulmonary Blood Flow / Decreased PBF? 3) Origin of the lesion is in the Right /Left heart? 4) Which is the dominant ventricle? 5) Presence/ absence of Pulmonary Hypertension? The common cases of Acyanotic Heart lesions with a left to right shunt: ASD, VSD, PAPVC, PDA, AP-Window, Endocardial Cushion Defect. Cyanotic lesions: With Increased PBF: TGA DORV Truncus Arteriosus TAPVC Single Ventricle Common Atrium Tricuspid Atresia with VSD. With decreased PBF: Pulmonary Atresia with intact ventricular septum Ebsteins Anomaly Single Ventricle with Pulmonary Stenosis Tetralogy of Fallots TGA with PS DORV with PS.

Conditions with Pulmonary Hypertension : ASD,VSD, PDA with Eisenmengers Complex (reversal of shunt from Right to Left) , Hypoplastic Left Heart Syndrome, TAPVC with increased Pulmonary Vascular Resistance. HISTORY TAKING: ANTE-NATAL HISTORY: H/o infections, disease and drugs in the mother. Infections: Maternal Rubella during the first trimester causes PDA/ PS CMV, HSV and Coxsackie-B during later trimesters may cause Neonatal Myocarditis. Maternal Disease: e.g. Diabetes Mellitus - TGA/Cardiomyopathy. SLE - Complete Heart Block Drugs/Medications: e.g. Anticonvulsants Aortic Stenosis /Pulmonary Stenosis/ Coarctation of Aorta (CoA) Alcohol - Septal Defects viz.ASD / VSD. 49

Lithium TGA. NATAL HISTORY: Birth Weight: If e/o IUGR R/o Intra-uterine infections. If e/o LGA R/o Infant of Diabetic Mother. POST NATAL HISTORY: - H/o poor weight gain / Failure to thrive ( weight more affected than height ). - H/o Poor feeding i.e. suck-rest-suck cycle due to fatigue and dyspnoea due to increased PBF. - H/o tachypnoea with/without dyspnoea (which worsens during feeds) (Sleeping Respiratory rate of > 40 breaths/min). - H/o periorbital puffiness / edema (s/o systemic venous congestion). - H/o frequent respiratory tract infections (due to Left to Right shunt with increased PBF ). - H/o decreased exercise tolerance (seen with Left to right shunts, cyanotic lesions, valvular abnormalities and arrhythmias) . Ask in terms of inability to climb stairs/walk short distances/play outdoor games as compared to other children of the same age.

HISTORY OF MODES OF PRESENTATION: 1) History of Murmur : Time of detection In neonatal age: AS/PS/Small VSD/PDA. In Early infancy: Large VSD/PDA (after 6-8 weeks i.e. regression of the PVR) If incidently found during fever/pre-school evaluation innocent murmur. Most common conditions which may present as asymptomatic murmur : VSD,ASD, PDA, PS, CoA, AS. 2) H/o Cyanosis : Presenting in the first week of life (all T): TGA, Truncus Arteriosus ,Total AV-Canal Defect ,Total Pulmonary Atresia , Tricuspid Atresia, Tricuspid Regurgitation with Ebsteins anomaly of the Tricuspid Valve. After first week of life Tetralogy of Fallots, Total Anomalous Pulmonary Venous Circulation. 3) H/o Cardiac Failure: First week of life CoA, Critical Aortic Stenosis,Truncus Arteriosus and Hypoplastic Left Heart Syndrome. Early infancy- Large VSD, Common AV-Canal Defect, Large PDA and TAPVC. 50

Later age SVT/Arrhythmias, Myocarditis, Cardiomyopathy. 4) H/o Chest pain : Ask about A) Duration of pain. B) Nature of pain (stabbing/sharp/squeezing). C) Radiation to other parts of the body (neck, arm, etc). D) Activity related / at rest. E) Accompanied by palpitations/syncope/dizziness. F) Chest trauma in the recent past. Most common causes of chest pain in children are NON-CARDIAC: - Pleuritis, Trauma, Costochondritis. CARDIAC causes of chest pain are: - Severe AS (usually increases with activity) - Pulmonary Vascular Obstructive Disease - Mitral Valve Prolapse (usually with palpitations) - Pericarditis. - Kawasakis Disease (due to coronary involvement) - Severe PS. 5) H/o Palpitations: Most common with MVP, SVT, Long QTSyndromes. 6) H/o Cyanotic Spells: Classical: TOF with infundibular spasm. Ask about A) Time of occurrence common in early morning/ on awakening / post feeds. B) Duration and Frequency of the spells for prognosis and early intervention. C) H/o squatting episodes /knee-chest positions by self. Breathing rapidly/ no breathing during the spell to differentiate from Breath holding spells. 7) H/o Syncope: S/o arrhythmias, MVP, Long QT-syndrome and if related to exercise- s/o severe AS. 8) H/o Cerebral events viz. Convulsions/Transient Ischemic Attacks/ Strokes: - Emboli may occur with right to left shunts, Polycythemia and may lead to cerebral thrombosis and brain abcess. 9) H/o any medications being taken by the child : Ask about Name of the drug, dosage,timing and compliance. Past admissions to the hospital for cardiac failure /surgery. 10) H/o signs and symptoms of Infective endocarditis viz. prolonged fever, rash, hematuria, splinter hemorrhages,etc. FAMILY HISTORY: 1) H/o Congenital Heart Disease in parents/siblings (risk of recurrence). 51

2) H/o sudden/unexplained death at young age in the family (Long QTSyndrome/Cardiomyopathy). ASSOCIATED SOCIAL HISTORY: 1) Impact of disease on the child : growth, development, academic performance, sports restrictions, peer attitudes, teachers attitude, amount of school missed . 2) Impact of disease on the parents : financial condition, burden, aid received from Govt. /NGOs, plans for future pregnancy, genetic counseling, awareness of risks of recurrence and availability of Fetal echocardiography. 3) Coping with disease: Parents understanding of the disease, Prognosis, treatment options, antibiotic prophylaxis and signs of Infective Endocarditis. 4) Immunization status: Especially Measles, Hepatitis-B, Tetanus . EXAMINATION Inspection: Look at the WHOLE CHILD. Estimate the age and growth /general health of the child. Face: - R/o dysmorphism: Downs / Turners / Noonhans / Marfans /Williams / Cri-du-chat Syndromes . - Central cyanosis: Best noted in the tongue / perioral area . - Dental caries: As a risk of infective endocarditis. - Conjunctival Injection: Seen with e/o increased hematocrit / polycythemia in Cyanotic Congenital Heart Disease. Hands / Feet: - Cyanosis in the nails. - Clubbing (mention the grade) s/o chronic cyanosis. - Splinter hemorrhages and Oslers nodes in Infective endocarditis. - Feel over the elbows in an hypertensive child to detect tuberous/tendon Xanthomata to r/o hypercholesterolemia . Chest: - Operation Scars. - Asymmetry of chest: Precordial bulge / chronic cardiomegaly. - Harrisons Sulcus: May occur with increased PBF conditions. Palpation: Arterial Pulse: - Check for both radials, brachials and femorals for volume and rhythm. Look for Radio-Femoral delay (in a c/o CoA). - If radial pulse not felt: r/o Holt-Oram Syndrome, TAR syndrome. - If pulses are unequal: r/o ipsilateral BT-shunt, CoA involving the Left Subclavian Artery. 52

Always measure the Blood Pressure in every case with an appropriate cuff size (covering at least 2/3rd of the upper arm). Measure in the right arm and note whether in sitting/sleeping/standing position. Mean Systolic - 90 + age in years. Mean Diastolic - 55 + age in years. Rate: Never guess the rate. Count for 1 full minute. Normal Range: AGE 0-2 yrs 2-6 yrs > 6 yrs RATE 80-140/min. 75-120/min. 70-110/min.

If e/o Bradycardia r/o Drugs (Beta-blockers/Digoxin), Complete Heart Block, Sinus bradycardia in atheletes. If e/o Tachycardia R/o CCF, Tachyarrhythmias or an anxious child. Rhythm: Regular or Irregular? - Sinus arrhythmias occurring with respiration is universal in young children. - If irregularly irregular r/o Atrial Fibrillations seen in cases of ASD, post-atrial surgery, Ebsteins Anomaly, Mitral Stenosis. Volume of the pulse: a) Large volume and rapid collapse: Water-hammer pulse R/o PDA, Aortic Regurgitation. b) Small volume: R/o cardiac failure, shock,outflow obstruction viz .Aortic Stenosis, Pericardial effusion. c) Normal volume but jerky pulse : Hypertrophic Obstructive Cardiomyopathy. ALWAYS feel for the presence of a THRILL in the suprasternal notch to r/o AS. Measure JVP only in older children which could be elevated in c/o Right heart failure, Cardiac Tamponade and fluid overload. Palpation of the Chest: Apex Beat: The furthest lateral and inferior position of the cardiac impulse. - Usually in the 4th intercostal space, in the mid-clavicular line. - If displaced to the left: r/o cardiomegaly, scoliosis and pectus excavatum.. - If displaced to the right: r/o true dextrocardia /dextro-position of the heart due to Pulmonary Fibrosis, diaphragmatic hernia. - Feel for the liver to r/o Situs Inversus / Kartegeners Syndrome and hepatomegaly. Quality: Well Sustained- Aortic Stenosis. Forceful- LVH With systolic thrill at upper left sternal edge- Pulmonary Stenosis. With Systolic thrill at left lower sternal edge-VSD. Parasternal Heave-RVH. 53

Thrills: Localize the site.The murmur is atleast grade IV/VI in intensity. Palpable 2nd heart sound: s/o Pulmonary Hypertension. Auscultation: Check all the 4 areas- Mitral, Tricuspid, Pulmonary and Aortic areas. Check first and second heart sound. R/o added sounds like mumur- if present- is it in systole or in diastole? If e/o systolic murmur- always listen over the carotids to r/o AS. Auscultate the back- innocent murmurs DO NOT radiate to the back. Loud first heart sound:-ASD,MS. Loud second heart sound: Increased PBF PDA, ASD, large VSD and PH. Split second heart sound: Universal in children and varies with respiration as Aortic closure precedes the Pulmonary closure. If fixed split (no change with respiration): ASD. If widely split: ASD,RBBB and PS. If single second heart sound: TOF/PS (due to inaudible pulmonary component). Extra sounds: 3rd sound (early in diastole) best heard over the apex with the bell, normal in healthy children and at times with either ventricle failure. 4th sound (late diastole) NEVER normal, r/o either ventricular failure / PH. Opening snap (after the 2nd sound and high-pitched) - s/o MS. Ejection click (after 1st sound and high pitched)- s/o AS/PS. MURMURS: Define the following: - Intensity (grade 1 to 6). - Where is it loudest? - Where does it radiate? - Timing (systolic/diastolic/both)? - Duration (early systolic/pansystolic)? - Pitch and quality (blowing/high/low)? - Does it change with respiration/posture? Innocent murmurs are: Stills murmur, Pulmonary Ejection systolic murmur and Venous hum.

Common conditions with murmurs: -VSD: PSM at the left sternal edge .If large : mid-diastolic mitral flow murmur. - PS: ESM at the left 2nd intercostal space. - ASD: ESM at the Pulmonary area, left 2nd IC space. - MR: PSM at the apex and left axilla. 54

- PDA: Continuous murmur below the left clavicle and radiates to the back. Investigations: Arterial Blood Gas/ Pulse oximetry - note the oxygen saturation (cyanotic congenital heart disease.) Hyperoxia test will help in distinguishing cardiac Vs Respiratory cause of Cyanosis. Chest X-Ray - for size, position and shape of heart , pulmonary vasculature ( Increased /Decreased / normal ). Also note the situs , arch laterality , vertebral and rib anomalies ( syndromic association ) ECG- axis, rate, rhythm, P-wave, QRS-complex, LVH/RVH hypertrophy. 2D-Echocardiography/ colour Doppler Last of all investigations to confirm diagnosis , know accurate measurements and Doppler estimations for estimating gradients and note the presence or absence of pulmonary hypertension . Invasive: Cardiac Catheterization Rarely used for diagnosis . reserved for those with poor transthoracic echocardiographic window , essentially to measure pressure gradients prior to surgery. Treatment: Management of heart failure : Diuretics, High calorie feeds with nasogastric tube to reduce the work of feeding, Digoxin, ACE-inhibitors, Oxygen, IV inotropes and Ventilation SOS and early referral for surgery if e/o complications or no response to conservative therapy. Management of Cyanotic Spells: Knee-chest position, Oxygen, Sodium bicarbonate , Morphine , beta-blockers, and palliative surgery. Management of cyanotic neonate: Prostaglandin infusion, prevent closure of PDA, treat acidosis, sepsis, hypoxia, hypoglycemia and hypothermia. IE prophylaxis- Erythromycin/Ampicillin/ Gentamycin. CoA: Continuous murmur at left sternal edge and b/w the scapulae.

55

Flow Chart of acyanotic congenital heart defects

ACYANOTIC DEFECTS

Increased PBF

Normal PBF

LVH/CVH VSD PDA ECD

RVH ASD PAPVR PVOD (secondary L- R shunts )

LVH AS/AR COA Primary myocardial EFE MR

RVH PS COA(infants) MS

. Flow diagram of cyanotic congenital heart diseases

CYANOTIC DEFECTS

Increased PBF LVH/CVH

Persistent Truncous Arteriosus Single ventricle TGA+VSD

Decreased PBF CVH

TGA+PS Truncous + hypoplastic PA Single Ventricle+ Pulmonary Stenosis

RVH
TGA TAPVR HLHS

LVH
Tricuspid atresia PA+ hypoplastic RV

RVH
TOF PVOD Ebstein's anomaly

56

Rheumatic Fever and Valvular heart diseases

Four types of clinical scenarios usually present : 1. Acute rheumatic fever 2. Relapse of acute rheumatic fever with chronic valvular heart disease. 3. Isolated Rheumatic valvular disease with H/o infective endocarditis 4. Combined chronic valvular disease Acute rheumatic fever- Delayed , often recurrent , probably autoimmune reaction to Group A beta- hemolytic streptococcoal pharyngitis involving joints , skin , brain and endocardium and heart valves . History : H/o streptococcal pharyngitis Fever , sorethroat - in the recent past (2-3 weeks back) H/o pallor, epistaxis , abdominal pain . H/o Joint pain, swelling, duration, joints involved,characteristics of pain and relief with medications (arthritis). H/o dyspnoea,palpitations easy fatigability ,exercise intolerance, chest pain, syncope ( s/o Carditis) H/o skin rash, or nodes ( erythema marginatum , sub cutaneous nodes) H/o neurological symptoms- purposeless movements, emotional lability, ( Chorea) H/o complications ( PND, orthopnoea, hemoptysis, palpitations, syncope , edema ). S/o infective endocarditis (fever with chills,petechie, subcutaneous painful nodes , hemoptysis,hematuria ,skin lesions) H/o medications taken for fever and other symptoms . H/o previous similar such episodes, If RHD h/o penidura injection compliance & frequency . Family history of rheumatic fever / rheumatic heart disease. Immunization, dietary , development & socioeconomic status enquired . Examination : General Vitals, Growth parameters, Scars, Chest asymmetry , icterus, teeth- caries , lymph nodes. Skin - erythematous rash & subcutaneous nodes over extensor surface of head , back & limbs.Nails - pallor, clubbing, cyanosis. Joints - pain, swelling, tenderness & restriction of movements. Cardiovascular examination Peripheral - Venous, major arterial pulses & Blood pressure (upper & lower limbs). Precordium Inspection Scars, symmetry, apical pulsation Palpation Apex position, point of maximal impulse (PMI), heaves, (parasternal, substernal, apical) Thrills (Suprasternal, supraclavicular and over precordium) Palpable S2- (pulmonary hypertension)

Auscultation- (use diaphragm initially, then the bell) Areas- Apex, parasternal border,pulmonary , aortic areas ( roll patient to left to accentuate mitral murmurs). 57

Heart sounds intensity, splitting . Added sounds & Murmurs- systolic/ iastolic/ continuous define intensity, character, grade , radiation of murmurs & Variation of murmurs on sitting , inspiration and expiration. Other Systems- Abdomen Liver measure span, note pulsation and tenderness Spleen infective endocarditis CNS - Fundus and other signs of infective endocarditis. - Choreiform movements Diagnosis - c/o Acute rheumatic fever /RHD with -------------murmur , grade------, in sinus rhythm with/ without CHF, with/ without signs of IE, with / without PH , with/ without rheumatic activity at present with most probable heart involvement being -------Investigations: Sleeping pulse rate ( tachycardia - myocarditis/ CHF) Complete blood count with ESR and CRP (Lab. Criteria) Throat culture, ASLO (second antibody titre/ rising titres if initial is normal) Blood culture (if IE is suspected) X ray chest for cardiomegaly, pericardial effusion and pulmonary oedema ECG - PR interval and chamber enlargement 2 D Echo /CD Status of cardiac myocardial, valvular & pericardial involvement. Differential Diagnosis for rheumatic fever- Arthritis - Juvenile Rheumatoid arthritis , Collagen vascular diseases, virus associated arthritis, Hematological disorders causing arthritis. Commonly asked questions: Jones criteria- original, modified, update and limitations of Jones criteria. Conditions causing similar cardiac lesions: MR- RHD, Collagen vascular disorders, MVP, congenital MR, Marfan's, IE, MPS, Functional MR, CHF, Ehler- Danlos. AR- RHD, Connective tissue disorders. MS RHD , MVP & Congenital MS. Differentiation between rheumatic arthritis and rheumatoid arthritis . Nonspecific criteria for rheumatic fever (abdominal Pain, anorexia, wt. loss, epistaxis, pallor, chest pain,pneumonia , tachycardia) Causes of diastolic murmur - Carey combs (active carditis) ,Flow murmur-severe MR , Mid diastolic murmur of MS and AR murmur. Differentiation between ARF and RHD.Signs of rheumatic activity . Prognosis and sequelae of carditis, arthritis and chorea. Causes of chorea and description of rheumatic chorea. Surgical indications in various Rheumatic valvular heart disease. Peripheral signs of Infective endocarditis and Aortic regurgitation. Drugs for primary and secondary prevention of rheumatic fever if patient is allergic to Penicillin. Other tests to prove streptococcal infection.

58

CRITERIA Carditis-Major criteria Valvulitis Endocarditis

FIRST ATTACK Apical systolic murmur MR Diastolic murmur- Cary Coombs ) Occasionally AR Unexpected cardiomegaly / CHF/ Tachycardia Pericardial rub Silent or significant MR/AR in absence of murmur with arthritis migratory polyarthritis (Self limiting pain+ swelling) Late manifestation

RECURRENCES Change in murmur, new murmur

Myocarditis Pericarditis 2D-ECHO/CD (minor) Arthritis Major criteria Chorea (major criteria)

Worsening cardiomegaly / worsening CHF

Arthralgia (only pain)

Erythema Marginatum-major criteria Subcutaneous nodules major criteria Minor Criteria -----------------------------

Secondary major manifestations Isolated skin manifestations in the absence of carditis or arthritis insignificant Fever low grade 100- 102 Arthralgia (in absence of arthritis) Increased ESR Increased -PR interval or QT no correlation with murmur, prognosis or residual heart disease Increased CRP- Normal in anaemia, CHF Increased ASLO titre may be normal in chorea and in the early phase of disease & in chronic Carditis.

Supportive criteria

Jones Criteria & Interpretation Limitations Mild attack may not meet the criteria. - Minor criteria are weak criteria for diagnosis. - Other clinical conditions may meet the criteria ( Rheumatoid arthritis ) i.e. overlap of symptoms and signs between autoimmune diseases & ARF Medications like aspirin may suppress full clinical manifestions and alter laboratory data. Arthralgia and increased PR interval cannot be taken as minor criteria when arthritis and carditis are major criteria respectively.

59

Mitral stenosis
Pathology Symptoms Grade I- Asymptomatic with no s/o MS Grade II Dyspnoea on exertion with s/o MS Grade III Dyspnoea at rest /intractableCHF Signs Mild MS Thickened mitral cusps , fusion of valve commuissures , shortening and fusion Chordae. Dyspnoea , orthopnoea, PND ( due to interstitial pulmonary edema , decreased compliance , of the lungs , increased left atrial pressure ( LAP) & Acute pulmonary edema causes sudden tachycardia & tachypnoea. Hemoptysis due to ruptured bronchial vessels (LAP) CHFright sided due to increased LAP pulmonary venous pressure PAH Loudness of S1 Distance between S2 and O.S Length of diastolic murmur Mid diastolic Mid diastolic with pre systolic accentuation Pan diastolic Loud P2 Severe MS DD: 1) Congenital MS 2) Left atrial myxoma 3) Cortriatriatum ECG- 1) P mitrale in lead II broad bifid P wave in II and AVF . In V1 P wave will negative terminal portion 2) RVH X ray Left atrial enlargement straightening of left heart border Increased pulmonary artery size - Rt ventricular enlargement

right ventricular decompensation TR Palpation Small peripheral pulse -, PMI in mid clavicular line , Right ventricular heave suggest PH, apical diastolic thrill Auscultation Loud S1, - due to abrupt closure of mitral cusps Opening snap due to sudden tensing of the funnel shaped mitral valve in diastole ( S2 OS indicates severity of MS low pitched apical diastolic murmur due to turbulent heard with bell of stethoscope in left lateral position Rumbling , blood flow best between

through stenosed Mitral valve . Presystolic accentuation

apex and left lateral border.Loud pulmonic component of S2 PH. Pan systolic murmur of tricuspid incompetence in severe PH Extra cardiac findings : Distended neck vessels, hepatomegaly and peripheral edema. Treatment : Medical 1)Treatment of CHF 2) Penicillin & Infective endocarditis prophylaxis Surgical : Mitral valvotomy-Indications Symptomatic MS M.S with pan diastolic murmur M.S with PH EF slope on M mode < 50 mm

60

Mitral Incompetence
Pathology Pathophysiology Abn. Coaptation of the mitral leaflets creating regurgitant orifice during systole. Systolic gradient between LV and LA is the diving force of the regurgitant flow. Four hemodynamic consequences- 1) volume overload on LA and LV 2) Left atrial hypertension 3) Reduction in LV forward stroke volume and cardiac output 4) Progressive reduction of left ventricular function. Symptoms &Signs Severity Mild Systolic thrill + Murmur intensity + S3 + Diastolic rumble + Severe PH Differential diagnosis : 1. Ostium primum with cleft of mitral valve 2.Mitral valve prolapse 3.Dilated cardiomyopathy 4. Myocardial disease seen in GSD, endocardial fibroelastosis. 5.Systemic diseases Marfans syndrome 6.Infective endocarditis 7.Acute rheumatic carditis ECG LAE LVH X ray Cardiomegaly Easy fatiguibility 2) Palpitations 3) Effort dyspnoea4) Congestive heart failure. BP - Normal / wide pulse pressure/ regular pulse - ankle edema if CHF. Palpation laterally displaced diffuse thrusting apex beat ( enlarged LV ) 2) Apical systolic thrill 3) Left parasternal heave - late systolic left atrial lift. Auscultation- 1) S1 normal in intensity or soft often merged within pansystolic regurgitant murmur.2)S2 normal and split 3) S3 produced due to rapid ventricular filling 4 ) Hallmark of MR is holosystolic murmur blowing in character and radiating to axilla 5) Diastolic rumble due to increased blood flow across the mitral valve 6) If PH loud S2. Treatment : Medical : CHF : Infective endocarditis prophylaxis : Rheumatic fever prophylaxis Surgical Indications: symptomatic patients- (DOE, pulmonary edema),atrial fibrillation , thromboembolic phenomenon & hemoptysis Mitral valve repair closed balloon / Closed mitral Commusirotomy-CMC ( for pliable valves) and for calcified Valves and adults . Mitral valve replacement for calcified valves with MR with Biological/ bioprosthetic - Homograft Human cadaveric/ Heterograft procine / bovine valve. (Advantage: Do not req. anticoagulation , but tend to deteriorate rapidly in the young) Mechanical Prosthetic valves (Adv- Longer durability but require long term anticoagulation and have risks of bleeding, thrombus formation & mechanical dysfunction. Open

61

Aortic incompetence
Pathology Pathophysiology Postinflammatory scarring of aortic cusps Regurgitant flow cause volume overload of left ventricle left ventricular dilatation and hypertrophy which permits most patients to remain symptom free .As lesions progresses decompensation occurs and patient becomes symptomatic. Signs : Collapsing pulse De mussats sign nodding of head with each pulsation Corrigans sign prominent carotid pulsations in the neck Locomotor brachialis prominent radial artery in the arm Quinckes sign visible capillary pulsation in nail bed Durozies sign femoral artery if compressed , proximally a diastolic murmur is heard due to diastolic retrograde flow Pulsatile retinal vessels ECG- LVH X ray Cardiomegaly Differentiate MS murmur flint O.S + Loud S1 + S3 LV dilation RV dilation + Austin + + -Treatment : Severity of AR-Mild /Moderate /Severe/Very severe Symptoms-No/No/Nil or present/Severe LV functions Normal/Normal/Depressed/Severely Depressed Management-Nil/ Vasodilator therapy/Valve replacement/ Medical therapy followed by surgical therapy. Differential diagnosis : 1) PDA 2) VSD with AR 3) Reduced peripheral resistance AV fistulae , anaemia , hyperthyroidism (only peripheral signs but no murmur) Large volume Pulse water hammer pulse due to combination of large forceful left ventricular ejection volume in early systole followed by regurgitant flow in early diastole. BP- wide pulse pressure Inspection precordial fullness , apex displaced to left and down Palpation area of PMI- midclavicular line suggestive of LVH Auscultation 1) S1, S2 are normal 2) Diastolic murmur best heard with patient sitting and bending forward. Heard well in expiration over mid sternal area or lower left sternal border.- High pitched blowing in character (listen for absence of silence in early diastole) 3) mid diastolic mitral murmur ( Austin Flint) 1) Palpitation on exercise or at rest due to left ventricular enlargement 2) Effort dyspnoea 3) Chest pain / angina due to poor coronary perfusion 4) CHF

Combined Valvular lesions

The clinical presentation and natural history of combined lesions is determined by the relative severity of each individual lesion and chronicity and order of develop. The Common combined lesions are : MS with MR : MS with AR : MR with AR 62

Mitral stenosis with Mitral regurgitation

Clinical Findings Predominantly MS Presenting Symptoms Clinical Signs Pulmonary findings Easy Fatigability Parasternal Lift S1 Prominent apical impulse Prolonged diastolic murmur S3 ECG LVH RVH X ray Lt atrium Lt ventricle 2 D Echo Mitral Leaflet thickening Concentric left ventricular hypertrophy Hyperkinetic LV -+ + + -+ Loud -+ --+ + -+ -Balanced lesion + + + + + + -+ + + + + + -+ Peaks at end systole Soft + -+ + -++ ++ + + Predominantly MR

Aortic regurgitation with Mitral Stenosis

Clinical Findings Presenting Symptoms Anginal pain ( Chest pain) / Palpitations Effort tolerance Pulmonary symptoms Clinical signs Wide pulse pressure Parasternal lift Prominent apical impulse Loud S1 S3 or S4 Effect of squatting/ hand grip on diastolic murmur ECG Xray 2 D Echo RVH LVH LV Dilatation RV dilatation
Left ventricular hypertrophy & Hyperkinetic LV

Predominant R

Balanced A Lesion +

Predominantly MS -+ + -+ -+ -Decreased

+ + --

+ + +

+ -+ __ + Increased

+ + + + Increased or decreased +

+ --+ --

-+ + -+

+ + + +

63

Aortic Regurgitation with Mitral Regurgitation

Clinical findings Presenting symptoms Angina( chest pain) Easy Fatigability Pulmonary symptoms Wide pulse pressure Signs Parasternal lift Diastolic murmur Systolic murmur S4 ECG LVH LAD X ray LV dilatation LA dilatation Echo LV hypertrophy and hyperkinesis Predominant AR + + -+ -+ + + + -+ + + Balanced Lesion + + -+ + + + -+ + + + + Predominant MR + + + + -+ _ + + + + +

Treatment 1. Bed rest & Treatment of CHF- duration of bed rest depends on type and severity of manifestations ESR & Sleeping pulse rate could be a guide. 1) Treatment of IE and prophylaxis for IE. 2) Nutritional- High calorie, salt restricted diet & fluid restriction. 3) Elimination of streptococci - penicillin prophylaxis 5) Anti-inflammatory agents Aspirin, steroids Aspirin 100mg/kg/day tapered to 75 mg/kg/day for 4-8 weeks Steroids 2 mg/ kg/ day in three divided doses tapered to 1.5mg/ kg/day after 2-6 weeks depending on severity of carditis.
Pan carditis Carditis + CHF Carditis + Cardiomegaly Definite steroid Zone 2mg/kg/day TDS -for4-6Wks Intermediate Zone either /or Definite Aspirin Zone 100 mg/kg/day QDS 4- 6 weeks Carditis + murmur only tachycardia without cardiomegaly Arthritis

Prophylaxis Primary prevention of streptococcal pharyngitis 10 day

Secondary prevention - 0.6 megaunits - 1.2 megaunits of benzathine penicillin every third week (Alternative -oral penicillin 250 mg bd , sulphadiazine 1 gm OD, or erythromycin 250 mg bd ) Tertiary To prevent CHF in a child with known RHD, timely surgery if required to prevent further complication of disease process.

64

Infective endocarditis : Any heart condition with abnormal blood flow from high pressure
area to low pressure area.require infective endocarditis prophylaxis eg . LV LA- mitral regurgitation (MVP) , LV Aorta- ( Aortic stenosis ) , LV RV- ( VSD ) or Aorta- PA ( PDA)

Classic Tetrad of clinical featuresInfection Fever with rigors Arthralgia Splenomegaly Anemia Heart disease Valvular/ shunt lesion Clubbing Murmur S/o CHF Embolism Brain- stroke Kidney RBC in urine Liver - icterus Immunological Splinter haemorrhages Petichae Oslers nodes Janeway lesions Roth s spots.

Indications of endocarditis prophylaxis

Minimum risk ASD MVP with our MR Post VSD repair Post PDA ligation Moderate Risk All CHD except Ostium Secundum ASD All acquired Valvular heart MVP with MR. HOCM Post palliative or corrective surgery Standard prophylaxis Single dose peniciilin or ampicillin oral 60 min before surgery IM- 30 min before surgery IV at beginning of surgery diseases High Risk Valve prosthesis, Homografts Conduits ,Operated AS After an episode of Infective endocarditis High risk Prophylaxis- IV 1 st dose- 30 min before surgery2 nd dose- 8 hrs after surgery 3rd dose 16 hours after surgery

65

PROTEIN ENERGY MALNUTRITION (PEM)

PEM is a symptom complex of diverse etiology and single etiopathogenesis. The child presents with failure to gain in weight with or without short stature. Presenting complaints
Poor gain in weight / height

Associated complaints
Vomiting, loose motion Cough, breathlessness, cyanosis Difficulty in feeding, suck-rest-suck cycle Polyuria, Polydypsia Recurrent infections

Birth History
Age of expectant mother Maternal nutritional status Birth order, Birth weight Prematurity IUGR Perinatal complications

Dietary history
Calorie intake / day Protein gms / day Accurate assessment is difficult and good rapport with mother Assessment is done by a 24 hr recall method or a food frequency table, diet during illnesses Calculate calories and protein and calculate the calorie gap and protein gap as compared to ICMR recommendation

Balanced Diet
50 55% of total cal intake from carbohydrate 10 15% of total cal from protein 25 30% from fats

H/O Breastfeeding ( to be taken in detail in infants ) Time of initiation, duration, adequacy of breast milk. Breastfeeding to be continued till two years of life. Breast milk is more advantageous as it is physiological, convenient, economical, with optimum fluidity and warmth, besides being bio-chemically superior, microbiologically sterile, immunologically safe, with psychological benefits of ensuring mother-infant bonding. Epidemiologically breastfeeding decreases morbidity and mortality. 66

H/O Artificial / Top feeding

- Considered when either the mother is unavailable, critically ill or no more. - Formula feeding / cows milk -Dilution , bottle feeding. Over dilution and infection due to contamination are common causes of malnutrition H/O Weaning. Weaning (meaning to accustom to ) / Complimentary feeding is started between 4 6 months of age. Breastfeeding must be continued during weaning. Preparation and storage of weaning foods should be done under hygienic conditions.

To prevent malnutrition the Three plank protein bridge by Jelliffe to prevent PEM
Continue breastfeeding Introduce Veg proteins Introduce animal proteins

Besides supplementary feeding, group eating and small frequent feeds. SOCIO-ECONOMIC HISTORY
Education of parents, occupation Monthly income, Housing, Sanitary facility Family size Toilet habits Safe drinking water Availability of electricity, recreation facility Kuppuswami scale class I to V Closely spaced families, Working mother.

Psychosocial history Cultural practices

On Examination

Anthropometry
1. Weight Beam balance, electronic scale - simplest, most widely used, most reliable. 2. Height Infantometer, stadiometer 3. US : LS ratio 4. MAC between 1 5 yrs of age, done on left arm midway between acromion & olecranon. (<12.5 cms severe PEM, 12.5 13.5 moderate PEM, >13.5 normal ) Not a good parameter for growth monitoring during 1 5 yrs of age. 5. Head circumference maximum occipito frontal circumference 6. Chest circumference 7. Skin fold thickness 67

8. Somatic quotient average of Wt, Ht head circumference, MAC expressed as % age of expected

Age independent anthropometric indicators

1. The Bangle test inner diameter of bangle of 4 cms crosses above elbow 2. The Shakirs tape green (13.5 cms), yellow ( 13.5 12.5 cms), red ( < 12.5 cms) 3. The Quac stick Quackers arm circumference stick 4. Modified Quac stick 5. The Nabarrows thinness chart 6. The head circumference to chest circumference ratio ( > 1 normal) 7. MAC to height ratio ( < 0.29 severe PEM , 0.32 to 0.33 normal ) 8. MAC to head circumference ratio 0.28 0.31 mild PEM - 0.25 0.279 moderate PEM - < 0.249 9. Ponderal index ( Wt / Ht3 ) > 2.5 2.0 2.5 < 2.0 10. Dughdales ratio ( Wt / Ht1.6 ) 11. Quatelet index ( Wt kg / Ht2 cm) X 100 12. BMI (Wt kg / Ht2 m) 13. Mid arm muscle circumference - MAC ( 3.14 X SFT) cm > 0.79 < 0.79 > 0.15 - severe PEM - normal - borderline PEM - sever PEM - normal - malnutrition - normal

Classification of PEM
(I) IAP classification (1972) N I II III IV > 80 % (Wt for age expected) 71 80 61 70 51 60 < 50 %

(II) Welcome Trust classification ( Boston Standard) Wt for age ( % of Exp.) 60 - 80 60 - 80 < 60 < 60 Oedema + + Type of PEM Kwashiorkor Under weight Marasmus Marasmic Kwashiorkor

(III) Gomez classification

Normal > 90 % 75 90 60 75 < 60 % 1st deg PEM 2nd deg PEM 3rd deg PEM -

68

(IV)

Classification as per height for Age and Weight for age Ht for age Wt for age Ht for age Normal 1st deg Stunting 2nd deg Stunting 3rd deg Stunting Wt for age Normal 1st deg Wasting 2nd deg Wasting - Waterloos classification McLareins classification Waterloos > 95 90 - 95 85 - 90 < 85 Waterloos > 90 80 - 90 70 - 80 < 70 Ht for age Normal Stunted Wt for age Normal Wasted McLareins > 93 80 - 93 < 80 McLareins > 90 85 - 90 75 - 85 < 75 HA & WH Normal Stunted & Wasted

3rd deg Wasting (V) WHO classification > - 2 SD < - 2 SD

Spectrum of PEM
Kwashiorkor / Marasmus / Marasmic Kwashiorkor / Pre-Kwashiorkor/ Nutritional dwarfing / Underweight /Invisible PEM

Clinical Signs
Growth retardation Hair changes Lack luster, thin , sparse ,Flag sign - Hypochromotricia , Easily pluckable Skin changes-Hypo-pigmented, Hyper-pigmented, erythematous, jet black - Flaky paint dermatosis , Crazy pavement dermatosis Xerosis, hyperkeratosis - Eye Signs.- Pallor, xerosis, bitot's spot ,angular palpebreitis. Mucosal changes- Glossitis, Stomatitis, chelosis Glands. -Parotid, thyroid gland enlargement Hepatomegaly Purpura or Bleeding Oedema mooning of face Mental changes Irritability, apathy Tremors appear during treatment

Investigations
Hb, CBC, Platlet count, Priferal serum, RBS, BUN, S electrolytes, S protein, Alb, CXR, MT, Urine R & CS, LFT, RFT, CSF

Management 4 STEPS
Resuscitation, Hospital care Restoration, 69

Rehabilitation Prevention care

Resuscitation.. Treat medical emergencies What emergencies? Hypothermia, hypoglycemia, electrolyte disturbance, sepsis , shock, dehydration, cardiac failure, Anemia Restoration. Achieve weight for height - How? 150-200Cal/actual weight , 3-4gm protein/actual weight , 150-165 ml fluid/ actual weight and Multivitamins and minerals Given as 2hrly feeds with a feed late night and early morning -Oral or gavage feeds What type of feed? Breast feeds, High energy milk Isodense formulas ,Hyderabad mix, amylase rich food, Cereal pulse mix Rehabilitation Allow RDA as per ICMR recommendations Supplementary through various national nutrition programmesICDS Growth monitoring Developmental stimulation Prevention Prevent LBW babies.Antenatal care & Care of adolescent girls NIMFES .. Nutrition, Immunization, Medical care, Family planning, Education, Stimulation NUTRITIONAL RECOVERY SYNDROMES Gynecomastia, Parotid swelling, Hypertrichosis, Hepatomegaly, Ascites, Spleenomegaly, Eosinophilia, "Kwashi shake" All are self limited but keep the baby under observation. Commonly asked questions Complications of PEM / Poor prognostic signs National programmes in nutrition Classifications of PEM Nutritional recovery syndromes Difference between marasmus / Kwashiorkor Diet chart for PEM

APPROACH TO A CHILD WITH RICKETS

70

Presenting symptoms Progressive bony deformity Bone pains, Fractures Seizures in young infants, Carpopedal spasm in older children Delayed dentition, dental deformities Proximal muscle weakness Delayed motor development Associated symptoms(etiology) Polyuria, polydypsia (Renal rickets, RTA) Recurrent diarrhoea , steatorrhoea ( Malabsorption..fat) Jaundice, distension abdomen (Chronic liver disease, Cholestatic jaundice) Pallor (Nutritional, Wilsons disease, Chronic renal failure) Visual problems (Lowes syndrome, Cystinosis) Alopecia - Patchy, totalis (Vit. D Dependent Rickets Type II) Hearing affection ( RTA) Recurrent respiratory infection Mental retardation Drugs ingestion- Anticonvulsants,anti tubercular drugs Antenatal history Calcium supplement in expectant mother Consanguinity (Autosomal recessive disorder) Preterm /Full term (Osteopenia of prematurity) IUGR (may manifest with rickets during catch up growth) Dietary history Breast feed/ top fed Vit D or Calcium supplement Weaning Balanced diet Exposure to sunlight Family history of similar complaints (X linked hypophosphatemic rickets) Examination Anthropometry - Short stature, Disproportionate short stature Bony features of rickets - Craniotabes (young infants), wide open / persistent open anterior fontanelle, fronto parietal bossing giving a hot cross bun appearance, rachitic rosary ,Harrison sulcus, pectus excavatum, widening of wrists, double malleolus, Bowing of long bones, genuvarus / genu valgus; coxa vera/ coxa valga deformity. Dental feature: Delayed eruption of teeth, dental abcess, pulp defects, dental problem usually affect the secondary detention. Muscle and ligament: Proximal muscle weakness causing waddling gait, difficulty in climbing stairs, difficulty in getting up squatting position. Visceroptosis, laxity of ligaments. 71

Associated problems: Pallor, Icterus, other vitamin deficiencies, hypertension, alopecia, hepatosplenomegaly, cataracts, glaucoma, sensorineural hearing loss. Investigations:1. S.Calcium, S.Phosphorous , Alkaline Phosphatase 2. S. Parathyroid hormone level 3. S. 25 hydroxy vitamin D level, 4. S. 1, 25- di hydoroxy vitamin D level Radiological features Characteristically seen at the epiphyseal ends of long bones. Cupping and fraying , delayed appearance of epiphyseal centers, cortical thinning, bowing of long bones and fractures are some of the features Investigations for secondary causes:RTA.Arterial Blood gas --for HCO3 levels with simultaneous Urine pH, S. Electrolytes. Hypophosphatemic Rickets.TmP GFR Malabsorption.Qualitative and quantitative fat estimation in stool. Renal failureS. Creatinine, Blood Urea , Urine Specific gravity. Hepatic. Liver function tests, S. Ceruloplasmin Biochemical abnormalities in various etiologies :Type Vit D def. Calcidiol def. VDDR II Fanconi XLH rickets Oncogenous MCAS Preterm Distal RTA Uremia Ca L L L N N N N N N V P V L L L L L L L N H Hco3 N N N L N N N N L L Calcidiol L N N N L N N N N L/N Calcitriol V L H L N L H/N L PTH H H H N/H N/H N N N/L H

L- Low, N-Normal, V Variable, H-High ; Def. deficiency; VDDR Vitamin D Dependent Rickets; XLH X linked Hypophosphatemic ; MCAS-McCune Albright Syndrome; RTA-renal Tubular Acidosis

Therapy

Nutritional rickets :
72

A consensus regarding the ideal protocol of treatment is lacking. VitD3 (cholecalciferol) is the preparation of choice in a daily dose of 1600-2000 untis/day. A large single dose of 6lac units ensures compliance but has the risks of causing hypercalciuria and nephrocalcinosis. It is a must to supplement calcium in a dose of 800mg/day in children and 1200mg/day in adolescents.

Rickets due to other causes need specific therapy.

Calcitriol deficiency - Calcitriol 1-3micgm/day Calcitriol resistance - 1.5-20micgm/day Hypophosphatemic rickets Soluble phosphate..1000 1500 mg of phosphorous daily 4 or more doses. Calcitriol 1-2 micgm/ day ( avoid hyperclacemia, hypercalciuria) RTA .Bicarbonate supplementation

73

APPROACH TO A CASE WITH SHORT STATURE

Short Stature (SS) is one of the common presenting symptoms in any pediatric outpatient clinics. Although everyone can observe a large amount of variability in the human population, many parents and their children want to conform to an idealized standard which has led to many referrals to pediatricians and pediatric endocrinologists. Fortunately majority of these children do not have an underlying hormonal or genetic disease. A child may be regarded as having growth retardation if his/ her height is Less than the 3rd percentile or 2SD below the mean for age of the population reference standard. Excessively short for the Mid-Parental Height (MPH) or Target height (TH) even if the height recorded is within the normal population percentiles for age. Demonstrates a growth velocity of less than 25th percentile on a velocity curve when assessed over a minimum period of 12 months. The control of the growth process is related to many complex interacting factors , including internal cues such as genotype, external factors such as nutrition and environment ,and internal signaling systems such as hormones and growth factors. As might be expected from the multiplicity of control mechanisms for growth , there are many causes of short stature. Normal growth velocity: Intrauterine period is the most rapid growth period. In the first year of life a child grows by 25cm, 12.5 cm in 2nd year, 6-7cm in 3rd & 4th year, 5cm per year from 5-9 years with a nadir of 3.5 cm per year pre pubertal. During pubertal growth spurt 10-30 cm height is gained, with peak growth velocity of 9-11 cm per year in boys and 7-9 cm per year in girls.Body proportions (upper segment: lower segment) change from 1.7 at birth to 0.98-1 by 13-14 years of age and to 1 in adult hood. CAUSES OF SHORT STATURE I. PHYSIOLOGICAL OR NORMAL VARIANTS Familial short stature (FSS) Constitutional delay of growth and puberty (CDGP) A. .DISPROPORTIONATE SS Rickets, Skeletal Dysplasia , Congenital hypothyroidism. B.. PROPORTIONATE SS . Prenatal Causes. IUGR , Dysmorphic syndromese.g. Russel Silver syndrome Chromosomal disorders.Downs syndrome, Turners syndrome Postnatal Causes Chronic anemia, Chronic renal failure, Chronic liver disease , Asthma 74 1. Systemic diseases

II . PATHOLOGICAL CAUSES

, Congenital heart disease 2. Chronic undernutrition 3. Endocrine causes i. Growth hormone deficiency (GHD) ii. Hypothyroidism .- congenital /Acquired iii. Cushings syndrome iv. Diabetes mellitus v. Pseudohypoparathyroidism 4. Psychosocial dwarfism Idiopathic

EVALUATION OF A CHILD WITH SHORT STATURE (SS) The key to initial evaluation of SS is the history , determination of auxological parameters and detailed clinical examination. Thus the approach to short stature must be a careful balance designed not to miss pathology disorder without over evaluation. Facts to be elicited in the history (Etiology) Ante-natal History Substance abuse, Medication, Infections (IUGR) Birth History -- Birth weight /Gestation age ( IUGR) H/O birth asphyxia ( Hypopituitrism), Breech delivery, Neonatal hypoglycemia (GHD) Prolonged neonatal hyperbilirubinemia (Hypothyroidism) Developmental milestones . (Hypothyroidism ,chromosomal/genetic cause) Symptoms pertaining to illness Shortness of breath, cyanosis, cough, fever, (Heart disease, asthma,TB) Diarrhoea, Steatorrhoea, Abdominal pain (Malabsorption) Head ache , vomiting, visual problems ( Pituitary hypothalamic mass) Constipation, lethargy, feeding difficulty (.Hypothyroidism) Polyuria ,(.RTA, Chronic renal failure ) H/O Hepatitis, distension abdomen, malena (Chronic liver disease ) Recurrent blood transfusions ( Thalassemia and other chronic anemias) Dietary history .. to elicit weaning practice, calorie and protein intake Drug history .. prolonged use of corticosteroids, amphetamine derivatives. Family history of SS in first /second degree relatives (FSS), Delayed puberty in one or both parent (CDGP) Social history .. child abuse, family discord, emotional deprivation (Psychosocial dwarfism) ANTHROPOMETRY .. Measurement is the basis of growth assessment. Measurements made accurately and precisely and interpreted correctly are more specific and more sensitive than analyses of single hormone concentrations in children.The measurements must be made on appropriately designed equipment and it is ideal to have the same person taking the readings to eliminate interpersonal errors. 75

Parameters .. 1. Height (cms) For children < 2yrs of age supine length (TL) should be measured on an infantometer and two personnels are required to make an accurate measure. For children >2yrs of age standing height is measured on stadiometer. Plot the value on a reference curve. Calculate the height age ( the chronological age at which this measurement of height is on the 50th percentile of reference curve) Correlate the height to MPH range in children more than 2 yrs of age. Mid Parental Height (MPH) or Target Height (TH) range is calculated as in Boys MPH range = {(Fathers height + (Mothers height+13)) / 2}+/-8.5cm Girls .MPH range= {((Fathers height 13) + Mothers height ) / 2}+/-8.5cm 2. Body proportions US : LS ratio :: Vertex to pubis: Pubis to sole of foot. (Normal .At birth-1.7:1, At 3yrs-1.4:1,At 5yrs-1.3:1,At 6yr 1.2:1, At 8yrs-1:1, At10yrs-0.98:1) Lower segment longer than the upper segment by more than 5cms after completion of puberty is considered disproportionate. Arm span : Total height . Arm span is usually within 5 cm of the height. which need to be measured Clinical examination features and Etiology Dysmorphisim , congenital malformation-Genetic syndromes Midline defects, Single upper central incisor, Micropenis GHD, Hypopituitarism Signs of vitamin deficiencies Malabsorption , Rickets Jaundice , clubbingChronic liver disease Pallor Chronic anemia, Renal failure, Liver disease Central obesity, striae, proximal weakness- Cushings syndrome Hypertension Chronic renal failure Goitre, coarse & dry skin, delayed relaxation of tendon jerks Hypothyroidism Round face, short 4th metacarpal Pseudohypoparathyroidism Pubertal staging delayed puberty Webbed neck, wide spaced nipples, increased carrying angle in a short girl Turners syndrome LABORATORY INVESTIGATIONS Study of the growth chart Bone age Xray left hand wrist to tips of fingers (assessed by Atlas or Scoring method) Counting the number of carpal bones is an inaccurate method of calculation of bone age and should not be attempted. Screening tests 76 3. Weight, Head circumference ,Chest circumference are other parameters

Hemogram Hb, CBC, ESR , Periferal smear examination S. creatinine, S. Calcium, S. Phosphorous, Alk PO4. SGPT, S. Proteins , RBS, Blood gas analysis, S. Electrolyte Urine examination routine & microscopic Stool examination for ova & cysts Karyotyping if suspected Turners syndrome . Hormone studies ( if indicated) Thyroid profile, Provocative tests for growth hormone assay IGF1 , IGFBP3 as screening test for GHD (if available) Indications for hormone studies Subnormal growth velocity Markedly stunted height Height below MPH range Retarded bone age Other causes of pathological SS ruled out. MANAGEMENT : Counselling .Irrespective of the presence of underlying cause to SS. Avoid negative comparisons between siblings/ cousins/peers. Exercise should be encouraged. Balanced diet with recommended daily allowances of vitamins and minerals should be emphasized. In some cases of CDGP who are psychologically disturbed due to delay in puberty , a short low dose of testerone or estrogen may be given GH therapy is not indicated clinically in the absence of GHD. Limb lengthening surgeries in achondroplasia can be considered under an orthpedic surgeons care. SOME COMMON CAUSES OF SHORT STATURE Familial Short Stature(FSS) Commonest cause of SS Short child of short parents Ht <3rd percentile but within MPH range Growth curve runs parallel to the 3rd percentile US/LS normal for age Bone Age (BA ) = Chronological Age (CA) > Height Age (HA) Attains puberty at appropriate age Adult stature below 3rd percentile
Buccal smear is unreliable and should not be used to diagnose Turners syndrome.

Single basal GH level has no diagnostic value and should not be done.

Constitution Delay in Growth & Puberty(CDGP) Second common cause of SS More frequent in boys than girls 77

Born with normal weight and length. Growth falters around 2 yrs of age and Ht falls <3rd percentile for age Follows a curve parallel to 3rd percentile through out childhood US/LS normal to eunuchoid. HA = BA < CA Onset of puberty and adolescent spurt is delayed Family h/o delayed puberty in one of the parent may be present Adult stature is normal.

Child referred for growth retardation

Ht.,US:LS, Wt, growth charting, mid-parental height. History and examination

Normal

Short Clues to etiology from history/examination

Reassure and advise routine height and weight yearly by pediatrician Confirmatory test and treatment Borderline stature Significantly and / or normal bone age Observe growth velocity for 1 year short and / or delayed bone age Present Absent Bone age

Normal

Abnormal Screening Investigation

Physiological short stature Abnormal Normal Karyotype in girls Tests for GHD, RTA and malabsorption Reassure and advise routine height and weight yearly by pediatrician Treat the cause FLOWCHART FOR EVALUATION OF GROWTH RETARDATION Idiopathic short stature Treat the cause Abnormal Normal

78

DIAGNOSTIC APPROACH TO AMBIGUOUS GENITALIA.

A child born with ambiguous genitalia constitutes a medico-social emergency and a multidisciplinary team constituting a pediatric endocrinologist, pediatric surgeon and a psychologist has to be convened. The initial goal is to assign the sex of rearing as quickly as possible and the ultimate aim is to reach a definitive diagnosis. What constitutes ambiguous genitalia: 1. 2. 3. 4. 5. 6. Severe hypospadias with no gonads palpable Severe hypospadias with one gonad palpable Severe peno or perineoscrotal hypospadias with both testis descended. Micropenis with no gonads palpable Phenotypic female with mass palpable in groin or labium majora. Phenotypic female with clitoral enlargement

History: Age of onset present since birth,(disorders of sexual determination and differentiation) Associated complaintsdifficulty in passing urine, problems of urinary stream (hypospidias) Hyperpigmentation (CAH), Failure to thrive, vomiting (CAH) Polyuria, polydypsia, salt craving (CAH), Anosmia(Central hypogonidism), Mental subnormalcy (syndromic forms), inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome) Consanguinity (autosomal recessive disorders) Family history of similar disorders, unexplained sibling deaths (CAH), anosmia (central hypogonadism), infertility, hirsutism (CAH,hyperandrogenism), menstrual irregularities, genital anomalies (dysmorphic syndromes) , inguinal hernias with prolapsed gonads (Androgen insensitivity syndrome) Antenatal history :Drugs or hormone use (phenytoin inhibits 5 alpha reductase, progestins cause hypospadias), Androgen producing tumours, virilization, Natal history .. Full term / Preterm ( 3.5% term male and 20% preterm can have cryptorchidism) Birth weight (IUGR) On Examination:Anthropometry Weight, Height, Surface Area, BMI ,Body proportion Look for failure to thrive (CAH) , short stature (central hypogonadism) Hyperpigmentation Look at genitals, linea nigra, areola, axilla, knuckles, flexures. Dysmorphic features Syndromic Forms Denys Drash, Goldenhar, Smith lemli opitz, Frasier, 79

Robinow,VACTERL, Ellis van Creveld, and many more Chromosomal anamolies Trisomy 13,Trisomy 18, Triploidy 4p-,13q- and many more Examination of genitals Are gonads palpable .Unilaterally or bilaterally or none Palpable gonads- mobile oval masses palpated below the inguinal ligament are testes until proved otherwise.(Federmans rule). 1. 2. 3. 4. 5. 6. Evaluate for size, texture, presence of epididymis Number of openings ..Single or two Fusion of labioscrotal folds .Complete or partial Scrotum well developed or poorly developed Phallic length and breadth, Glans well formed / poorly formed. Palpable gonad in inguinal swelling in a female Hyperpigmentation

Assessment for presence of mullerian structures Per rectal examination needs experience Pelvic ultrasound Look for uterus and ovaries

Hormonal evaluation ( as indicated) 8:00 am - S.17 hydroxyprogesterone , S.Electrolytes, .CAH The integrity of the hypo- pit- gonadal axis by measuring LH, FSH, Testosterone (T) , Dihydrotesterone (DHT), HCG stimulation test with T/DHT ratio (in 5 alpha reductase deficiency) Karyotype to ascertain the genotypic sex. ImagingUSG pelvis to determine presence of internal organs and undescended testes. Genitogram with retrograde contrast media , MRI. Laproscopy and Gonadal Biopsy- definitive gonadal diagnosis Enzymatic assays - skin fibroblasts for 5 alpha reductase deficiency and AIS. Molecular biology- for specific mutations

80

DIAGNOSTIC INTERPRETATION OF CLINICAL FINDINGS IN AN INFANT WITH AMBIGUOUS GENITALIA Congenital Partial Adrenal Hyperplasia Clinical Findings Genitalia symmetrical Hyperpigmentation Gonad(s) palpable Uterus present Dysmorphic facies Systemic illness Positive family (CYP21) + + + +/Siblings Androgen Insensitivity Syndrome + + Sibling, uncle, XY Gonadal Dysgenesis True herm + +/+/Sibling Testosterone Biosynthetic Defect +/+/+ +/Sibling

history or aunt + = present; - = absent; +/- = present or absent. INVESTIGATIONS FOR AMBIGUOUS GENITALIA Features Identified No gonads palpable Uterus present (digital examination or ultrasound); Hyperpigmentation Gonad(s) palpable; No mullerian structures Affected sibling, uncle, or aunt Asymmetrical labioscrotal folds Gonad(s) palpable; Mullerian structures present Mixed gonadal dysgenesis True hermaphroditism Partial AIS defect. Differential Diagnosis CAH Most Appropriate Tests Serum 17-OHP Electrolytes, glucose Karyotype Sinugram Karyotype hCG stimulation test Pelvic ultrasound Urogenital sinugram Karyotype Gonadal biopsy Pelvic and abdominal ultrasound Albuminuria,,BUN,

(21-OH D./ 11beta-OH Def.)

Testosterone biosynthetic

Dysmorphic features Electrolytes CAH = Congenital adrenal hyperplasia; AIS = androgen insensitivity syndrome; hCG = human chorionic gonadotropin.

BRONCHIECTASIS

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Bronchiectasis is a disease characterized by abnormal irreversible dilatation of the bronchial tree associated with recurrent infections and likely represents a common end stage of a number of non-specific and unrelated antecedent events. HISTORY: PRESENTING COMPLAINT: Patients typically present with fever, chronic cough, purulent sputum, weight loss and loss of appetite. A) RESPIRATORY SYSTEM SYMPTOMS o Impaired exercise tolerance o Cough-frequency/severity/nocturnal/exercise induced/change in pattern. o Sputum-volume/color/blood tinged/recent change o Fatigue/Dyspnea/Chest pain o Chronic sinusitis o Wheezing might point towards allergic bronchopulmonary aspergillosis o Bronchodilators required and response to their use PAST COMPLICATIONS: pneumothorax/hemoptysis INVESTIGATIONS DONE: Sputum culture, chest x-ray, pulmonary function tests, pulse oximetry. THERAPY RECEIVED-exercise, physiotherapy, nebulised saline, bronchodilators or antibiotics. B) GASTRO INTESTINAL SYSTEM: Generally GI symptoms are present in cystic fibrosis or in IgA deficiency. Liver is affected in alpha 1 antitrypsin deficiency. History of weight loss/pain abdomen/vomiting/loss of appetite History of oily, bulky or offensive stools. History of meconium ileus or rectal prolapse

C) Recurrent pyogenic infections are suggestive of immunodeficiency. Recurrent middle ear infections are suggestive of ciliary dyskinesia or immunodeficiency. FAMILY HISTORY: History of tuberculosis or cystic fibrosis in the family. IMMUNIZATION: History of receiving BCG or measles or pertussis vaccine. EXAMINATION: A) General Examination a) Pubertal status (Tanner staging) - A delay in puberty may be seen. b) Nutritional status c) Parameters Weight, height, head circumference, percentiles. d) Vitals- Pulsus paradoxus (severity of airway obstruction) 82

Pulses Alternans (congestive cardiac failure) Bounding pulse (hypercarbia) e) Look for clubbing/ cyanosis/ icterus f) Ears Secretory otitis media g) Nose Nasal polyps h) Mouth- cyanosis/thrush B) Affected system RESPIRATORY SYSTEM Note the increase in AP diameter. Cough-Moist/productive/ foul smelling Perform peak flow measurement if possible. PalpationMeasure the AP diameter (hyperinflation), Tracheal position, position of apex, palpable pulmonary valve closure Percussion- Hyperinflation /consolidation Auscultation- Coarse leathery crepts over the affected region (First heard in the upper lobes in cystic fibrosis) Wheeze may be present Loud second heart sound in pulmonary hypertension Gallop rhythm in cor pulmonale Dextrocardia in Kartagener syndrome C) GASTRO INTESTINAL SYSTEM Inspection Distension of abdomen Prominence of veins Tanner staging Striae (corticosteroids) Palpation- Liver may be pushed down because of chest hyperinflation Hepatomegaly Splenomegaly Ascites (fluid thrill/shifting dullness) DIAGNOSIS: Recurrent pulmonary infections and persistent productive cough are historic hallmarks of the disease a) HRCT is the procedure of choice. It shows dilated thickened bronchi extending into the periphery of the lung and may be accompanied by the pulmonary artery giving a signet ring appearance. To establish anatomic diagnosis, HRCT has replaced bronchography as the procedure of choice. b) CONTRAST BRONCHOGRAPHY It remains the most sensitive method for determining the presence and exact anatomic distribution of bronchiectasis. It is indicated for the detection of persistent segmental atelectasis refractory to chest physiotherapy and lesions obstructing the airway. Its use is very limited. 83

Inspection-

c) CHEST X-RAY Typical findings include Increased bronchopulmonary markings and opacification of the affected area. Localized atelectasis/consolidation. Honeycombing.

d) BLOOD - Serum immunoglobulin (IgG & IgA) -IgG deficiency is a treatable cause of bronchiectasis Sweat chloride testing Alpha 1 antitrypsin measurement Polycythaemia (chronic hypoxia)/Anemia (chronic infection)

e) PULMONARY FUNCTION STUDIES-Spirometry demonstrates obstructive pattern & in advanced disease both obstructive and restrictive pattern is seen. f) BLOOD GAS ANALYSIS g) SPUTUM Stain and culture for mycobacterium tuberculosis Mucoid strains of pseudomonas aerogenosa are seen in cystic fibrosis. Aspergillus in allergic bronchopulmonary aspergillosis. h) BRONCHOSCOPY-This procedure is indicated for Bronchoalveolar lavage (bacterial fungal cultures) Endobronchial foreign body Detection of persistent atelectasis.

MANAGEMENT: Prognosis depends on the cause. If treatable then treat the cause. Chest physiotherapy and postural drainage are the mainstay of therapy. Bronchodilators Prompt and judicious use of antibiotics during exacerbation. Intravenous immunoglobulin in hypogammaglobulinemia. Surgical resection if the disease is progressive and localized.

HEPATOSPLENOMEGALY WITH ANEMIA

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HISTORY: Informant being-----------, name, a ------ yr old------ child, born of a consanguineous/ nonconsanguineous marriage, residing at-----------, belonging to----------- community was brought to this hospital------- days ago with Chief complaints: Abdominal distension : Abdominal lump : Associated with lump elsewhere H/o Icterus, pallor, petechie, purpura. H/o anorexia, nausea, vomiting, dysphagia, diarrhea, constipation, clay colored stools, worms, mucus in stools. Onset, duration, progress of the chief complaints should be enquired into. No h/o Kochs/ Kochs contact or swelling of PPD given in hospital. No h/o chronic fever with rigors (Chronic malaria/ Kala Azar) No h/o jaundice in the past, hematemesis / malena / hematochezia / dilated veins on abdominal wall (portal hypertension) No h/o umbilical catheterization/ History /s/o umbilical sepsis in neonatal period (Extrahepatic portal hypertension) No h/o altered sensorium/ unconsciousness/ coma/ convulsions (hepatic encephalopathy) No h/o blood transfusions, other sibs affected (Hepatitis B/ Hepatitis C / Chronic hemolytic anemia) No h/o petechie, purpura/ ecchymosed (leukemia/ hypersplenism) No h/o breathlessness/ edema feet/ increased precordial activity/refusal to feed (CCF) No h/o delayed milestones/myoclonic convulsions/incoordination (storage disorder- Niemann-Pick disease, Gauchers) No h/o defective vision/ hearing (Mucopolysacchridosis, Osteopetrosis) No h/o fever / rash in mother during pregnancy (intrauterine infection) No h/o fractures (Osteopetrosis)

EXAMINATION: Patient is conscious, irritable. Vital signs. Anthropometry measurements with percentiles. Abdominal girth (in c/o ascites) PRESENCE/ABSENCE: pallor, icterus, cyanosis, clubbing, significant lymphadenopathy, edema feet, increased JVP (CONSTRICTIVE PERICARDITIS) Look for platynychia/koilonychia, petechie, purpura/ ecchymosis, xanthomas, pruritus marks, hemolytic facies, and phylecten. Signs of liver cell failure 85

Genitals BCG mark, PPD mark, abdominal tap mark, liver biopsy mark, SPG mark. Skull/ spine Dental cavity- dentition, fetor hepaticus SYSTEMIC EXAMINATION

Abdominal system: INSPECTION: Abdomen is round in shape, distended with everted stretched umbilicus with fullness in flanks. There are no scars, abdominal tap marks, liver biopsy, SPG marks, sinuses or dilated veins. Hernial orifices and genitalia are normal. PALPATION: There is edema of abdominal wall/ doughy abdomen. Superficial palpation: tenderness/guarding/ rigidity. Deep palpation: Liver-----enlarged-------cms in Right midclavicular line and ---------cms in midline below the xiphisternum; upper border of liver dullness is in--------- Right Intercostal space; span------cm. The edge is sharp/ round/ leafy. The surface is granular/ lumpy/ tender/nontender. Consistency----soft/firm/hard. Moves with respiration. Pulsations-Rub/bruit over the liver. SPLEEN is--------cm from the left subcostal margin; is non tender; smooth in consistency; soft/firm or hard; anterior notch is felt; there is/ is no bruit. PERCUSSION: S/o free fluid in the form of puddle sign (120cc)/ Shifting dullness (>1 litre)/ Horseshoe dullness Fluid thrill (>2 litres). AUSCULTATION: Bowel sounds, Bruits

Per rectal examination

Diagnosis -------Yr old M/F from---------community born of a-------marriage with hepatosplenomegaly with pallor/ icterus/ hematemesis/ malena/ IU infection/ umbilical vein catheterization with, failure to thrive, with vitamin deficiency A/D/E/K. with s/s of liver cell failure, with s/s of Portal hypertension with s/s of hypersplenism with dysmorphic features, or s/s of congenital infection/ cataracts or s/s of storage disorder. Differential diagnosis: Hepatosplenomegaly: Infection - Disseminated Kochs, malaria, kala azar, SBE, IU infection, Neonatal Hepatitis syndrome. Hematological - Chronic hemolytic anemia, leukemia, Hodgkins lymphoma. Congestive - CCF, constrictive pericarditis, Budd-Chiari, Portal hypertension. Storage - Niemann pick disease, Gaucher, GSD, MPS.

Splenohepatomegaly: Gauchers disease type 1 to 4

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Hepatosplenomegaly with lymph nodes: Disseminated Kochs, leukemia, lymphoma, infectious mononucleosis.

Splenomegaly with pallor/ icterus: Hemolytic anemia, cirrhosis, Portal hypertension, hypersplenism.

Splenomegaly with petechie / ecchymosis: Acute leukemia, SBE, ITP, hypersplenism.

Hepatomegaly: TB, kwashiorkor, CCF, leukemia, lymphoma, congenital hepatic fibrosis, Storage disorders (glycogenosis, MPS, Gauchers disease, Niemann-pick disease), tumors (hepatoblastoma, wilms, neuroblastoma). Splenomegaly: Infections- malaria, kala-azar, TB, SBE, CMV, EBV, Toxoplasmosis. Hematological -hemolytic anemia, hemoglobinopathies. Congestive - PHT, cirrhosis, chronic CCF, constrictive pericarditis. Infiltrative- Niemann-pick disease, Gauchers disease. Neoplastic -leukemia, lymphoma. Miscellaneous-Rheumatoid arthritis, SLE. Massive splenomegaly-disseminated Kochs, malaria, kala-azar, Extrahepatic portal hypertension, tropical splenomegaly, spherocytosis, osteopetrosis. Moderate splenomegaly- above+ leukemia, Hodgkins lymphoma, hemolytic anemia. Mild splenomegaly -above+ typhoid, SBE, septicemia.

Hepatosplenomegaly with anemia: Neonatal-Isoimmune hemolytic anemia, congenital spherocytosis, alpha thalassemia, TORCH, TB, congenital malaria, congenital leukemia, histiocytosis, neuroblastoma, osteopetrosis. Infancy- Thalassemia, sickle cell anemia, Malignancy, Malaria, Kala-azar, TB, Gauchers, Niemann-Pick disease, GSD. Childhood spherocytosis, Infection, JRA, SLE, Cirrhosis with portal hypertension, Malignancy Hepatosplenomegaly with ascites: Disseminated Kochs Cirrhosis of liver- post hepatitis, Indian childhood cirrhosis, Wilsons Disease, portal hypertension Congestive- Constrictive pericarditis, Budd-Chiari, pericardial effusion. Malignancy-rarely ascites. 87

INVESTIGATIONS Routine: Hb/CBC, platelet count, Peripheral smear, reticulocyte count ESR: raised in TB, malignancy, and collagen vascular disease. Urine routine: bile salts/bile pigments in urine. Stool routine: occult blood, worms, E.Histolytica. Chest X-Ray, MT Specific tests : LFT- S.bilirubin, SGOT, SGPT, ALK.Phosphatase, total protein, albumin, PT/PTTK USG ABDOMEN: detects hepatosplenomegaly, liver architecture, gall bladder and biliary tree pathology, portal vein size, lymph nodes and free fluid in abdomen. Liver scan if required. Liver biopsy. Ascitic tap if significant quantity of free fluid present. S.calcium/phosphorus/alkaline phosphatase. S.BUN/creatinine/ electrolytes. Other investigations depend on the etiology. Slit lamp examination to detect KF ring, S.ceruloplasmin, urine copper excretion (Wilsons disease). TORCH titres to r/o IU infection. Hb electrophoresis to detect thalassemia, sickle cell disease etc Other tests: HbsAg, Osmotic fragility, Blood culture, Bone marrow examination, Plasma and urine aminoacidogram, Alpha-1 antitrypsin levels, Sweat chloride to detect cystic fibrosis. Treatment: depends on the underlying etiology. THALASSEMIA -------- yr old M/F child BOCM/ BONCM belonging to ----------------- community , weighing------ kg with an expected wt of ---------- kg residing at-------, hailing frompresented with c/c of increasing pallor abdominal distension failure to thrive H/o repeated transfusionstransfusions started at what age, regularity and frequency of transfusions. H/o receiving any regular injections/ medications. H/o discolouration of skin H/o not achieving adequate weight and height. Older child-----h/o having achieved puberty. H/o repeated chest infections/ breathlessness H/o deafness(sensorineural deafness due to desferrioxamine toxicity or bony expansion and compression of the eight cranial nerve.) H/o complications of blood transfusion------ blood transmitted disease, iron overload FAMILY HISTORY----- OF Sibling/ relatives receiving transfusions 88

DIET HISTORY------to check the iron consumption in food Rest of the history as usual. ON EXAMINATION GENERAL INSPECTION Position patient,Vital parameters ,Growth Parameters Height ,Weight with Percentiles ,Tanner staging for puberty , Skin Colour , Pigmentation , Pallor , Jaundice Facial features-Frontal bossing/Parietal bossing/Chipmunk facies / Maxillary Overgrowth/ Dental malocclusion /Prominent malar eminence/ Broadened nasal bridge Hands- Finger tip pricks / Pallor, pigmentation Peripheral stigmata of chronic liver disease Pulse -Slow(hypothyroid) ,Irregular(cardiomyopathy) , Alternans(CCF), Hyperdynamic(anaemia) Head & neck- Conjuctival pallor ,Scleral icterus ,Cataracts(desferrioxamine) Retinopathy(desferrioxamine) , Teeth:dental malocclusion, Neck/goiter Heart-Full precordial examination to detect cardiomyopathy, CCF, haemic murmurs Abdomen- Distension ,Splenectomy scar Injection sites Desferrioxamine/ Insulin Hepatosplenomegaly Lower limbs and gait- Leg ulcers , Ankle odema(CCF) ,Bony tenderness Gait examination for long tract signs-----due to vertebral bony expansion and cord compression Delayed ankle jerk relaxation Back examination for lordosis, tenderness Others-Urinanalysis for glucose Chvosteks and Trousseaus signs(hypoparathyroidism) Hearing(sensorineural deafness) Commonly asked questions: Differential Diagnosis of Hemolytic anemias. Ideal transfusion regime. Complications of Thal major and Blood transfusions. Penatal diagnosis. Diagnosis of hypersplenism. Chelation therapy Recent advances in management of Thal major.

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HEPATOSPLENOMEGALY, JAUNDICE AND PORTAL HYPERTENSION History:

Jaundice: Onset of Jaundice Past history of jaundice (Wilsons disease, Autoimmune hepatitis, Hemolytic anemia) Associated with high colored urine +/- clay colored stools (Obstructive jaundice) Abdominal distension: Progressively increasing (organomegaly, ascitis), Associated with pain: hepatitis History of etiology: History of blood transfusion in past, Neonatal umbilical catheterization, Family history of hemolytic anemia, jaundice, History of drug ingestion. Immunization for Hepatitis B, Hepatitis A.Skin rash, joint pain (Autoimmune hepatitis) History of complications: Bleeding from any site, Altered sensorium, altered sleep pattern, Black colored stools, Ascitis, Night blindness, limb deformity, chelitis (Vitamin deficiency). Fever, pallor, petechie (for hypersplenism).

Examination:
General examination: Jaundice, Signs of liver cell failure, Anthropometry to rule out FTT, K-F ring, Fundus for chorioretinitis, signs for Vitamin Deficiencies, Edema, anasarca, Clubbing, Anemia, Flapping tremors, Dolls facies.

Abdominal examination:
Inspection: Localized bulge, distension (which quadrant is more affected), prominent veins direction of flow, hernial orifices, scars and sinuses Palpation: Superficial palpation: Guarding, tenderness, rigidity Deep Palpation: Hepatomegaly- Tender/Nontender Surface: Smooth/Nodular Span and Size Border: well felt/ sharp/diffuse Consistency: Soft/firm/hard Splenomegaly - Size (Grades of splenomegaly) Consistency: Soft/firm Splenic notch Kidneys/Divarication of recti/ Hernial sites Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddles sign Auscultation: Renal Bruit, Venous hum. Diagnosis: Chronic hepatitis with hepatosplenomegaly with/without jaundice, with/ without portal hypertension, with/without ascitis, with/without signs of liver cell failure. Most likely etiology being : Autoimmune hepatitis/ Infective Hepatitis/ Wilsons disease/ Drug Induced Hepatitis/Inborn error of Metabolism / Storage disorder. 90

Investigation:
Biochemical / Routine tests LFT including PT/PTT S. Bilirubin SGOT/SGPT Alk.PO4 Total Proteins /albumin RBS CBC with Retic. Count Special Etiological Tests HbsAg, Anti HCV, HIV S.ceruloplasmin 24 hours urine copper ANA, dsDNA, Anti LKM Antitrypsin levels
Morphological tests

Liver biopsy Staining with HE and PAS.

USG abdomen OGD scopy Slit LampKF ring

Treatment:
General measures: Proper nutrition and multivitamin supplementation,Vitamin K supplementation, Sclerotherapy for oesophageal varices, Diuretics and salt restriction for ascitis. Specific measures: For Autoimmune hepatitis: Steroids. For Infective hepatitis: Interferon/Ribavarin/ Lamivudine. For Wilsons disease: Penicillamine. For Drug Induced hepatitis : Avoid specific drug.

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NEONATAL CHOLESTASIS - HISTORY TAKING AND EXAMINATION

C/O Jaundice: Onset of Jaundice Associated with high colored urine +/- clay colored stools (Obstructive jaundice) Well child or ill looking infant Abdominal distension: Progressively increasing (organomegaly, ascitis) History of etiology: Maternal history of drug ingestion, jaundice / infection in pregnancy, Neonatal umbilical catheterization Associated skin rash, petechie, fever, cardiac disease Full term or preterm Dysmorphic features Family history of hemolytic anemia History of complications: Bleeding from any site Altered sensorium Ascitis Examination: General examination: Jaundice, Fundus for chorioretinitis Signs for Vitamin Deficiencies Edema, anasarca Anemia Dysmorphic features (Chromosomal, Alagille) Cataracts Abdominal examination: Inspection: Localized bulge, distension (which quadrant is more affected) Palpation: Superficial palpation: Guarding, tenderness, rigidity Deep Palpation: Hepatomegaly- Tender/Nontender Surface: Smooth/Nodular Span and Size Border: well felt/ sharp/diffuse Consistency: Soft/firm/hard Consistency: Soft/firm Splenic notch

: Splenomegaly - Size (Grades of splenomegaly)

Kidneys/Divarication of recti/ Hernial sites Percussion: Shifting dullness/horseshoe dullness/fluid thrill. Puddles sign Auscultation: Renal Bruit, Venous hum Other systems: Cardiac murmur, hydrocephalus, Meningitis

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Specific clinical features

Disorders
Hepatic or biliary hemangioma

Abnormal physical signs

Cutaneous hemangiomata Situs inversus Systolic murmur, abnormal facies, embryotoxon Skin lesions, purpura, chorioretinitis, myocarditis etc. Cataracts Multiple congenital anomalies Cystic mass below the liver

Extrahepatic biliary atresia Biliary hypoplasia Generalized viral infections

Galactosemia, hypoparathyroidism

Trisomy 21 ,13 or 18 Choledochal cyst

Diagnosis: Neonatal jaundice

with/without hepatosplenomegaly, With/without ascitis With/without dysmorphic features With/without anemia With/without associated anomalies

Most likely etiology being : Neonatal Hepatitis / Biliary atresia / Inborn error of Metabolism / Galactosemia/ Chromosomal disorder

Investigation:
Jaundice in newborn

Conjugated jaundice

Unconjugated jaundice

Infective: Viral :CMV, Rubella, Reovirus III, Hep B Bacterial: E. Coli, Listeria, Protozoal: Toxoplasma Inherited : Niemann-Pick Type C, Galactosemia, Alpa-1 antitrypsin deficiency, Biliary Hypoplasia (Syndromic), Cholestasis with actin and microfilament accumulation, Progressive intrahepatic cholestasis Chromosomal Anomalies: Trisomy 13/18/21 Idiopathic Biliary atresia Neonatal Hepatitis Choledochal cyst Miscellaneous: TPN, Hypothyroidism, Maternal alcohol Ingestion, Erythromycin estolate, Frusemide

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Investigation:
Biochemical/ Routine tests

Special Etiological Tests

Blood culture Urine culture Stool culture CRP VDRL TORCH titres (Both of child and mother) HbsAg, HIV Test for Galactosemia Antitrypsin levels UAA/PAA Thyroid function tests

Morphological Tests

Other tests

Histopathology

LFT including Bilirubin SGOT/SGPT/GTP/ Alk.PO4 PT/PTT Total proteins RFT Hemogram S.electrolytes S.Ammonia VBG RBS

USG abdomen Hepatobiliary Scan Cholangiogram (Peroperative/ Laproscopic)

X-ray spine: (Alagille) X-ray chest:

(Cardiomegaly)

Staining with HE and PAS.

Fundoscopy: (Chorioretinitis)

Treatment: General measures: Proper nutrition and multivitamin supplementation in cholestatic doses Vitamin K supplementation Phenobarbitone Cholestyramine/Urodeoxycholic acid Specific measures: Toxoplasmosis: Sulphamethaxazole, pyrimethamine Galactosemia: Galactose free diet Biliary Atresia: surgical intervention Choledochal cyst: Surgical intervention

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RHEUMATOID ARTHRITIS
Informant: Name, age, sex, residence, community. History: Joints: Pain, swelling, joint restriction Large/small joints involved or both Number of joints involved Pain: Acute/chronic joints involved Early morning/continuous (morning stiffness is seen in JRA and post infectious arthritis) Duration/ course of pain Swelling: Deformity TM joint, cervical spine, cricoarytenoid (hoarse voice), hip and back (pauciarticular type 2) H/o infection/ trauma to joint/ stress/ rash/hematuria (SLE, Reiters) H/o fever high grade with chills retuning to baseline (JRA) H/o any fractures/asymmetrical growth (steroids/periarticular osteopenia) H/o eye watering/ pain/ photophobia/ redness/ rash (JRA) H/o easy fatigability particularly after school in the early afternoon (JRA) H/o fever, preceding sore throat, fleeting joint pains, cardiac symptoms (Rheumatic fever) H/o oral ulcers/ facial rash/ photosensitivity/ alopecia (SLE) H/o monoarticular arthritis/ cough/ Kochs contact (Kochs) H/o travel, enteric illness in the family, exposure to sick pets (Reactive arthritis following an enteric infection.) H/o exposure to tick- (lyme arthritis) H/o pauciarticular arthritis of small joints of the hands and ankle (psoriatic arthritis) H/o loose motions/ mucus/ chronic diarrhea with pauciarticular arthritis affecting joints in the lower extremities (IBD) H/o Repeated severe systemic infections with peripheral arthritis (CVID or X- linked agammaglobulinemia) H/o chest pain (JRA, SLE with associated pericarditis or costochondritis) H/o back pain (JRA, spondyloarthropathy) H/o abdominal pain (serositis/ mesenteric adenopathy.) H/o blood transfusions/ bleeding from sites/ family history of bleeding disorder (Hemophilia) H/o drugs/ vaccines/ sera H/o pallor/ blood tranfusion/ abdominal pain/small joint involvement (Sickle cell anemia) H/o fever, decreased appetite/ bone pain (ALL) H/o bleeding gums/ limb pains (scurvy) H/o treatment taken-response/compliance/ complications. Family history-ankylosing spondylitis, reiters arthritis, IBD. Other history details: Birth, diet, development, immunization, Socioeconomic 95 warmth, redness

EXAMINATION VITALS & ANTHROPOMETRY Pallor/ icterus/ cyanosis/ clubbing /lymphadenopathy/ oral ulcers Eyesepiscleritis (lupus), posterior synechiae (JRA) Muscle weakness (dermatomyositis and mixed connective tissue disease). Joint examination Single or poly Symmetrical/asymmetrical Rash/ nodules over pressure points Check cervical spine/mouth opening/ side to side movt: atlantoaxial joint Touching chin to shoulder and chest: lower cervical spine. TM joint tenderness-put finger in ear and ask patient to open Mouth and say Ah (Micrognathia suggests chronic TM joint involvement) Asymmetric limb length JOINT EXAMINATION: Inspection- swelling, shiny stretched skin, redness, scars Palpation - warmth, tenderness, fluctuation, synovial thickening, patellar tap. Extreme joint tenderness, high spiking fevers and migratory or additive polyarthritis suggests rheumatic fever. Movements Tenderness over insertion of ligaments and tendons- Spondyloarthropathy Other system examination P/A--- -Liver, spleen, ascites. CVS----pericarditis (pericardial friction rub with orthopnea) RS-----pleuritis, rales. CNS-----chorea Diagnosis : Acute/ chronic, duration, Pauci/ polyarticular arthritis of--------- joints, With/ without systemic features, With etiology, With final classification, With/ without complications of Rx. Investigations: CBC: WBC increased, platelet count increased, Hb decreased, MCV decreased ESR- increased, CRP- increased Sr. immunoglobulins- increased ANA positive in 40-85% of all children with pauci or polyarticular JRA. Other conditions with ANA positivity are -ITP, Crohns, chronic autoimmune hepatitis, Graves, malaria, parasitic infection, drugs (phenytoin, ethosuximide, procainamide), leukemia, lymphoma. Rheumatoid factor-should be done in older children with polyarticular involvement and in children who develop rheumatoid nodules. LDH-elevated in JRA Thyroid function-When child presents with muscular weakness 96

Albumin decreased and Sr. protein- nephrosis and IBD X-ray of the involved joint-skeletal dysplasias associated with a degenerative arthropathy Bone scans or MRI- early osteomyelitis or malignancies. MRI studies with gadolinium can reveal tissue abnormalities in JRA, dermatomyositis and sarcoidosis. 2D ECHO- pericardial involvement

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NEPHROTIC SYNDROME
Nephrotic syndrome is characterized by 4 components: proteinuria, hypoalbuminemia, hypercholesterolemia and edema , the primary being proteinuria. History : Presenting complaint Reason for current admission Current symptomsGeneral health ( anorexia, weight gain, lethargy, poor height gain) Oedema (periorbital or ankle edema / anasarca , ascites) Urinary- (hematuria, oliguria, concentrated urine) Past history Initial diagnosis ( when, where, presenting symptoms , initial investigations, established etiology, initial treatment) , number of episodes per year ( usual precipitants , usual treatment ) , number of hospitalizations, sequence of complications and management . Management Current diet , medications , management problems, present treatment in hospital usual management at home, , home urine testing, drug effects, sequence of drug used, compliance, future treatment plan , usual follow up. Social history Disease impact on the child (amount of school & play missed ), Impact on family ( financial constraints) Understanding the disease by the child Immunisation , dietary & Developmental history. Examination General Position of the patient , mental state( irritable, altered ) Vitals pulse, Respiratory rate , BP & Temperature Sick / well Growth parameters . Tanner staging Nutrition & BCG mark Demonstrate distribution of edema-Ankle and leg, periorbital, sacral, ascites, Pleural effusions & anasarca Skin- sallow, pallor, jaundice, petechiae, pyoderma marks Peritoneal tap marks Signs of steroid toxicity Signs of dehydration Joints( SLE, non MCNS)

Systemic examination Inspection skin- scars, generalized distention , swelling. Palpation tenderness , guarding, abdominal wall edema, deep- kidneys ballotable ( nephromegaly),lymphnodes. Percuss fluid assessment puddle sign, shifting dullness, horseshoe shaped 98

dullness, fluid thrill. Percuss the bladder Auscultate Genetalia scrotal edema Other systemic examination - As usual Diagnosis : Child with anasarca and urinary disturbances (oliguria/ hematuria) , initial / episodic , without hypertension, with / without complications , most probably renal cause MCNS/Non MCNS , Steroid responsive / non responsive. Investigations Urine Specific gravity, PH, Casts, routine and microscopy , pus cells, blood & Proteins. Quantify proteins loss 24 hr u. protein estimation , albumin/ creatinine Serology- Complete hemogram - CBC, ESR, Peripheral smear. BUN, S.Creatinine, and electrolytes Albumin and total proteins S.Cholesterol & lipid profile Complete hemogram CBC , ESR ( usually above 100 mm HG) For secondary NS/Frequent relapser- Hepatitis B serology , ANA , Ds DNA VDRL, and C3 Imaging Xray chest if required ( TB, pleural effusion ) USG abdomen kidney architecture & ascites and organic pathlology. Management : Hospitalize if first episode with severe edema and Nephrotic syndrome with complications Diet - Salt restricted diet. Fluids based on output. Food with high biological value proteins. Rule out infection precipitated nephrotic syndrome ( CBC, Blood culture , urine , Peritoneal tap if peritonitis is suspected & underlying tuberculosis Diuretics- judiciously Corticosteroids Initial episode - 2mg/kg/day (60mg/m2/day) in three divided doses for 1 month followed by 1.5 mg/kg/day ( 40 mg/m2) on alternate day -in the morning a day for another month.For relapse- Daily predinisolone 2 mg/kg/day till urine become negative / trace for 3 consecutive days followed by 1.5 mg/kg/day every alternate day for 1 month. Second agents- Cyclophosphamide, chloambucil, levamisole Activity , immunizations looked into Monitoring - growth , steroid toxicity, urine proteins & complications of NS

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Commonly asked questions : Basic definitions - relapse, remission , frequent / infrequent relapser, steroid dependant NS, resistant NS, nonresponder. Methods to detect proteinuria. Difference between nephrotic syndrome / nephritis Indications for renal biopsy Indications for second line agents. Common infections & Complications of Nephrotic syndrome Types of Nephrotic syndrome with prognosis Management of non MCNS nephrotic syndrome Congenital nephrotic syndrome & Secondary causes of nephrotic syndrome Causes of anasarca

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Evaluation Form
Name --------------------------------------------------------------------------------------------------Address---------------------------------------------------Hospital --------------------------------Tel No: _________________________________ Email_________________________

What are your comments regarding this programme?

How do you rate the practical content of the Programme? Excellent / Good / Average / Poor Do you think such programmes benefit the post graduate students ? Any views / comments for future CMEs :

Any other comments?

Jgd

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Quiz Answers
Name ------------------------------------Appearing for -------------- exams
1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25.

Special Thanks
The Management of B.J.Wadia Hospital for Children. Administration staff of B.J.Wadia Hospital for Children. Senior Faculty Teachers .
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Medical staff of B.J.Wadia Hospital for Children. Pharmaceutical Companies for sponsorship Wadia Library Staff Residents of The B.J. Wadia Hospital for Children.

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