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Dr.

Tehmas Ahmad Khan


PGT-Pediatrics,
KRL Hospital, Islamabad
 Male Child
 7 months old
 2.6 KG
Introduction  Referred from Chakwal
 Born via SVD at private clinic
 Uneventful birth
 Non-significant antenatal history
 Presented with
 Loose stools
 6-7 episodes per day
Presenting  Greasy, foul smelling
illness  Yellowish in color
 Containing mucus but no blood
 No associated vomiting
 And labored breathing
 Patient had multiple admissions in hospital due to
recurrent chest infections and diarrhea, starting from
2nd day of life
 at 2 months of life TORCH Profile was done due to
recurrent pneumonia and Failure to Thrive
 Torch Profile
Past History  HSV-I/II IgM: Negative
 CMV IgM: Positive
 CMV IgG: Positive
 Rubella Ig M: Negative
 Toxoplasma: IgM: Negative
 PCR for CMV: Positive
 Treated as CMV Pneumonia.
Past History  Started on Antivirals (Valgancyclovir) and supportive care
(Contd)  Patient got better and was discharged on home oxygen
 Patient remained Oxygen dependent
 No Transfusion history
Past History  NKDA/ NKFA
(Contd)  Developmental: Delayed with neck holding not
achieved yet
 Immunizations status: Up to date as per EPI Schedule

Family History  Baby is 2nd child of consanguineous parents with 1st


child alright.
 No History of any inheritable disorders present in
family.
 RR: 35/min
 HR: 126/min
 sPO2: 82% in air
 Palor: +++
Examination  Cyanosis:++ (Peripheral)
 Hypothermic baby
 Moderate Dehydration
 Anthropometry: Weight and Height below 3rd centile
 CVS: S1 + S2
 Chest: Bilateral coarse Crepitations
Examination
 GI: Soft, Non-tender with Liver 2cm below Costal
(contd) Margin, Bowel Sounds audible
 CNS: Tone : Normal, Reflexes: Normal
Provisional Diagnosis

Failure to Thrive
due to CMV Pneumonia
and Chronic Diarrhea
 Immunodeficiency
 Inborn Error of Metabolism
Differential  Congenital diarrhea
Diagnosis  Congenital Lung Malformation
(On basis of History)  Chronic Granulomatous Disease
 Cystic Fibrosis
 HB: 12.3 g/dl
 WBC: 8.7 , N=45%, L=50% E=2%, M=3%
 HCT: 34.0
Work Up  Platelets: 419
 CRP: 11
 Electrolytes: Na=123, K=2.16, cl=77.7
 LFTs= Bil=0.32, ALT=42, alk.Phos=245
 RFT: Urea=18, creatinine=0.3
 Uric Acid= 7.0 mg/dl

 Stools for Reducing Substances: Negative


Workup  Stool for Fat globules: Positive
 Serum Lactate= 29.1 (raised)
 Serum Ammonia= 78
 ABGs= Metabolic Alkalosis
 CT Brain: unremarkable study
 Immunoglobulin Levels:
 IgG: Normal
 IgM: 204 (borderline)
Workup  IgA: 138 (borderline)
 IgE: 97.8 (borderline)
HRCT Chest:
 Pulmonary Interstitial Emphysema with
Workup superadded Infective etiology
 Immunodeficiency: Immunoglobulin Levels normal
 Inborn Error of Metabolism: Metabolic Acidosis
 Congenital Diarrhea: Chloride level Low
Differential  Congenital Lung Malformation: HRCT ruled out
Diagnosis  Chronic Granulomatous Disease: No History of
recurrent abscesses. NBT and DHR were negative
 Cystic Fibrosis: delta 508 Mutation was homozygous
Positive
Final Diagnosis

Cystic Fibrosis
 Autosomal Recessive
 Mutation of CFTR Gene located on Chromosome 7
 Effects 1 in 2500 babies in Caucasian descent
Literature  Current Median predicted survival age of Patients is
Review 38.3
 Newborn Screening is introduced in developed
countries

Reference: Davies JC, Alton EW, Bush A. Cystic fibrosis. BMJ 2007;335:1255–9.
10.1136/bmj.39391.713229.AD
 Point mutation in the “Cystic Fibrosis Transmembrane
Conductance Regulator” (CFTR) protein.
 Most common mutation is ΔF508-CFTR, occurs in
Literature >90% U.S. patients and 66% of all CF worldwide.
Review  Chloride ion channels are used in creating digestive
juices, mucus, and sweat.
 Mutated CFTR proteins don’t allow chloride, iodine, or
thiocyanate to cross the cell membrane.
Literature  Defective Cl- channels: Effects secretions in multiple
Review organ systems
Persistent
Respiratory Obstruction of Cough and
Thick Mucus
Manifestation Airways Recurrent
Infections
Insufficient
Pancreatic Exocrine
CF related
Malabsorption
Manifestation Function Diabetes
 Reduced Bone Mineral Content
 Hypertrophic Osteoarthropathy
Other
Manifestations
 Neonates presents with Meconium Ileus and
demonstrate poor Weight gain
 Antibiotics to treat respiratory infection
 NSAIDs to treat fever
Short Term
 Mucus-thinning drugs Hypertonic Saline
Treatment Nebulization
Options  Bronchodilators to treat cough, SOB
 Oral pancreatic enzymes to aid digestion
 Chest Physiotherapy
 Patient and Family Education
 High-calorie, high-fiber, high-salt diet
Long Term  Fat-soluble vitamins
Options  Drink lots of fluids
 Ensure up-to-date immunizations
 Hand washing
 Exercise
 Latest Drugs
 Ivacaftor (2012)
New in Cystic  Lumacaftor (2015)
Fibrosis  Tezacaftor (2018)
 Improves production, intracellular processing, and
function of the defective CFTR protein
 Patient got better after starting on CREON (pancreatic
enzymes)
 Loose stools improved
Discharge  Oxygen was gradually weened down overstay
 Patient was discharged on CREON and Fat Soluble
Vitamins.
 Patient is stable now with regular followups
 Nelson Textbook of Pediatrics, 21st Edition
References  PG Textbook of Pediatrics, 2nd Edition
Used  UPTODATE.com
 British Medical Journal
Thanks

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