1. Indirect Hyperbilirubinemia at birth – Is it all physiological?
Presenter:
Smita Malhotra - Apollo Hospital, New Delhi
Moderator:
Anupam Sibal
Pediatric Gastroenterologist , Apollo Hospital, New Delhi
Panelists
Ujjal Poddar
Pediatric Gastroenterologist, SGPGI, Lucknow
Girish Gupte
Pediatric Hepatologist, Birmingham Children’s Hospital, UK
Alka Jadhav
Pediatric Gastroenterologist, LTMGH, Sion, Mumbai

2. Indirect hyperbilirubinemia at birth Is it all physiological?
Dr. Smita Malhotra Apollo Centre for Advanced Pediatrics Indraprastha Apollo Hospitals, Delhi

3. Product of consanguineous marriage
27 months
Female
Qatar
Product of consanguineous marriage

4. Jaundice since D2 of life

5. Total Bilirubin 25 mg%
Indirect Bilirubin 23.2 mg%

6. High Indirect Bilirubin Direct coomb’s test Positive
Increased Hb/HaematocritDelayed cord clamping Maternal foetal or twin – twin transfusion
Direct coomb’s test Positive
Coomb’s test negative
Isoimmunization Rh incompatibility ABO incompatibility Minor group incompatibility
Normal / Low – Hb/Hct.
RBC – normal Reticulocyte count – normalExtravascular blood - Cephalhaematoma, Bruises Increased entero – hepatic circulation Pyloric stenosis Intestinal obstruction Swallowed blood Metabolic / Endocrine problems Criggler – Najjar syndrome Hypothyroidism Breast milk jaundice etc
RBC Morphology abnormal High reticulocyte countABO incompatibility G6PD deficiency α – thalassaemia Spherocytosis / Elliptocytosis Disseminated intravascular coagulation (D.I.C.)

7. No hematoma
No blood group incompatibility
No evidence of sepsis
No evidence of hemolysis
CBC/PS/Retic’s/G6PD/DCT
LFT normal
TFT normal

8. Multiple exchange transfusions Mutation analysis in Europe at 4 months
? Criggler Najjar Syndrome type 1
Phototherapy
Multiple exchange transfusions
Mutation analysis in Europe at 4 months

9. Phototherapy for 18 hours/day Bilirubin 16-18 mg/dl
Home phototherapy
Phototherapy for 18 hours/day
Bilirubin mg/dl

10. LT advised at IAH at 1 year of age
LDLT at 27 months

11. At admission Weight 14.8 kg Deeply icteric No organomegaly No ascites
Unsteady gait
LL power 4/5
Ankle jerk weak
Plantars flexor

12. Indirect hyperbilirubinemia
Total bilirubin mg/dL, direct 0.53
AST 41 U/l
ALT 46 U/l
Alkaline phosphatase 218
Prothrombin time 12.4 sec

13. Pediatric neurologist
BERA – Normal
MRI brain
Altered signal intensity in putamen
Pediatric neurologist
Cleared for LRLT
Neurological improvement likely

14. Pre transplant evaluation
Nutritional status
Vaccination

15. Complete haemogram
Cultures
Coagulation studies
KFT
Thyroid function tests
Urine P/Cr ratio

16. Viral markers
CXR
ECG
ECHO
Dental clearance
ENT clearance

17. USG doppler
Normal span of liver and spleen
Normal flow pattern in PV/HA/HV
CT angiography abdomen

18. Segment II and III graft from the left lobe
Donor- Father
Recovered well
Discharged 21 days after liver transplantation

19. Post transplant
5 years post transplant doing well with normal liver function and a serum bilirubin of 0.8 mg/dL
Neurological status- normal

23. Criggler Najjar syndrome
Inborn error of liver metabolism
Rare (I in 1,000,000) and severe AR disorder
UGT1A1 mutation
Hereditary nonhemolytic unconjugated jaundice

24. Type 1
Complete absence of UGT activity
Bil mg/dl
Risk for kernicterus
Type 2
Partial enzyme activity
Inducible with phenobarbitone
Lower bilirubin levels

25. High-performance liquid chromatography of bile
Tissue enzyme assay of a liver biopsy sample
Mutation studies

26. Treatment Phototherapy Exchange transfusions LT- only definitive Rx
Future options
Hepatocyte transplant
Gene therapy