Ira Shah
Medical Sciences Department, Pediatric Oncall.

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056

Clinical Problem :
A 2 month old boy presented with jaundice without high coloured urine since 1 month of age. He was a full term, caesarean section delivery in view of fetal distress with birth weight of 3.5 kg and cried immediately after birth. He was on exclusive breast feeds and was immunized till date. On examination, he was well nourished {weight = 4.4 kg}, had jaundice without hepatosplenomegaly. Other systems were normal. Investigations showed:
• Hemoglobin = 10.9 gm-dl
• WBC count = 6,500-cumm {Polymorphs = 25 percent, Lymphocytes = 74 percent, Monocytes = 1 percent}
• Platelet count = 3,39,000-cumm
• Reticulocyte count = 1.2 percent
• Bilirubin = 9.8 mg-dl {indirect bilirubin = 8.8 mg-dl}
• Liver transaminases = Normal
• G6PD = Normal
• Thyroid function tests = Normal
• Peripheral smear = RBC morphology is normal.

Child’s breast milk was discontinued for 2 days but jaundice did not resolve. There was no Rh or ABO incompatibility and no improvement with phototherapy. He was then treated with phenobarbitone for 5 days following which his bilirubin levels decreased.

Question :
What is the diagnosis _?

Expert Opinion :
This healthy neonate has presented with indirect hyperbilirubinemia. The common causes of neonatal indirect hyperbilirubinemia such as Rh or ABO incompatibility, Polycythemia, hereditary spherocytosis, G6PD deficiency, breast milk jaundice and even hypothyroidism have been ruled out. Also it is unlikely to be exaggerated physiological jaundice as it would not persist beyond 1st month of life. {Physiological jaundice usually resolves by Day 14 of life}. Thus other possibilities such as conjugation defect in bilirubin should be kept in mind such as Criggler Najjer syndrome. There are 2 types of Criggler Najjer syndrome -Type 1 in which case the jaundice increases inspite of phototherapy and patients are at risk for kernicterus. This is due to complete absence of enzyme UDP-glucornyl transferase. Type 2 Criggler Najjer syndrome is characterized by partial activity of UDPG transferase enzyme and conjugation activity is potentiated by a short course of phenobarbitone which leads to decrease in bilirubin. In this child also there was decrease in bilirubin following phenobarbitone suggesting that Criggler Najjer Type 2 may be a possibility. The confirmation can be done by estimation and enzyme on liver biopsy.

E-published: November 2010 Vol 7 Issue 11 Art No. 69

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