A full-term neonate develops severe unconjugated hyperbilirubinaemia of 22 mg/dL on day 2 despite a negative Coombs test, no evidence of haemolysis, and a completely normal examination. An older sibling had required exchange transfusion for early jaundice. Maternal serum inhibits UDP-glucuronosyltransferase activity when tested in vitro. Which condition is described?

• A Crigler-Najjar syndrome type II
• B Dubin-Johnson syndrome
• C Gilbert syndrome
• D Lucey-Driscoll syndrome ✓

Explanation

Lucey-Driscoll syndrome, or transient familial neonatal hyperbilirubinaemia, results from an unidentified inhibitor of UDP-glucuronosyltransferase present in maternal serum that crosses the placenta. It produces marked unconjugated jaundice in the first 48 hours, often recurs in siblings, and carries a real kernicterus risk requiring intensive phototherapy or exchange transfusion. It resolves spontaneously within the first few weeks. Crigler-Najjar is a permanent genetic enzyme defect, not a transient maternal factor mediated disorder.

Reference: Nelson Textbook of Pediatrics, 21st ed.

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