Abstract
The clinical course, diagnosis and therapy of Crigler-Najjar syndrome type-1 (the first case in Japan) was described. Jaundice appeared at 3 days of age and developed progressively to 34.8mg/dl (entirely indirect type). Despite of repeated exchange transfusions, hyperbilirubinemia had persisted. On admission (3 months of age), clinical manifestation was unremarkable except for jaundice. The total bilirubin level in serum was 25.49mg/dl with direct fraction of 0.42mg/dl Liver function tests, hematological tests including hemolysis were within normal limits and histological examination of hepatic architecture was also normal. Bilirubin concentration from duodenal juice was 0.98mg/dl containing a trace amount of bilirubin glucuronide. Since hepatic bilirubin UDP-glucuronyltransferase activity, in vitro, was not detected, and phenobarbital administration had no effect on serum bilirubin levels, a diagnosis of Crigler-Najjar syndrome type-1 was made. The intermittent phototherapy was successfully used to control hyperbilirubinemia. The patient is now 2 years old and has no signs of kernicterus.
