A comparative study of two cases of adult Crigler-Najjar syndrome.

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Two cases of Crigler-Najjar syndrome in adults are presented. Since birth, both patients marked unconjugated hyperbilirubinemia without hemolysis or liver dysfunction. In case I, intelligence quotient of the patient was markedly low. Phenobarbital administration lowered the level of hyperbilirubinemia in both patients, but only moderately in case I. Histological examination revealed marked cholestasis in the lobules in both patients. Hepatic UDP-GT activity was markedly decreased as follows; 0.0035 nmoles/min/mg protein (case I), 0.006 nmoles/min/mg protein (case II). Bilirubin diglucuronide in the bile was 2.1% and 19.5%, respectively. However, bilirubin monoglucuronide in the bile was 51% and 69.3%. From these data, we concluded that case I was an unusual type of Crigler-Najjar syndrome because of the negligible hepatic UDP-GT activity, the low proportion of bilirubin diglucuronide in the bile and the minimal response to phenobarbital.