A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation

Crigler-Najjar syndrome type I is an autosomal recessive disorder with severe unconjugated hyperbilirubinemia, caused by the complete absence of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT) activity. The authors reported a 24-year-old male with this syndrome. He had severe icterus from the age of 4 days, and was diagnosed as having Crigler-Najjar syndrome type I at 51 days after birth. Despite repeated phototherapy, his serum bilirubin was increased. When bilirubin encephalopathy occurred at the age of 16 years, the serum bilirubin level was 47 mg/100 ml. EEG showed diffuse and continuous high voltage slow waves. He was treated with bilirubin adsorption, which reduced the serum bilirubin level to 10-20 mg/100 ml, with disappearance of the EEG abnormality. Subsequent liver transplantation resulted in improvement of neurological signs and symptoms, and recovery of his mental function.