[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.
Shimizu
Norikazu
N
Second Department of Pediatrics, Toho University School of Medicine, Tokyo. norikazu@med.toho-u.ac.jp
Mizutani
Masaoki
M
Aoki
Tsugutoshi
T
D000327:Adsorption; D000328:Adult; D001663:Bilirubin / Q000097:blood* / Q000493:pharmacokinetics; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000628:therapy*; D004569:Electroencephalography; D006801:Humans; D007647:Kernicterus / Q000209:etiology / Q000628:therapy*; D016031:Liver Transplantation; D008297:Male; D010789:Phototherapy; D017741:Survivors
D001663:Bilirubin