Crigler-Najjar disease (CN) type I is characterized by persistent unconjugated
hyperbilirubinemia from birth. The male patient here was diagnosed with this disease as a neonate and had been treated by
phototherapy. At age 16 he suddenly developed generalized convulsions, followed by impaired cognitive function. The serum level of
bilirubin was extremely high (total
bilirubin: 41.7 mg/dl) and there were no other detectable causes responsible for the
metabolic encephalopathy. He received
bilirubin adsorption
therapy several times, and the
bilirubin encephalopathy improved in response to the fall in the serum level of
bilirubin. After this he underwent a successful
liver transplantation in Australia, and recovery of his mental faculties was satisfactory. Within the subsequent 3 years epileptic abnormal discharges on the electroencephalogram disappeared.
Phototherapy alone can not prevent the rise in the serum level of
bilirubin in adolescent or adult patients with CN type I, therefore such patients tend to experience life-threatening
bilirubin encephalopathy. To save patients with the acute onset type of
bilirubin encephalopathy, sufficient
bilirubin adsorption followed by
liver transplantation appears to be the most recommended therapeutic approach.