Bilirubin adsorption therapy and subsequent liver transplantation cured severe bilirubin encephalopathy in a long-term survival patient with Crigler-Najjar disease type I.
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.
Kaneko
K
K
Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, Nagano.
Takei
Y
Y
Aoki
T
T
Ikeda
S
S
Matsunami
H
H
Lynch
S
S
D000327:Adsorption; D000328:Adult; D001663:Bilirubin / Q000493:pharmacokinetics*; D003414:Crigler-Najjar Syndrome / Q000150:complications*; D006801:Humans; D007647:Kernicterus / Q000628:therapy*; D016031:Liver Transplantation; D008297:Male; D012074:Remission Induction; D012720:Severity of Illness Index; D017741:Survivors; D013997:Time Factors
D001663:Bilirubin