Crigler-Najjar syndrome is a rare genetic disorder characterized by severe indirect hyperbilirubinemia from birth(1). In Crigler-Najjar type I, where there is complete functional loss of an enzyme which glucuronidates bilirubin(2), patients usually succumb to the neurotoxicity of bilirubin early in life and if they survive, uncontrolled bilirubin levels can have detrimental effects on neurodevelopment. Liver transplantation offers the only definitive treatment. We report the first successful liver transplant for Crigler-Najjar syndrome in India.

A 27 month old girl child with indirect hyperbilirubinemia with bilirubin levels > 20 mg/dL was diagnosed as a case of Crigler-Najjar syndrome type I in a Middle East country and was discharged at 2 months of age on home phototherapy and later started on phenobarbitone. In view of her persistent hyperbilirubinemia despite conservative therapy and severe limitation in mobility because of the need for prolonged phototherapy, she was referred to our centre for liver transplantation.

On admission she weighed 14.8 kg and was deeply icteric. The investigations revealed an indirect hyperbilirubinemia (total bilirubin 29.31 mg/dL, direct 0.53 mg/dl), AST 41 U/l, ALT 46 U/l, alkaline phosphatase 218, prothrombin time 12.4 sec. The infant received a segment II and III graft from the left lobe of her father’s liver. Post operatively she remained hemodynamically stable and was extubated the next day. She recovered well and was discharged 21 days after liver transplantation. Her pre discharge investigations revealed a bilirubin of 1.8mg/dl, direct 1 mg/dl, AST 46 U/l, ALT 31 U/l, serum alkaline phosphatase 131. At fifteen months post- transplant the child is doing well with normal liver function and a serum bilirubin of 0.8 mg/dL.

This case highlights the growing acceptance of liver transplant in India for a variety of indications including metabolic disorders.