Crigler-Najjar syndrome type I: A case report

Abstract

Crigler-Najjar syndrome type I is a rare disorder characterized by a sever unconjugated hyperbilirubinemia appearing in the first days after birth and persisting throughout the patient's life. Only 100 cases have been described in the literature up to now. In this article we report on a case of this syndrome in a now 5-year old girl. The patient has had continuous phototherapy since birth and is in a good general condition with no neurological problems. Nowadays treatment of the disease consist in exchange transfusion, phototherapy, administration of oxygenase inhibitor and ultimately liver transplantation