Crigler - Najjar Syndrome Type 2: A Usual Presentation of a Rare Disease

Abstract

Crigler - Najjar syndrome (CN) type 2 is caused by a partial defect in uridine diphosphate glucoronosyl transferase-1 (UGT1A1) activity. It is characterized by isolated clinical jaundice. A clinical diagnosis may be confirmed by a detailed history and a thorough clinical evaluation. It needs to be differentiated from Gilbert syndrome. The hallmark of this benign condition is abnormally high unconjugated hyperbilirubinemia and its prompt response to oral phenobarbital therapy with excellent prognosis. Needless investigations should be avoided. Enzyme and gene testing could increase financial constraints in benign disease. We report one such case.