Crigler-Najjar Syndrome Type I Disease: A Study Of 1 Case And Review Of The Literature

Crigler-Najjar syndrome typeⅠis a rare and recessive disorder, which characterized by severe indirect hyperbilirubinemia, due to the absence of the hepatic enzyme bilirubin uridine diphosphate glucuronosyltransferase (UGT). It is frequently complicated by kernicterus because of accumulation of indirect bilirubin. Liver transplantation (LTx) is considered as the definitive treatment for patients with this disease. This study present one case of an 18-month-old child with CNSⅠ, who was diagnosed by both clinical findings and genetic detecting. LTx was performed 5 days after kernicterus broke out and neurological symptoms were successfully reversed. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) show encouraging results in 1 year follow-up, combined with motor development estimations.