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VOLUME 1 , ISSUE 3 ( September-December, 2022 ) > List of Articles


An Unusual Case of Type I Crigler–Najjar Disease in a Young Adult: A Case Report

Babli Kumari, Sarfaraz Ahmad

Keywords : Crigler–Najjar syndrome, Hyperbilirubinemia in young adult, Unconjugated hyperbilirubin

Citation Information : Kumari B, Ahmad S. An Unusual Case of Type I Crigler–Najjar Disease in a Young Adult: A Case Report. 2022; 1 (3):151-153.

DOI: 10.5005/jp-journals-10089-0040

License: CC BY-NC 4.0

Published Online: 03-05-2023

Copyright Statement:  Copyright © 2022; The Author(s).


Crigler-Najjar syndrome (CNS) is a genetic disorder. It has a mostly autosomal recessive pattern of inheritance. Unconjugated to conjugated bilirubin conversion in the liver requires the enzyme Uridine 5’-diphosphate-glucuronosyltransferase (UDP-glucuronosyltransferase), which is absent or exhibits low activity in CNS. It is a significant contributor to congenital nonhemolytic jaundice. Following an aberrant gene mutation causes an increase in the bilirubin burden in the blood and is inherited within families. We present a case of a 22-year-old man who has had type I CNS since birth. There is minimal neurological damage, but there is a considerable increase in unconjugated bilirubin. Phenobarbital therapy had no impact on the reduction of bilirubin load. The primary goal is to reduce unconjugated bilirubin, although liver transplantation is the only curative treatment option for type I CNS.

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