Publication: A Rare Case of Crigler-Najjar Syndrome Type 2
Date
2025
Article Type
Case Report
Journal Title
Journal ISSN
1999-6217
Volume Title
Pages
Pages: 208 - 210
Publisher
Nepal Health Research Council
Abstract
Crigler–Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male admitted to Kanti Children’s Hospital with persistent jaundice since birth. Diagnostic evaluation accompanied by gene sequencing confirmed CNS2 and the patient was effectively managed with orally administered phenobarbitone. CNS2 can be distinguished from other potential causes of unconjugated hyperbilirubinemia based on bilirubin concentration and the affected patient’s response to phenobarbitone. Genetic counselling is essential for the recognition and prevention of severe hyperbilirubinemia which, in the absence of timely medical intervention, may lead to neurotoxicity.
Keywords: Case report; crigler-Najjar syndrome; genetic counseling; phenobarbitone; unconjugated hyperbilirubinemia.
Description
Anil Kumar Shrestha
Kanti Childrens Hospital, Maharajgunj, Kathmandu, Nepal
Sangay Chultim Sherpa
Himal Hospital, Gyaneshwor, Kathmandu, Nepal
Asmita Karki
Hospital for Advanced Medicine and Surgery, Dhumbarahi, Kathmandu, Nepal
Sumit Agrawal
Kanti Children’s Hospital, Maharajgunj, Kathmandu, Nepal
Deepak Raj Paudel
Rapti Academy of Health Sciences, Ghorahi, Dang, Nepal
Keywords
Identifier
https://doi.org/10.33314/jnhrc.v23i01.5352