Publication: Tapentadol withdrawal, a newer trend in opioid overuse in Nepal: A case report
Date
2025
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Health Research Council
Abstract
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
Hemant Chand
Department of Emergency Medicine, Nova Hospital, Nepal
Om Prakash Bhatta
Department of Emergency Medicine, Nova Hospital, Nepal
Sabita Chand
Department of Emergency Medicine, Nova Hospital, Nepal
Neha Dangol
Department of Emergency Medicine, Nova Hospital, Nepal
Sachin Awasthi
Department of Emergency Medicine, Yashoda Hospital, Nepal
Ram Chandra Poudel
Department of Internal Medicine, Nova Hospital, Nepal
Ram Prasad Lamichhane
Department of Psychiatry, Nova Hospital, Nepal