Tapentadol withdrawal, a newer trend in opioid overuse in Nepal: A case report
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Hemant Chand, Om Prakash Bhatta, Sabita Chand, Neha Dangol, Sachin Awasthi, Ram Chandra Poudel, Ram Prasad Lamichhane
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4412013642