| Literature DB >> 33604208 |
Eusha Abdul Raffay1, Ayesha Liaqat1, Maria Khan2, Ali I Awan3, Bakhat Mand1.
Abstract
Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle.Entities:
Keywords: crigler-najjar syndrome; hyperbilirubinemia; phenobarbital; ugt1a1 gene; unconjugated bilirubin
Year: 2021 PMID: 33604208 PMCID: PMC7880822 DOI: 10.7759/cureus.12669
Source DB: PubMed Journal: Cureus ISSN: 2168-8184