Delayed Diagnosis of Crigler-Najjar Disease: A Case Report of a 17-Year-Old Man with Progressive Jaundice

Pedram  Beigvand; Niloofar  Moradi; Sepehr  Ramezani; Faezeh  Firuzpour

doi:10.18502/crcp.v9i3.17237

Pedram Beigvand Gastroenterologist and Hepatologist, Babol University of Medical Sciences and Health Services, Babol, Iran
Niloofar Moradi Pediatrician, Babol University of Medical Sciences and Health Services, Babol, Iran
Sepehr Ramezani Student Research Committee, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran
Faezeh Firuzpour Student Research Committee, Babol University of Medical Sciences, Babol, Iran

DOI: https://doi.org/10.18502/crcp.v9i3.17237

Keywords: Crigler-najjar syndrome type II; Hyperbilirubinemia; UGT1A1 gene

Abstract

Crigler-Najjar syndrome type II is a metabolic disorder stemming from mutations in the UGT1A1 gene, resulting in heightened levels of unconjugated bilirubin. Here is a case report of a 17-year-old male patient with minor thalassemia and G6PD deficiency who was referred due to worsening jaundice. He has had a history of lifelong jaundice, which has intensified over the past year and a half. Subsequently, the patient was diagnosed with Crigler-Najjar type II based on his medical history, clinical examination, and laboratory findings. Furthermore, the patient’s positive response to phenobarbital treatment confirmed the diagnosis. Consequently, it is imperative to consider Crigler- Najjar syndrome in cases of unexplained unconjugated hyperbilirubinemia.