Delayed Diagnosis of Crigler-Najjar Disease: A Case Report of a 17-Year-Old Man with Progressive Jaundice
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 CriglerNajjar syndrome in cases of unexplained unconjugated hyperbilirubinemia.
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| Files | ||
| Issue | Vol 9 No 3 (2024): May-June | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v9i3.17237 | |
| Keywords | ||
| Crigler-najjar syndrome type II Hyperbilirubinemia UGT1A1 gene | ||
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