Crigler-Najjar Syndrome Type 2 in an Adult: A Rare Presentation
Keywords:
Crigler-Najjar syndrome, isolated indirect hyperbilirubinemiaAbstract
Introduction: Crigler-Najjar syndrome type 2 (CNS type 2) is a rare disorder that causes elevated levels of bilirubin in the blood (nonhemolytic unconjugated hyperbilirubinemia). The main symptom of CNS type 2 is persistent jaundice. It is caused by genetic changes in the UGT1A1 gene and the inheritance is autosomal recessive. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. We report one such rare case. Case report: A 75-year-old male presented with history of right-sided weakness with right-sided facial weakness, MRI brain revealed an infarct in the left side of brain with general physical findings suggestive of icterus. Conclusion: Diagnosing and managing these patients may be challenging. Our aim is to draw attention of the treating physicians towards this disease with the help of this case report.
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