AI Summary & Key Takeaways
AI InsightConclusion: As in this PFIC2 case, PFIC can occasionally be very severe and rapidly progress to liver failure and require liver transplantation in the neonatal period.
📌 3 Key Takeaways
Abstract
Background: Progressive familial intrahepatic cholestasis (PFIC) is a severe cholestatic liver disease often requiring a liver transplant (LT). This report describes PFIC in a newborn with jaundice and hepatosplenomegaly treated with LT in the neonatal period. Case Report: A female infant was referred to the neonatal intensive care unit on the first day of life due to direct hyperbilirubinemia and thrombocytopenia. After excluding other common causes of neonatal cholestatic jaundice in the differential diagnosis and considering the combination of the clinical and laboratory findings of hepatosplenomegaly and biopsy results, the patient was diagnosed with PFIC type 2 (PFIC2). LT was performed on the 33rd day of life once the infant had achieved a weight of 3400 g. Conclusion: As in this PFIC2 case, PFIC can occasionally be very severe and rapidly progress to liver failure and require liver transplantation in the neonatal period.