ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic disorders characterized by progressive intrahepatic cholestasis. Different mutations in hepatocellular transport genes result in distinct PFIC subtypes with unique clinical manifestations, laboratory findings, and histopathological characteristics. Three PFIC genotypes have been commonly described (PFIC 1, 2, and 3), but in recent years, PFIC 4, 5, and 6 genetic mutations have been identified. Here, we report the first PFIC 4 case in the Middle East in a 46-day-old male infant who was successfully treated with a liver transplant. A 46-day-old, male, full-term infant presented with persistent jaundice and obstructive liver pathology suggested by liver profile and biopsy. Whole exome sequencing confirmed the diagnosis of PFIC 4. Medical treatment failed to improve the patient's symptoms. Therefore, the patient underwent hepatectomy and an unrelated liver transplant. He is currently exhibiting significant clinical improvements and is free of active complaints. PFIC is a rare disease that poses diagnostic and therapeutic challenges for clinicians. Infants presenting with unexplained cholestasis should have PFIC 4 as a differential diagnosis. Early recognition and treatment of PFIC 4 with liver transplantation may result in a more favorable prognosis.
