Abstract
Progressive familial intrahepatic cholestasis (PFIC) is an abnormality in the formation and secretion of bile components and bile acids, which present in infancy and early childhood as signs of growth failure and vitamin K deficiency. We present a case of a 6-years-old female who complained of yellow discoloration of the sclera and skin and abdominal distension. Her history revealed tiredness, mild abdominal pain, itching, frequent bleeding, and epistaxis. At first, hepatic cirrhosis was the diagnosis, but the abdominal ultrasound revealed hypoechoic lesions with the normal bile duct. The diagnosis of PFIC-3 was confirmed via detecting pathogenic variants in the ABCB4 gene. Progressive Familial Intrahepatic Cholestasis type 3 is an extremely rare case in the literature, which we can add to the other reported cases previously.