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.