Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown etiology characterized by progressive inflammation of the intrahepatic and/or extrahepatic bile ducts that is increasingly recognized in children. The diagnosis is based on a combination of clinical features and cholestatic biochemical profile, along with typical cholangiographic abnormalities, and confirmed by liver histologic findings. In the absence of underlying bile duct abnormalities, a generalized beading and stenosis of the intrahepatic and extrahepatic biliary tree characterize primary sclerosing cholangitis.
Primary sclerosing cholangitis is usually progressive, leading to cirrhosis, portal hypertension, and liver failure. Effective medical treatment modalities for childhood primary sclerosing cholangitis are undetermined. Liver transplantation remains the only effective therapeutic option for patients with end-stage liver disease from primary sclerosing cholangitis.