Based on the literature, patients with CS could be easily misdiagnosed with many other hepatic diseases, such as primary sclerosing cholangitis (PSC), multidrug resistance protein 3 (MDR3) deficiency, recurrent pyogenic cholangitis, hepatic cysts, autosomal dominant polycystic liver disease (ADPKD), choledochal cysts, congenital hepatic fibrosis, biliary papillomatosis, and biliary hamartomas [26–28]. Here, ABCB4 is linked to bile duct papillary neoplasm.