An adolescent presenting with Caroli syndrome associated with polycystic kidney disease: A case report

Abstract

Caroli's disease (CD) and Caroli's syndrome (CS) are rare congenital conditions involving cystic dilation of the intrahepatic biliary system. CS and CD are thought to follow an autosomal recessive pattern(by ARPKD gene mutation), often associated with polycystic kidney disease. Clinical features include recurrent cholangitis and cholelithiasis in CD and cirrhosis with portal hypertension in CS. Diagnosis relies on clinical presentation and radiological imaging, mainly MRCP. Management includes antibiotics, ursodeoxycholic acid, and, in some cases, surgical intervention or liver transplantation. Early diagnosis is crucial as CS carries a significant risk of cholangiocarcinoma. Timely intervention can improve patient outcomes and quality of life.