10. Caroli syndrome–A case report

Abstract

Background: Caroli syndrome is a disorder of ductal plate malformation with its two components as caroli disease congenital hepatic fibrosis. The caroli disease presents as multiple intrahepatic biliary ectasias and genital hepatic fibrosis (CHF) manifests as periportal fibrosis presenting with noncirrhotic portal ertension. There may be associated autosomal recessive polycystic kidney disease (ARPKD). The disease component may present with repeated cholangitic episodes or CHF may present with al hypertensive (PHTN) form. Autosomal recessive polycystic kidney disease may manifest as nephrolithiasis and urinary tract infections. Case Summary: Here we present a case of 15 year old male presenting with ory of repeated episodes of upper gastrointestinal bleed since 3 years. He had hepatosplenomegaly large esophageal varices on endoscopy. His Ultrasound abdomen also revealed multiple bilateral cysts in the kidneys. He was diagnosed with caroli syndrome on the basis of magnetic resonance cholangio-pancreatography (MRCP). The syndrome may manifest either congenitally or in autosomal ssive inheritance pattern. Liver functions are generally normal till late. However due to portal hypertension and risk of cholangiocarcinoma, the patient should be managed judiciously for complications of PHTN and should be put on close and regular follow up. Conclusions: The definitive treatment for Carolis syndrome requires liver transplantation for diffuse disease and hepatic lobectomy for isolated lobar disease. The authors have none to declare.