Caroli's Syndrome: A Case Report and Literature Review

Abstract

Synonymous with congenital non-obstructive saccular or fusiform intra-hepatic duct dilatation and congenital communicating cavernous ectasia of the intra-hepatic biliary tract, Caroli's syndrome (CS) is an extremely rare fibro-polycystic liver disorder characterized by ductal plate malformation and consequent peri-portal fibrosis due to segmental intra-hepatic duct dilatation. No more than 200 cases of the syndrome have been reported since 1958. CS may affect one or both lobes of the liver, but more commonly it affects the left hepatic lobe. We describe a rare case of CS localized to the right hepatic lobe in a 21-year-old male, who presented with complaints of upper gastrointestinal (GI) bleeding without any signs or stigmata of chronic liver disease. Personal as well as family history was non-significant except positive for consanguineous parental marriage. General physical examination was unremarkable except for pallor, and upper GI endoscopy revealed columns of bandable esophageal varices which led us to a line of investigations to identify the cause of portal hypertension. Blood tests were non-specific, though imaging studies chiefly abdominal ultrasound, CT abdomen and pelvis with contrast, and magnetic resonance cholangiopancreatography (MRCP) led us to confirmation of the diagnosis of CS in the right hepatic lobe with manifestations of portal hypertension as the predominant feature. Diagnosis was confirmed on liver biopsy which showed right-sided cystic dilations with congenital hepatic fibrosis.

Keywords: caroli's disease; caroli’s syndrome; congenital hepatic fibrosis; intra-hepatic cysts; portal hypertension.

Figure 1. Magnetic resonance imaging showing hepatomegaly with cystic dilatations (blue arrows) and biliary ectasia (yellow arrow).

Figure 2. Contrast-enhanced computed scan showing bilaterally enlarged kidneys with multiple small parenchymal cysts (blue arrows).

Figure 3. Magnetic resonance cholangiopancreatography (MRCP) demonstrating segmental intra-hepatic cysts (blue arrows).