Misdiagnosis of Caroliʼs Disease: A Case Report

Abstract

Caroli's disease (CD) is a rare inherited condition characterized by localized or diffused, multifocal, segmental dilatation of the intrahepatic bile ducts. Caroli's syndrome (CS) is a more complex form of a disease associated with congenital hepatic fibrosis (CHF) and often accompanied by cholangiocarcinoma, calculi of the intrahepatic duct, cholangitis, pancreatic cyst, and various renal disorders including autosomal polycystic kidney disease (PKD), medullary sponge kidney and medullary cystic disease. A 41-years-old man presented with high fever, chills, fatigue, nausea, vomiting, and pain in right upper abdominal quadrant. Physical examination showed poor general state, tachycardia, mild icterus and hepatosplenomegaly. Laboratory evaluation (Table 1) revealed increased parameters of acute inflammation, liver and kidney function tests; MRCP showed hepatosplenomegaly, multiple cysts in both kidneys with reduced parenchyma, and diffuse cystic/fusiform dilatation of the intrahepatic bile ducts (Image 1 and 2). As 9-month-old infant, he experienced first episode of pyelonephritis that became recurrent and accompanied with vesicoureteral reflux, resulted in chronic renal insufficiency diagnosed 23 years ago. Althought hepatosplenomegaly was verified in early childhood, no further testing were performed. During time, our patient developed recurrent cholangitis but without clear consensus between radiologist and gastroenterohepatologists about pathological substrate - CD, CS or primary sclerosing cholangitis (PSC), although MRCP was performed several times. Liver biopsy in 2007 showed multiple bile duct hamartomas (MBH), without evidence of CHF. Endoscopic retrograde cholangiopancreatography (ERCP) was performed in 2008, and endoscopist reported changes in bile duct suggesting PSC. In order to resolve the diagnostic dilemma, after resolving current episode, genetic testing (exome sequencing) was carried out, now we waiting the results. Based on recurrent cholangitis, cystic dilatation of the intrahepatic bile ducts associated with PKD, normal findings on extrahepatic bile ducts, and presence of MBH, we concluded that our patient most likely has CS. In some cases MRCP, ERCP, not even liver biopsy is not sufficient to clearly diagnose CD; in this case genetic analysis may be helpful. In children and adult patients who present with recurrent cholangitist and hepato/splenomegaly or in all cases with cholagitis and PKD, we must consider CD or CS.Table: Table. Laboratory Data on Admission to the HospitalFigure: MRCP, frontal section: Diffuse cystic/fusiform dilatation of the intrahepatic bile ducts, but more in the left lobe, with enlarged polycystic kidneys.Figure: MRCP reconstruction of the biliary tree: Multiple cystic dilatations communicating with intrahepatic biliary tree and normal caliber of common choledochal duct.