Caroli\'s syndrome is a congenital disease characterized by dilation of intrahepatic bile ducts and congenital hepatic fibrosis. It is a rare condition in clinical work. Typically, the diagnosis of this disease is confirmed through medical imaging. Here, we report a case of atypical Caroli\'s syndrome in a patient who presented with recurrent upper gastrointestinal tract bleeding. The patient underwent imaging examinations, liver biopsy and whole exome sequencing. The results of the imaging examination were non-specific. However, with the aid of pathological examination, the patient was diagnosed with Caroli\'s syndrome. In conclusion, for cases where the imaging presentation of Caroli\'s syndrome is inconclusive, an accurate diagnosis should rely on pathology. By discussing this specific case, our aim is to enhance readers\' understanding of this disease, provide valuable information that can aid in the early detection and appropriate management of Caroli\'s syndrome, ultimately improving patient outcomes.

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.

Caroli\'s disease (CD) is a very rare congenital disorder that is characterized by non-obstructive, segmental and cystic dilatation of intrahepatic ducts. Most patients with CD are asymptomatic, but some patients may suffer from hepatic fibrosis, liver cirrhosis or/and portal hypertension. In complex CD, cystic dilatations of the intrahepatic bile ducts can be present with congenital hepatic fibrosis, liver cirrhosis, portal hypertension, oesophageal varices and autosomal recessive polycystic kidney disease; a condition known as Caroli\'s syndrome. This report describes the case of a 28-year-old woman that had gastro-oesophageal varices that were caused by hepatic fibrosis and portal hypertension as part of Caroli\'s syndrome. The patient underwent successful treatment with endoscopic injection sclerotherapy with lauromacrogol and endoscopic variceal obturation using tissue adhesive. There were no immediate complications and the patient remained free of complications at 1-year follow-up. There are no current reports in the published literature describing Caroli\'s syndrome induced by gastro-oesophageal varices that were treated by a combination of endoscopic injection sclerotherapy and endoscopic variceal obturation. Endoscopic therapy was an effective technique for the treatment of gastro-oesophageal varices in a patient with Caroli\'s syndrome awaiting a liver transplant.

BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli\'s disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli\'s disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli\'s syndrome. The combination of Abernethy malformation and Caroli\'s syndrome has not been reported previously.
METHODS: We present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli\'s syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli\'s syndrome.
CONCLUSIONS: To our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli\'s syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.

This paper describes a case of Caroli\'s disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli\'s syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form of Caroli\'s disease that should be included in the differential diagnosis of patients with recurrent abdominal pain.