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.

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.

BACKGROUND: Caroli\'s disease is a rare congenital condition characterized by non-obstructive dilatation of intrahepatic ducts. In Caroli\'s syndrome, there is additionally an associated congenital hepatic fibrosis.
METHODS: With institutional review board approval, we identified all patients with Caroli\'s disease and syndrome.
RESULTS: Nine patients were identified, seven males and two females, with a median age of 40 years. Final pathological diagnoses included Caroli\'s disease (n = 6) and Caroli\'s syndrome (n = 3). Patients presented with deranged liver function, cholangitis, cholangiocarcinoma, abdominal pain, cirrhosis, or were diagnosed incidentally. Four patients underwent resection and two underwent liver transplantation. Of the resection group, two patients subsequently underwent transplantation for recurrent cholangitis due to anastomotic stricture in one patient and for end-stage liver disease in the other. All patients with Caroli\'s syndrome underwent liver transplantation. Three patients died during follow-up at 26.2, 7.8, and 3 months post-diagnosis with recurrence of cholangiocarcinoma, liver failure, and metastatic cholangiocarcinoma, respectively. Six patients are alive with a median follow-up of 60 months since presentation (range = 10-134 months).
CONCLUSIONS: Caroli\'s disease and syndrome have a varied presentation. Most individuals with Caroli\'s disease may be adequately treated by resection, but transplantation is required for Caroli\'s syndrome patients due to the associated hepatic fibrosis.