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Abstract：
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.
摘要：
Caroli综合征是一种先天性疾病,主要表现为肝内胆管扩张和先天性肝纤维化。这是临床工作中的罕见情况。通常,这种疾病的诊断是通过医学影像学证实的。这里,我们报告了一例反复上消化道出血的非典型Caroli综合征。患者接受影像学检查,肝活检和全外显子组测序。影像学检查结果无特异性。然而,在病理检查的帮助下，患者被诊断为Caroli综合征。总之,对于Caroli综合征的影像学表现不确定的病例，准确的诊断应该依靠病理学。通过讨论这个具体案例，我们的目标是增强读者对这种疾病的理解，提供有价值的信息，可以帮助早期发现和适当管理的卡罗利综合征，最终改善患者预后。
