PDF(Pubmed)
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.
摘要：
先天性非梗阻性囊状或梭状肝内胆管扩张和先天性肝内胆管沟通性海绵状扩张的同义词，Caroli综合征（CS）是一种极为罕见的纤维多囊肝病，其特征是导管板畸形和由于节段性肝内导管扩张引起的门静脉周围纤维化。自1958年以来，该综合征的报告不超过200例。CS可能会影响肝脏的一个或两个叶，但更常见的是影响左肝叶。我们描述了一个罕见的病例，位于右肝叶的21岁男性，出现上消化道（GI）出血的主诉，没有任何慢性肝病的体征或柱头。除亲亲婚姻阳性外，个人和家族史均无统计学意义。除了苍白的身体检查外，一般身体检查并不明显，上消化道内窥镜检查显示了可绑扎的食管静脉曲张列，这使我们进行了一系列研究以确定门脉高压的原因。血液检查是非特异性的,虽然影像学研究主要是腹部超声，CT腹部和骨盆对比，磁共振胰胆管造影（MRCP）使我们确认了以门脉高压表现为主要特征的右肝叶CS的诊断。肝活检证实诊断为右侧囊性扩张伴先天性肝纤维化。
