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Abstract：
Caroli disease is a rare congenital pathology caused by mutation of the PKHD1 gene (polycystic kidney and hepatic disease 1), also responsible for autosomal recessive polycystic kidney disease. Characterized by segmental and multifocal dilatation of the large intrahepatic bile ducts, classic disease involves only malformation of the biliary tract. The association with congenital hepatic fibrosis is called Caroli syndrome. We describe the case of an 84-year-old man with Caroli syndrome diagnosed in 1997 by liver biopsy. The CT scan revealed massive hepatomegaly, extending to the pelvic region, and almost total replacement of the parenchyma by numerous cystic formations, no evidence of bile duct dilatation, and no ascites or splenomegaly suggestive of portal hypertension. The atypical clinical presentation, with no reported complications, resembles that of a space-occupying lesion with an indolent course, previously misdiagnosed as metastatic neoplasm.
CONCLUSIONS: We describe a case of advanced and rare Caroli syndrome with an atypical clinical presentation of a space-occupying lesion with slow progression.The atypical presentation could be misdiagnosed as metastatic neoplasm.
CONCLUSIONS: We describe a case of advanced and rare Caroli syndrome with an atypical clinical presentation of a space-occupying lesion with slow progression.The atypical presentation could be misdiagnosed as metastatic neoplasm.
摘要：
Caroli病是由PKHD1基因突变（多囊肾和肝病1）引起的罕见先天性病理，也负责常染色体隐性遗传性多囊肾病。以大型肝内胆管的节段性和多灶性扩张为特征，经典疾病仅涉及胆道畸形。与先天性肝纤维化的关联称为Caroli综合征。我们描述了1997年通过肝活检诊断为Caroli综合征的84岁男子的病例。CT扫描显示大量肝肿大,延伸到骨盆区域，几乎完全被许多囊性结构取代了薄壁组织，没有胆管扩张的证据,无腹水或脾肿大提示门静脉高压症。不典型的临床表现，没有报告的并发症，类似于具有惰性病程的占位性病变，以前误诊为转移性肿瘤。
结论：我们描述了一例晚期和罕见的Caroli综合征，其非典型临床表现为进展缓慢的占位性病变。不典型表现可误诊为转移性肿瘤。
结论：我们描述了一例晚期和罕见的Caroli综合征，其非典型临床表现为进展缓慢的占位性病变。不典型表现可误诊为转移性肿瘤。
