Caleça Emidio Fabio, Costa Pereira Rafaela, Blanco Rosário, Santos Pedro, Abegão Teresa, Fitas Claudia
Centro Hospitalar Universitário do Algarve - Hospital de Faro, Serviço de Medicina 1, Faro, Portugal.
Centro Hospitalar Universitário do Algarve - Hospital de Faro, Serviço de Medicina 2, Faro, Portugal.
Eur J Case Rep Intern Med. 2023 Feb 28;10(3):003794. doi: 10.12890/2023_003794. eCollection 2023.
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.
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.
卡罗里病是一种由PKHD1基因（多囊肾和肝病1）突变引起的罕见先天性疾病，该基因也与常染色体隐性多囊肾病有关。典型疾病以肝内大胆管的节段性和多灶性扩张为特征，仅累及胆道畸形。与先天性肝纤维化相关的情况称为卡罗里综合征。我们描述了一例1997年经肝活检诊断为卡罗里综合征的84岁男性病例。CT扫描显示肝脏肿大，延伸至盆腔区域，实质几乎完全被大量囊性结构取代，无胆管扩张迹象，也无提示门静脉高压的腹水或脾肿大。非典型的临床表现且无并发症报道，类似于病程缓慢的占位性病变，此前曾被误诊为转移性肿瘤。
我们描述了一例晚期罕见的卡罗里综合征病例，其临床表现为非典型的占位性病变且进展缓慢。这种非典型表现可能被误诊为转移性肿瘤。
