An 84-year-old patient with Caroli syndrome: what is the prognosis of this condition?

Fabio Emidio; Rafaela Pereira; Rosário Blanco; Pedro Santos; Teresa Abegão; Claudia Fitas

doi:10.12890/2023_003794

Fabio Caleça Emidio
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal https://orcid.org/0000-0002-8933-8205
Rafaela Costa Pereira
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 2; Faro, Portugal https://orcid.org/0000-0001-7519-0660
Rosário Blanco
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 2; Faro, Portugal https://orcid.org/0000-0002-6254-181X
Pedro Santos
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal https://orcid.org/0000-0002-8125-5464
Teresa Abegão
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal https://orcid.org/0000-0002-7907-8462
Claudia Fitas
Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal https://orcid.org/0000-0002-6161-1441

Keywords

Caroli disease, polycystic kidney disease, hepatomegaly, intrahepatic bile ducts

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.

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Published: 2023-03-18
Issue: 2023: Vol 10 No 3 (view)

How to cite:

1.

Emidio F, Pereira R, Blanco R, Santos P, Abegão T, Fitas C. An 84-year-old patient with Caroli syndrome: what is the prognosis of this condition?. EJCRIM 2023;10 doi:10.12890/2023_003794.