DOI: 10.12890/2023_003794

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

Authors

  • Fabio Caleça Emidio Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal
  • Rafaela Costa Pereira Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 2; Faro, Portugal
  • Rosário Blanco Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 2; Faro, Portugal
  • Pedro Santos Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal
  • Teresa Abegão Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal
  • Claudia Fitas Centro Hospitalar Universitário do Algarve – Hospital de Faro, Serviço de Medicina 1; Faro, Portugal

fabiocalessa@gmail.com

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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References

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Published

2023-03-18

Issue

Vol. 10 No. 3 (2023)

Categories

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 [Internet]. 2023 Mar. 18 [cited 2026 Nov. 3];10(3). Available from: https://ejcrim.com/index.php/ejcrim/article/view/3794

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