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

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.

VIEW THE ENTIRE ARTICLE

References

  • Prasad S, Mehta S, Poddar A. A rare case of Caroli's syndrome. Int J Appl Basic Med Res 2021;11:195.
  • Zhang DY, Ji ZF, Shen XZ, Liu HY, Pan BJ, Dong L. Caroli's disease: a report of 14 patients and review of the literature. J Dig Dis 2012;13:491–495.
  • Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007;369:1287–1301.
  • Wang ZX, Li YG, Wang RL, Li YW, Li ZY, Wang LF, et al. Clinical classification of Caroli's disease: an analysis of 30 patients. HPB (Oxford) 2015;17:278–283.
  • Patil S, Das HS, Desai N, Manjunath SM, Thakur BS, Sawant P. Caroli's syndrome - a rare cause of portal hypertension. J Assoc Physicians India 2004;52:261.
  • Umar J, Kudaravalli P, Savio J. Caroli disease. Treasure Island, Florida: StatPearls, 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK513307/?report=printable (accessed 31 Jan 2023).
  • Wu KL, Changchien CS, Kuo CM, Chuah SK, Chiu YC, Kuo CH. Caroli's disease – a report of two siblings. Eur J Gastroenterol Hepatol 2002;14:1397–1399.
  • Millwala F, Segev DL, Thuluvath PJ. Caroli's disease and outcomes after liver transplantation. Liver Transpl 2008;14:11–17.
  • Views: 368
    HTML downloads: 85
    PDF downloads: 311


    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.

    Most read articles by the same author(s)