CYSTIC PATHOLOGY OF BILIARY TRACT: CAROLI'S SYNDROME
DOI:
https://doi.org/10.29237/2358-9868.2020v8i1.p238-243Keywords:
Bile duct diseases, Fibrosis, Caroli DiseaseAbstract
Objectives: to report a case of Caroli Syndrome in an oligosymptomatic patient. Case description: A 21-year-old male patient, a student, presented diffuse and progressive abdominal distension with predominance in the postprandial period. Other gastrointestinal complaints were denied. Biochemical and imaging tests were requested for diagnostic elucidation. On contrast tomography examination of the abdomen, it was possible to evaluate the presence of cystic dilations in intrahepatic biliary tract, in addition to other findings characteristic of the disease. CD is a genetic disorder of autosomal recessive pattern that presents with congenital malformations of the bile ducts, associated to the mutation of the PKHD gene. It often remains asymptomatic until the second decade of life, when it then evolves into acute complications that lead the patient to hospital care. Diagnosis is based on imaging findings and treatment is dependent on the patient's clinical condition, ranging from conservative to hepatic transplantation. Comments: Clinical suspicion and the availability of advanced imaging are essential for the correct diagnosis of the disease, with emphasis on the importance of detailed evaluation and clinical follow-up of the disease, the risk of complications and future neoplastic evolution.
References
1. Issar P, Issar SK. Caroli’s disease. Indian Journal of Gastroenterology. 2014;33(5):500-500.
2. Gu DH, Park MS, Jung CH, Yoo YJ, Cho JY, Lee YH et al. Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct. Clinical and Molecular Hepatology. 2015;21(2):175-179.
3. Acioli ML, Costa LRG, Henriques MSM. Diffuse Caroli’s disease with atypical presentation: a case report. Annals of gastroenterology. 2014;27(1):79-81.
4. Passos ARO, Lessa AS, Santos EA, Souza LAD, Ladeira TECA, Gaspar LR. Doença de Caroli: revisão de literatura. Brazilian Journal of Surgery and Clinical Research (BJSCR). 2018;27(1):103-105.
5. Sato Y, Ren XS, Nakanuma Y. Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model. Int J Hepatol. 2012; 2012:107945.
6. Araújo GF, Serra HO, Santos OJ, Mauricio R, Cuba BF, Santos MCC. Síndrome de Caroli: Um Estudo Familiar. Revista do Hospital Universitário. 2001;2(3):47-51.
7. Umar J, John S. Caroli Disease. StatPearls Publishing. 2018.
8. Correia PC, Morgado B. Caroli's Disease as a Cause of Chronic Epigastric Abdominal Pain: Two Case Reports and a Brief Review of the Literature. Cureus. 2017;9(9):1701.
9. Gunay‐Aygun M. Liver and Kidney Disease in Ciliopathies. Am J Med Genet Part C Semin Med Genet. 2009; 151:296-306.
10. Hao X, Liu S, Dong Q, Zhang H, Zhao J, Su L. Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease. PLOS ONE. 2014;9(4): e92661.
11. Portela AR, Macedo JAG, Moraes FAL, Dias FMP, Almeida PH, Diniz GV. Caroli’s Disease treated with internal bypass. GED gastroenterol. endosc. dig. 2014;33(1):29-32.
12. 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). 2014;17(3):278-83.
13. Silva, FSDS. Casuística da doença de Caroli nos CHUC [Master's thesis]. Coimbra (Portugal): Universidade de Coimbra. Faculdade de Medicina; 2012. Disponível em: https://estudogeral.sib.uc.pt/handle/10316/29231.
14. Hwang MJ, Kim TN. Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. Clin Endosc. 2017;50(4):400-403.
15. Levy AD, Rohrmann Jr CA, Murakata LA, Lonergan GJ. American Journal of Roentgenology 2002;179(4):1053-1057.
16. Moslim AM, Gunasekaran G, Vogt D, Cruise M, Morris-Stiff G. Surgical Management of Caroli's Disease: Single Center Experience and Review of the Literature. J Gastrointest Surg. 2015;19(11):2019-27.
2. Gu DH, Park MS, Jung CH, Yoo YJ, Cho JY, Lee YH et al. Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct. Clinical and Molecular Hepatology. 2015;21(2):175-179.
3. Acioli ML, Costa LRG, Henriques MSM. Diffuse Caroli’s disease with atypical presentation: a case report. Annals of gastroenterology. 2014;27(1):79-81.
4. Passos ARO, Lessa AS, Santos EA, Souza LAD, Ladeira TECA, Gaspar LR. Doença de Caroli: revisão de literatura. Brazilian Journal of Surgery and Clinical Research (BJSCR). 2018;27(1):103-105.
5. Sato Y, Ren XS, Nakanuma Y. Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model. Int J Hepatol. 2012; 2012:107945.
6. Araújo GF, Serra HO, Santos OJ, Mauricio R, Cuba BF, Santos MCC. Síndrome de Caroli: Um Estudo Familiar. Revista do Hospital Universitário. 2001;2(3):47-51.
7. Umar J, John S. Caroli Disease. StatPearls Publishing. 2018.
8. Correia PC, Morgado B. Caroli's Disease as a Cause of Chronic Epigastric Abdominal Pain: Two Case Reports and a Brief Review of the Literature. Cureus. 2017;9(9):1701.
9. Gunay‐Aygun M. Liver and Kidney Disease in Ciliopathies. Am J Med Genet Part C Semin Med Genet. 2009; 151:296-306.
10. Hao X, Liu S, Dong Q, Zhang H, Zhao J, Su L. Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease. PLOS ONE. 2014;9(4): e92661.
11. Portela AR, Macedo JAG, Moraes FAL, Dias FMP, Almeida PH, Diniz GV. Caroli’s Disease treated with internal bypass. GED gastroenterol. endosc. dig. 2014;33(1):29-32.
12. 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). 2014;17(3):278-83.
13. Silva, FSDS. Casuística da doença de Caroli nos CHUC [Master's thesis]. Coimbra (Portugal): Universidade de Coimbra. Faculdade de Medicina; 2012. Disponível em: https://estudogeral.sib.uc.pt/handle/10316/29231.
14. Hwang MJ, Kim TN. Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones. Clin Endosc. 2017;50(4):400-403.
15. Levy AD, Rohrmann Jr CA, Murakata LA, Lonergan GJ. American Journal of Roentgenology 2002;179(4):1053-1057.
16. Moslim AM, Gunasekaran G, Vogt D, Cruise M, Morris-Stiff G. Surgical Management of Caroli's Disease: Single Center Experience and Review of the Literature. J Gastrointest Surg. 2015;19(11):2019-27.
Downloads
Published
2020-07-13
Issue
Section
RELATOS DE CASOS
