Summary
Three sisters with cystic dilatation of the intrahepatic bile ducts (Caroli’s disease) are reported. The index case, a 41-year-old woman with remittent high fever and right upper quadrant abdominal pain, was diagnosed as Caroli’s disease with hepatic lithiasis and cholangitis based on findings of ultrasonography, computed tomography and endoscopie retrograde cholangiography. Her two older sisters were also examined and found to have the same disease without clinical symptoms. Their symptoms, locations of the dilated ducts and complications all varied. The hereditary mode of Caroli’s disease in 13 families (32 cases) reported in the world literature including our study was examined. While Caroli’s disease is thought to be an autosomal recessive disease, a conclusion on the hereditary mode of transmission could not be made in this study because of an insufficient investigation of family members, especially the parents.
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Caroli J, Soupault R, Kossakowski J, et al. La dilatation polykystique congenitale des voies biliaires intra-hepatiques. Essai de classification. Sem Hop Paris 1958;34:488–495.
Caroli J. Disease of the intrahepatic biliary tree. Clin Gastroenterol 1973;2:147–161.
Hunter FM, Akdamar K, Sparks RD, et al. Congenital dilatation of the intrahepatic bile ducts. Am J Med 1966;40:188–194.
Nava G. Osservazione clinica di due fratelli con alterazioni congenite delle vie biliari intraepatiche. Considerazioni sugli aspetti evolutivi prognostici e terapeutici. Arch Ital Mal Appar Dig 1966; 33:440–450.
Turnberg LA, Jones EA, Sherlock S. Biliary secretion in a patient with cystic dilatation of the intrahepatic biliary tree. Gastroenterology 1968;54:1155–1161.
Belloli G, Dri AV, Campobasso P, et al. Sulla dilatazione congenita segmentaria delle vie biliari intraepatiche o malattia di Caroli. Minerva Pediatr 1972;24:2133–2142.
Tsuchida Y, Saito S. Genetics of hepato-biliary disease in infancy and childhood. Jap J Pediat Surg 1978;10:77–81. (in Japanese)
Frati-Munari AC, Riva H, Gavino JF, et al. Enfermedad de Caroli manifestada por fiebre de origen oscuro en dos hermanos. Gac Med Mex 1983;119:415–419.
Tomita S, Akasaka T, Takakuwa H. Ultrasonographic findings of Caroli’s disease: Three cases in siblings. Jap J Med Ultrasonics 1984;11:177–181. (in Japanese)
Perisic V. Role of PTC and ERCP in diagnostic imaging of the hepatobiliary tree: Caroli’s disease in two siblings. J Pediatr Gastroenterol Nutr 1987;6:647–648.
Iwanaga S, Matsunaga K, Yamamoto K, et al. Caroli’s disease in siblings. Nagasaki Med J 1988;62:557–560. (in Japanese)
Haruta I, Sindou H, Hayashi N, et al. Two cases in siblings of congenital multiple cystic dilatation of peripheral intrahepatic bile ducts (so-called Caroli’s disease). Jpn J Gastroenterol 1989;86: 1335–1339. (in Japanese)
Höglund M, Muren C, Schmidt D. Caroli’s disease in two sisters. Acta Radiologica 1989;30:459–462.
Kim MH, Ryu JS, Yang SK, et al. Three cases of congenital hepatic fibrosis with Caroli’s disease in three siblings. Korean J Int Med 1990;5:101–107.
Foulk WT. Congenital malformations of the intrahepatic biliary tree in the adult. Gastroenterology 1970;58:253–256.
Summerfield JA, Nagafuchi Y, Sherlock S, et al. Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. J Hepatol 1986;2:141–156.
Nakanuma Y, Terada T, Ohta G, et al. Caroli’s disease in congenital hepatic fibrosis and infantile polycystic disease. Liver 1982;2: 346–354.
Marchai GJ, Desmet VJ, Proesmans WC, et al. Caroli disease: high-frequency US and pathologic findings. Radiology 1986;158: 507–511.
Jorgensen M. A stereological study of intrahepatic bile ducts. Acta Path Microbiol Scand Section A 1974;82:21–29.
Jorgensen M. The ductal plate malformation. Acta Path Microbiol Scand 1977;257(suppl):l-88.
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Yoshizawa, K., Kiyosawa, K., Yabu, K. et al. Caroli’s disease in three siblings. Gastroenterol Jpn 27, 780–784 (1992). https://doi.org/10.1007/BF02806532
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DOI: https://doi.org/10.1007/BF02806532