Yonsei Med J.  2006 Feb;47(1):131-134. 10.3349/ymj.2006.47.1.131.

Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant

• Kim JT
• Hur YJ
• Park JM
• Kim MJ
• Park YN
• Lee JS

• KMID: 1715883
• DOI: http://doi.org/10.3349/ymj.2006.47.1.131

Abstract

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.

Keyword

Caroli's syndrome; Caroli's disease; autosomal recessive polycystic kidney disease; choledochal cysts; congenital hepatic fibrosis

MeSH Terms

Polycystic Kidney, Autosomal Recessive/complications/*diagnosis/pathology
Male
Kidney/ultrasonography
Infant
Humans
Hepatic Duct, Common/pathology/ultrasonography
Caroli Disease/complications/*diagnosis/pathology

Figure

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  Fig. 1 Renal ultrasonography showing enlarged, cystic left and right kidneys.

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  Fig. 2 MRI showing fusiform dilatation of the common bile ducts with round and tubular dilatation of the intrahepatic bile ducts.

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  Fig. 3 Ductal plate showing irregularity of the ducts lined by low cuboidal epithelium and polypoid projections into a dilated lumen (Magnified by × 100).

Reference

1. Desmet VJ. Ludwig symposium on biliary disorders-part I. Pathogenesis of ductal plate anomalities. Mayo Clin Proc. 1998. 73:80–89.

2. Levy AD, Rhormann CA Jr, Murakata LA, Lonergan GJ. Caroli's disease: radiologic spectrum with pathologic correlation. AJR Am J Roentgenol. 2002. 179:1053–1057.

3. Totkas S, Hohenberger P. Cholangiocellular carcinoma associated with segmental Caroli's disease. Eur J Surg Oncol. 2000. 26:520–521.

4. 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.

5. Ribeiro A, Reddy RK, Bernstein D, Jeffers L, Schiff ER. Caroli's syndrome in twin sisters. Am J Gastroenterol. 1996. 91:1024–1026.

6. Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol. 2003. 14:76–89.

7. Wang S, Luo Y, Wilson PD, Witman GB, Zhou J. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004. 15:592–602.

8. Zerres K, Rudnik-Schoneborn S, Senderek J, Eggermann T, Bergmann C. Autosomal recessive polycystic kidney disease (ARPKD). J Nephrol. 2003. 16:453–458.

9. Huang SM, Yu Sc, Tsang Ym, Wei Tc, Hsu Sc, Chen KM. Complication of percutaneous transhepatic cholangiography and biliary drainage. J Clin Gastroenterol. 1989. 96:446–452.

10. Harjai MM, Bal RK. Caroli syndrome. Pediatr Surg Int. 2000. 16:431–432.

11. Ros E, Navarro S, Bru C, Gilabert R, Bianchi L, Bruguera M. Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome. Lancet. 1993. 342:404–406.