Caroli Disease

April 16, 2008

Caroli disease had been diagnosed in a 29-year-old man 5 years earlier based on MRI findings of multiple sacculated, dilated intrahepatic ducts with intrahepatic calculi and calculi in the common bile duct. At the time of diagnosis, the patient had no significant medical history and was asymptomatic. Regular follow-up, including annual serial MRI scanning of the abdomen, was recommended.


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Caroli disease had been diagnosed in a 29-year-old man 5 years earlier based on MRI findings of multiple sacculated, dilated intrahepatic ducts with intrahepatic calculi and calculi in the common bile duct. At the time of diagnosis, the patient had no significant medical history and was asymptomatic. Regular follow-up, including annual serial MRI scanning of the abdomen, was recommended.

Recent MRI results (shown here) were consistent with previous findings. Kidney function tests, which had been performed at clinically indicated intervals, revealed elevated levels suggestive of chronic renal insufficiency. This extrahepatic manifestation of Caroli disease is a component of Caroli syndrome. All other laboratory values were normal.

The French physician J. Caroli first described this rare congenital disorder in 1958. Also known as communicating cavernous ectasia or congenital cystic dilatation of the intrahepatic biliary tree, Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts. The anomaly is probably related to an impediment of ductal plate remodeling in utero at the different levels of the intrahepatic biliary tree. This patient had the classic form of the disease (saccular ductal dilatation); another form of the disease is associated with portal hypertension and hepatic fibrosis. Women are predominantly affected; the average age at diagnosis is 22 years. Because of complications, including cholangitis, sepsis, cholangiocarcinoma, and choledocholithiasis, annual imaging follow-up is essential.

Caroli syndrome, which is associated with kidney disease, occurs in up to 60% of patients with Caroli disease; the renal involvement consists of dilatation of the collecting renal tubules.1 Characteristic kidney lesions include renal tubular ectasia (medullary sponge kidney, cortical cyst) and lesions of adult recessive polycystic kidney disease or, rarely, autosomal dominant polycystic kidney disease.

There is no effective treatment for the disease other than management of complications and liver transplantation. The differential diagnosis includes sclerosing cholangitis, hydatid cyst, choledochal cyst, and hereditary ductal dilatation. The presence of diffuse fusiform dilatation of the extrahepatic duct of 3 cm or less coupled with the characteristic intrahepatic ductal findings may be useful in differentiating patients with Caroli disease from those with a choledochal cyst and biliary dilatation.2
 

References:

REFERENCES:


1.

Yonem O, Bayraktar Y. Clinical characteristics of Caroli disease. World J Gastroenterol. 2007;13:1934-1937.

2.

Levy AD, Rohrmann CA Jr, Murakata LA, Lonergan GJ. Caroli's disease: radiologic spectrum with pathologic correlation. AJR. 2002;179:1053-1057.

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