DOI: 10.1148/radiol.2203000825
(Radiology. 2001;220:720-723.)
© RSNA, 2001
Case 38: Caroli Disease and Renal Tubular Ectasia1
Ann S. Fulcher, MD,
Mary Ann Turner, MD and
Arun J. Sanyal, MD
1 From the Departments of Radiology (A.S.F., M.A.T.) and Internal Medicine, Division of Gastroenterology (A.J.S.), Medical College of Virginia of Virginia Commonwealth University, 401 N 12th St, PO Box 980615, Richmond, VA 23298-0615. Received April 18, 2000; revision requested June 9; revision received June 16; accepted June 28. Address correspondence to A.S.F. (e-mail: asfulche@hsc.vcu.edu).
Index terms: Bile duct radiography, 76.11 • Bile ducts, CT, 76.12112 • Bile ducts, diseases, 76.288 • Diagnosis Please • Kidney, diseases, 81.3123
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HISTORY
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A 12-year-old girl presented with a temperature of 105°F (40.6°C) and intermittent abdominal pain of 2 days duration. Laboratory analysis showed an elevated level of serum alkaline phosphatase. Radiologic evaluation included abdominal computed tomography (CT).
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IMAGING FINDINGS
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Contrast material–enhanced transverse CT images of the liver showed saccular dilatation of the intrahepatic bile ducts that was consistent with Caroli disease (Fig 1a, Fig 1b). The intrapancreatic segment of the extrahepatic bile duct was normal (Fig 1c). The morphology of the liver was normal, but the liver was slightly enlarged. There was no evidence of splenomegaly, varices, or other findings of portal hypertension. A contrast-enhanced transverse CT image of the kidneys showed multiple linear structures of low attenuation that represented the dilated tubules characteristic of renal tubular ectasia in the renal medulla; the rounded structures of low attenuation in the medulla represented cysts (Fig 1c). Similar structures did not involve the renal cortex. Renal calculi were not identified at CT.
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Figure 1a. (a, b) Consecutive transverse contrast-enhanced CT images of the liver show rounded low-attenuation structures (short arrows) that are inseparable from the dilated intrahepatic bile ducts (long arrow) and that represent saccular dilated intrahepatic bile ducts consistent with Caroli disease. (c) Transverse contrast-enhanced CT image of the kidneys demonstrates multiple rounded (long straight arrows) and linear (short solid arrow) structures of low attenuation in the renal medulla that are representative of cysts and dilated renal tubules, respectively. Similar structures were not present in the renal cortex. Renal calculi were not identified. A minimally dilated intrahepatic bile duct (curved arrow) is noted; the intrapancreatic segment of the extrahepatic bile duct is normal (open arrow). The spleen (*) is normal in size; there is no evidence of varices or other manifestations of portal hypertension.
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Figure 1b. (a, b) Consecutive transverse contrast-enhanced CT images of the liver show rounded low-attenuation structures (short arrows) that are inseparable from the dilated intrahepatic bile ducts (long arrow) and that represent saccular dilated intrahepatic bile ducts consistent with Caroli disease. (c) Transverse contrast-enhanced CT image of the kidneys demonstrates multiple rounded (long straight arrows) and linear (short solid arrow) structures of low attenuation in the renal medulla that are representative of cysts and dilated renal tubules, respectively. Similar structures were not present in the renal cortex. Renal calculi were not identified. A minimally dilated intrahepatic bile duct (curved arrow) is noted; the intrapancreatic segment of the extrahepatic bile duct is normal (open arrow). The spleen (*) is normal in size; there is no evidence of varices or other manifestations of portal hypertension.
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Figure 1c. (a, b) Consecutive transverse contrast-enhanced CT images of the liver show rounded low-attenuation structures (short arrows) that are inseparable from the dilated intrahepatic bile ducts (long arrow) and that represent saccular dilated intrahepatic bile ducts consistent with Caroli disease. (c) Transverse contrast-enhanced CT image of the kidneys demonstrates multiple rounded (long straight arrows) and linear (short solid arrow) structures of low attenuation in the renal medulla that are representative of cysts and dilated renal tubules, respectively. Similar structures were not present in the renal cortex. Renal calculi were not identified. A minimally dilated intrahepatic bile duct (curved arrow) is noted; the intrapancreatic segment of the extrahepatic bile duct is normal (open arrow). The spleen (*) is normal in size; there is no evidence of varices or other manifestations of portal hypertension.
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Magnified conventional radiographs of the right and left kidneys obtained without abdominal compression 20 minutes after enhanced CT showed dilated renal tubules and helped confirm renal tubular ectasia; a right medullary cyst was present (Fig 2). Endoscopic retrograde cholangiography demonstrated saccular dilatation of the intrahepatic bile ducts characteristic of Caroli disease (Fig 3). The extrahepatic bile duct was normal. These findings were indicative of the simple type of Caroli disease.
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Figure 2a. Magnified anteroposterior conventional radiographs of the (a) right and (b) left kidneys obtained without abdominal compression 20 minutes after contrast-enhanced CT show dilated renal tubules (arrows) characteristic of renal tubular ectasia. An ovoid structure (arrowhead) that lies adjacent to a calix in the right kidney does not opacify and represents a medullary cyst. (Images courtesy of Stephanie E. Spottswood, MD, Department of Radiology, Medical College of Virginia of Virginia Commonwealth University, Richmond.)
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Figure 2b. Magnified anteroposterior conventional radiographs of the (a) right and (b) left kidneys obtained without abdominal compression 20 minutes after contrast-enhanced CT show dilated renal tubules (arrows) characteristic of renal tubular ectasia. An ovoid structure (arrowhead) that lies adjacent to a calix in the right kidney does not opacify and represents a medullary cyst. (Images courtesy of Stephanie E. Spottswood, MD, Department of Radiology, Medical College of Virginia of Virginia Commonwealth University, Richmond.)
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Figure 3. Anteroposterior endoscopic retrograde cholangiogram shows saccular dilatation of the intrahepatic bile ducts (straight arrows) indicative of Caroli disease. The extrahepatic bile duct (curved arrow) is normal. The gallbladder (GB) is partially opacified.
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DISCUSSION
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Caroli disease, also known as communicating cavernous ectasia, is a congenital disease characterized by saccular dilatation of the intrahepatic bile ducts. Although Vachell and Stevens (1) and McWhorter (2) reported cases of cystic dilatation of the intrahepatic bile ducts as early as 1906 and 1939, respectively, the specific features of the disease were described by Caroli et al (3) in 1958. In their original description, Caroli et al noted that the disease is characterized by (a) congenital dilatation of the segmental intrahepatic bile ducts; (b) formation of intraductal calculi and development of cholangitis; (c) absence of periportal fibrosis, cirrhosis, and portal hypertension; and (d) association with renal tubular ectasia and other forms of renal cystic disease (3).
Since this original description, Caroli disease has been noted to occur in two forms—the simple type that correlates with the original description and the periportal fibrosis type (4). Both types are characterized by saccular dilatation of the intrahepatic bile ducts, have an autosomal recessive inheritance pattern, and may be expressed early or late in life (4,5). The simple type is the rarer of the two and is complicated by stasis, intraductal calculus formation, and infection (4). As a result, patients have recurrent cholangitis, hepatic abscesses, and pain but remain anicteric and do not develop cirrhosis. Although hepatic biopsy results reveal dilatation of the segmental bile ducts, the hepatic parenchyma is normal (4,6).
The second, and more common, form of Caroli disease is typified by periportal fibrosis that results in cirrhosis and portal hypertension (4). Clinically, patients have hepatosplenomegaly and variceal hemorrhage, as well as cholangitis and hepatic abscesses. In contrast with hepatic biopsy results in patients with the simple form of Caroli disease, hepatic biopsy results in those with the periportal type show not only biliary ductal dilatation but also proliferation of the bile ductules and fibrosis (6).
The pathogenesis of Caroli disease is related to complete or partial arrest of remodeling of the ductal plate, which is a layer of hepatic precursor cells that surrounds the portal venous branches and which is the anlage of the intrahepatic bile ducts (7). Incomplete remodeling of the ductal plate leads to persistence of embryonic biliary ductal structures and is known as a ductal plate malformation. In the simple type of Caroli disease, there is malformation of the ductal plate of the large central intrahepatic bile ducts. In the periportal type of Caroli disease, there is malformation of the ductal plates of the central intrahepatic bile ducts and the ductal plates of the smaller peripheral bile ducts, with the latter leading to the development of fibrosis (7).
Regardless of the type of Caroli disease, there is usually evidence of renal cystic disease, often renal tubular ectasia (4,5,8–10). Although renal tubular ectasia may not lead to symptoms and may simply be detected incidentally, renal tubular ectasia may result in calculus formation, recurrent pyelonephritis, and hypertension (8,10).
The major imaging features of Caroli disease include saccular dilatation of the intrahepatic bile ducts, intraductal calculi, and, in the case of the periportal fibrosis type, the additional findings of cirrhosis, splenomegaly, and varices. Both endoscopic retrograde cholangiopancreatography and percutaneous transhepatic cholangiography permit depiction of the dilated bile ducts and the intraductal calculi and are considered the accepted means of establishing the diagnosis (11,12). More recently, magnetic resonance cholangiopancreatography has been used to diagnose Caroli disease in a noninvasive fashion (13,14).
Ultrasonographic (US) and CT results may also suggest the diagnosis of Caroli disease. In addition to the dilated intrahepatic bile ducts they noted at US, Marchal et al (15) noted echogenic septa that completely or incompletely traversed the dilated lumen of the bile ducts, a finding they referred to as intraductal bridging. Marchal et al (15) also detected small portal venous branches partially or completely surrounded by dilated bile ducts. These findings correlated with histologic evidence of persistent embryonic biliary ductal structures indicative of a ductal plate malformation. Similar findings may be observed at CT. Choi et al (16) described the central dot sign that represents a small enhancing portal vein surrounded by dilated intrahepatic bile ducts at CT.
The imaging features of renal tubular ectasia include calculi in the renal pyramids, as noted at conventional radiography, and dilatation and often irregularity of renal tubules, detected at intravenous urography (8). The dilated irregular renal tubules characteristic of renal tubular ectasia should not be confused with the normal papillary blush related to concentration of contrast material in the renal pyramids. Normal papillary blush appears as fine uniform enhancement of the pyramids and usually occurs in conjunction with ureteral compression (17). The calculi that form in the dilated tubules associated with renal tubular ectasia may be identified at US and nonenhanced CT. In addition, the dilated tubules may be noted at CT as structures of low attenuation confined to the renal medulla (18,19). Cysts located in the renal medulla also occur as part of the spectrum of renal cystic disease in association with Caroli disease (10).
Because of the characteristic appearance of the bile ducts and the frequent association with renal tubular ectasia, the differential diagnosis of Caroli disease is limited. At times, cholangitis may result in intrahepatic abscesses that communicate with the bile ducts and mimic Caroli disease. However, the margins of the abscesses are irregular, unlike the ductal walls in Caroli disease, and there is usually extrahepatic biliary ductal dilatation related to an obstructing calculus or tumor.
Although recurrent pyogenic cholangitis is associated with ductal dilatation and biliary calculi, in recurrent pyogenic cholangitis the dilatation involves both the intrahepatic and extrahepatic bile ducts and is not saccular in nature. In addition, the biliary calculi of recurrent pyogenic cholangitis are castlike and often fill the ductal lumen, unlike the calculi of Caroli disease, which are not castlike.
While polycystic hepatic disease manifests as hepatic cysts that may be mistaken for saccular biliary dilatation at CT or US, these cysts do not communicate with each other or the biliary tract and do not opacify at endoscopic retrograde cholangiopancreatography or percutaneous transhepatic cholangiography. The hepatic cysts that occur in polycystic hepatic disease are usually numerous and are not associated with biliary ductal dilatation. Although patients with polycystic hepatic disease often harbor renal cysts, the cysts are not confined to the renal medulla.
Primary sclerosing cholangitis may be considered in the differential diagnosis of Caroli disease, since primary sclerosing cholangitis demonstrates biliary dilatation and may be associated with intraductal calculi, cirrhosis, and portal hypertension. However, the degree of ductal dilatation of primary sclerosing cholangitis is not as great as that of Caroli disease and is usually not saccular in nature. Primary sclerosing cholangitis often shows isolated obstructions of the intrahepatic ducts, whereas Caroli disease does not.
While medullary cystic disease has cysts in the renal medulla as its main imaging finding, this disease is not associated with biliary dilatation and is clinically distinct from Caroli disease in that patients present with polyuria and polydipsia related to the decreased ability of the kidneys to concentrate urine.
The long-term prognosis for Caroli disease is poor and is related to the development of cholangitis, cirrhosis, and portal hypertension (20). An additional complication is that of cholangiocarcinoma, which occurs in approximately 7% of cases (21,22). In the treatment of Caroli disease, neither external drainage procedures nor biliary-enteric anastomoses are effective in completely decompressing the biliary tract or in preventing cholangitis. However, patients with disease limited to a lobe or segment of the liver may benefit from hepatic lobectomy or segmentectomy (20,23). In a limited number of patients, Caroli disease has been treated with extracorporeal shock wave lithotripsy and biliary acids, as well as hepatic transplantation (24,25).
Our congratulations to the 45 individuals who submitted the most likely diagnosis (Caroli disease and renal tubular ectasia) for Diagnosis Please, Case 38. Credit was given only if both the specific liver and the specific renal components were mentioned. The names and locations of the individuals, as submitted, are as follows:
- Nabil Ammouri, MD, Zahle, Lebanon
- Lionel Arrivé, Paris, France
- Farid Ben Chehida, MD, Bab Saadoun, Tunisia
- Nadia Bouzar, MD, Paris, France
- Giuseppe Brancatelli, MD, Palermo, Italy
- Michael P. Buetow, MD, Okemos, Mich
- Jay M. Colby, MD, Shrewsbury, Mass
- Kemal Demir, MD, Ataköy, Istanbul, Turkey
- Dra. Estela Di Nella, Mar del Plata, Argentina
- Sandra K. Fernbach, MD, Evanston, Ill
- Francis Flaherty, MD, Ridgefield, Conn
- Irwin M. Freundlich, Tucson, Ariz
- William Gonser, MD, Fairfield, Calif
- Manish Goyal, Saskatoon, Saskatchewan, Canada
- Herbert F. Gramm, MD, Boston, Mass
- Yukihiro Hama, MD, Tokorozawa, Japan
- Lowrey H. Holthaus, MD, Richmond, Va
- Mindy M. Horrow, MD, Philadelphia, Pa
- Jer-Shyung Huang, MD, Kaohsiung, Taiwan
- Muhammad Umar Islam, FRCR, Halifax, Nova Scotia, Canada
- Douglas S. Katz, MD, Mineola, NY
- Steven A. Klein, MD, Worcester, Mass
- Arlene Klink, MD, Irvine, Calif
- Glenn Krinsky, New York, NY
- Yu-Ting Kuo, MD, Kaohsiung, Taiwan
- Mario Laguna, West Allis, Wis
- Eduardo Lassalle, MD, Quilmes, Argentina
- Dr. Khalid Latief, Nottingham, United Kingdom
- Myron M. Levitt, East Brunswick, NJ
- Manabu Minami, MD, Tokyo, Japan
- Hidetoshi Miyake, MD, Oita, Japan
- Chuck Nicolette, MD, Odessa, Tex
- Pedro Pardo Moreno, Granada, Spain
- Hemang Jayendra Pathak, MD, New Haven, Conn
- Nicola Pelosi, MD, Palmanova, Italy
- Steven Perlmutter, MD, Mineola, NY
- Dr. Jose Maria Pinto Varela, Toledo, Spain
- Carlos H. Previgliano, MD, Salta, Argentina
- Shawn P. Quillin, MD, Charlotte, NC
- Enrique Remartinez Escobar, MD, Melilla, Spain
- Mathieu Rodallec, Paris, France
- Darrin S. Smith, MD, Tulare, Calif
- Douglas L. Teich, MD, Brookline, Mass
- Christopher Vittore, MD, Rockford, Ill
- Howard C. Williams, MD, Lake Success, NY
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ACKNOWLEDGMENTS
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The authors express their appreciation to Stephanie E. Spottswood, MD, for contributing the images in Figure 2.
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FOOTNOTES
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Part 1 of this case appeared 4 months previously and may contain larger images.
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REFERENCES
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Vachell HR, Stevens WM. Case of intrahepatic calculi. Br Med J 1906; 1:434-436.[Free Full Text]
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Choi BI, Yeon KM, Kim SH, Han MC. Caroli disease: central dot sign in CT. Radiology 1990; 174:161-163.[Abstract/Free Full Text]
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Hinkel CL. Opacification of the renal pyramids in intravenous urography. AJR Am J Roentgenol 1957; 78:317-322.
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Boag GS, Nolan R. CT visualization of medullary sponge kidney. Urol Radiol 1988; 9:220-221.[Medline]
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Reed JR, Rutsky EA, Witten DM. Medullary sponge kidney presenting as polycystic renal disease. South Med J 1984; 77:909-912.[Medline]
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Watts DR, Lorenzo GA, Beal JM. Congenital dilatation of the intrahepatic biliary ducts. Arch Surg 1974; 108:592-597.[Abstract/Free Full Text]
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Bloustein PA. Association of carcinoma with congenital cystic conditions of the liver and bile ducts. Am J Gastroenterol 1977; 67:40-46.[Medline]
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Dayton MT, Longmire WP, Tompkins RK. Caroli’s disease: a premalignant condition?. Am J Surg 1983; 145:41-47.[CrossRef][Medline]
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Nagasue N. Successful treatment of Caroli’s disease by hepatic resection. Ann Surg 1984; 200:718-723.[Medline]
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Schiano TD, Fiel MI, Miller CM, Bodenheimer HC, Min AD. Adult presentation of Caroli’s syndrome with orthotopic liver transplantation. Am J Gastroenterol 1997; 92:1938-1940.[Medline]
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TOP
HISTORY
IMAGING FINDINGS
