It comprises of congenital dilation of the lower segmental intrahepatic bile duct. Caroli syndrome ectasia of the large and small bile ducts with congenital hepatic fibrosis is more common than caroli disease ectasia of only the large bile ducts. Pdf carolis disease is a rare congenital hepatobiliary disease characterized by multifocal segmental dilatation of. A case of carolis disease in an 8yearsold boy with bilobar involvement of liver, specially. Often caroli disease can be confused with caroli syndrome, which is a related but distinct congenital abnormality. Carolis disease definition of carolis disease by medical. Jul 19, 2017 in addition to the symptoms of caroli disease, people affected by caroli syndrome may also experience liver fibrosis and portal hypertension high blood pressure of the portal vein. Caroli disease and cholangiocarcinoma free download as powerpoint presentation. Despite aggressive medical management, the baby died with severe bleeding complications before potentially life saving multiple organ transplantation could take place.
Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. More detailed information about the symptoms, causes, and treatments of caroli disease is available below symptoms of caroli disease. Review autosomal recessive polycystic kidney disease arpkd and its main presentation in. When hepatic fibrosis occurs, the disease is referred to as carolis syndrome.
Ecr 2018 c2921 carolis syndrome and carolis disease. Carolis syndrome with arpkd suggest role of fibrocystin the protein encoded by the arpkd gene pkhd1 in the pathogenesis. Caroli s disease is a cystic disease of the liver, which has been rarely associated with adult onset polycystic kidney disease. Carolis disease refers to involvement of the bile ducts alone. Two clinical entities can be distinguished, carolis disease in which congenital hepatic impairment is limited to cystic dilatation and carolis syndrome in which congenital hepatic fibrosis coexists. Carolis syndrome combines this cyst formation in large ducts with congenital hepatic fibrosis and is thus thought to represent a sustained insult to development of the intrahepatic biliary system. Carolis syndrome is characterized by multiple segmental cystic or. Abernethy malformation associated with carolis syndrome in a.
Carolis syndrome with autosomal recessive polycystic. The presentation of this fourth case discusses the issues surrounding the treatment of caroli s disease in the setting of a renal transplant. Carolis disease is a rare congenital disease of the liver characterized by cystic dilation of the. In the presence of associated periportal fibrosis congenital hepatic fibrosis and portal hypertension, it is often termed carolis syndrome 2,3.
In most cases, the simple or isolated form of caroli disease is believed to result from a spontaneous genetic change mutation that occurs for unknown reasons sporadic. In addition to the symptoms of caroli disease, people affected by caroli syndrome may. The more common variant is caroli syndrome in which bile duct dilatation is associated with congenital hepatic fibrosis. Liver resection and transplantation in caroli disease and. Any information contained in this pdf file is automatically generated from digital material. Caroli s disease and caroli s syndrome caroli s disease and caroli s syndrome are both characterized by the presence of multiple saccular dilations of the larger segmental intrahepatic bile ducts.
There are about 200 cases described in the international literature and only three in pregnant women. Caroli syndrome, characterized by saccular dilatation of intrahepatic ducts and congenital hepatic fibrosis, is without therapy in part due to its ultrarare prevalence and the apparent lack of availability of a suitable experimental model. This case may represent carolis disease based on mr morphology, although diagnosis could not be confirmed. Caroli syndrome is characterized by the saccular dilatation of intrahepatic bile ducts associated with congenital hepatic fibrosis. Caroli disease symptoms, diagnosis, treatments and causes. Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Show the difference between carolis disease and carolis syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. Association of this anomaly with congenital hepatic fibrosis is named caroli s syndrome cs. In the presence of associated periportal fibrosis congenital hepatic fibrosis and portal hypertension, it is often termed caroli s syndrome 2,3. Caroli disease communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree is a rare inherited disorder characterized by cystic dilatation or ectasia of the bile ducts within the liver. Carolis syndrome is also frequently associated with arpkd, 2, 5 which is a rare, inherited disorder that is believed to be caused by a mutation of the pkhd1 gene.
The availability of small paediatric endoscopes ensured early diagnosis. Caroli disease plus congenital hepatic fibrosis clinical features jaundice, right upper abdominal pain, fever. Carolis disease with evidence of cut at level of hepatic confluence in the porta hepatis with diffuse saculation of intra hepatic ducts. The monolobar involvement of cs is a very rare condition, curable by partial hepatectomy. Clinical progression and presentation of caroli s syndrome is highly variable and symptoms may appear early or late during life. Ursodeoxycholic acid treatment of primary hepatolithiasis in caroli s syndrome. Identification and treatment strategy springerlink. Congenital polycystic dilatation of intrahepatic bile ducts. Caroli disease is limited to the dilatation of larger intrahepatic bile ducts, whereas caroli syndrome describes the combination of small bile ducts dilatation and congenital hepatic fibrosis however, some series show that extrahepatic duct involvement. Carolis disease congenital dilatation of the intrahepatic bile ducts, 247 otherwise known as communicating cavernous ectasia of the intrahepatic ducts 248 is an autosomal recessive disorder in which ultrasound scanning reveals multiple cystic spaces throughout the liver substance fig.
Patients with caroli syndrome have the same clinical characteristics of those suffering from caroli disease, but additionally experience problems with the function of the liver. Yusuf bayraktar, md, series editor po box 2345, beijing 23, china world j gastroenterol 2007 april 7. A rare disorder where the bile ducts inside the liver become enlarged resulting in infection, irritation and gallstone formation. Caroli disease nord national organization for rare disorders. Caroli disease and caroli syndrome are very rare, with an estimated incidence of less than 1 case per 100,000 population. Caroli s disease, or communicating cavernous ectasia of the intrahepatic bile ducts, is an autosomal recessive disorder and is among the ductal plate malformations that occur at different levels in the developing biliary tree, leading to several clinicopathologic entities. Cureus carolis disease as a cause of chronic epigastric. The clinical features of carolis syndrome are a combination of carolis disease bile stasis, recurrent bouts of cholangitis, hepatolithiasis, gallbladder stones, and increased risk of. Caroli disease and caroli syndrome are two rare congenital diseases of the intrahepatic bile ducts. Caroli disease definition of caroli disease by medical. The presentation of this fourth case discusses the issues surrounding the treatment of carolis disease in the setting of a renal transplant. Oct 20, 2017 caroli disease and caroli syndrome are very rare, with an estimated incidence of less than 1 case per 100,000 population. Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts the ducts that carry bile from the liver and renal cysts.
Caroli s disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease arpkd. Caroli syndrome article pdf available in pediatric surgery international 1656. Caroli disease and cholangiocarcinoma epidemiology. Pdf carolis disease and carolis syndrome are two rare congenital diseases of intrahepatic bile ducts. Treatment consists of symptomatic treatment of cholangitis attacks by. Carolis disease is a rare congenital condition characterized by dilation of the intrahepatic biliary tree. Carolis disease is a rare congenital disorder, and occasional cases have been reported from japan and other parts of asia. Caroli s disease refers to involvement of the bile ducts alone. Autosomal dominant polycystic kidney disease with anticipation and carolis disease associated with a pkd1 mutation. Three cases have been reported in the english medline search. In 1958, jacques caroli first described a rare congenital condition in which there was a nonobstructive saccular dilatation of large intrahepatic bile ducts. Caroli disease is a birth defect distinguished by abnormal prenatal development of the bile duct in the liver.
Carolis disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease arpkd. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. Carolis syndrome with autosomal recessive polycystic kidney. Carolis disease combined with congenital hepatic fibrosis andor renal cystic. Caroli disease is a rare congenital disorder characterized by segmental, nonobstructive dilatation of the intrahepatic bile ducts. Hepatology a condition characterized by a diffuse distribution of intrahepatic biliary cysts and other cystic lesionseg, medullary sponge kidneys clinical childhood onseteg, jaundice, episodic fever, pain complications hepatic fibrosis, cirrhosis, portal htn, esophageal bleeding, death in. The treatment of patients with cd depends on the clinical features of the. Exact incidence of msk in patients of carolis disease is not. Caroli disease and syndrome have been described in the same family. Caroli disease is an autosomal recessive disorder characterized by intrahepatic bile duct dilation and renal cysts figure 2figure 2.
The grossly dilated ducts could be detected with ultrasonography. Apr 07, 2007 caroli s syndrome presents a clinical syndrome which is a combination of caroli s disease bouts of cholangitis, hepatolithiasis, and gallbladder stones and those of congenital hepatic fibrosis portal hypertension. Neonatal presentation of carolis disease adc fetal. Carolis disease is a cystic disease of the liver, which has been rarely associated with adult onset polycystic kidney disease. Our patient had caroli syndrome or complex, which comprises caroli.
Feb 28, 2006 caroli s syndrome is also frequently associated with arpkd, 2, 5 which is a rare, inherited disorder that is believed to be caused by a mutation of the pkhd1 gene. Polycystic kidney rat is a novel animal model of caroli s disease associated with congenital hepatic fibrosis. More detailed information about the symptoms, causes, and treatments of caroli disease is available below. Giant choledochal cyst and infantile polycystic kidneys as. This case may represent caroli s disease based on mr morphology, although diagnosis could not be confirmed. It is most commonly associated with autosomal recessive polycystic kidney arpkd. Cureus revisiting caroli syndrome in a tanzanian patient. Treatment with fat soluble vitamin supplementation and. Caroli disease and caroli syndrome are congenital disorders comprising of multifocal cystic dilatation of segmental intrahepatic bile ducts. Carolis disease, or communicating cavernous ectasia of the intrahepatic bile ducts, is an autosomal recessive disorder and is among the ductal plate malformations that occur at different levels in the developing biliary tree, leading to several clinicopathologic entities. Topic highlight clinical characteristics of caroli s syndrome ozlem yonem, yusuf bayraktar. It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis chf. Association of this anomaly with congenital hepatic fibrosis is named carolis syndrome cs.
It is possible that isolated caroli disease occurs as a genetic entity in some families. Caroli s syndrome combines this cyst formation in large ducts with congenital hepatic fibrosis and is thus thought to represent a sustained insult to. Histopathology of a liver biopsy from a patient with type i carolis disease shows cystic dilatation of the. While the pck rat has long been used as a model of fibropolycystic kidney disease, hepatobiliary biophysics in this animal model is incompletely characterized. Caroli disease genetic and rare diseases information center. Caroli disease plus congenital hepatic fibrosis clinical features. Caroli disease is the less common form and is characterized by bile ductular ectasia without other apparent hepatic abnormalities. This manifests as dilatation of the collecting renal tubules. Caroli disease genetic and rare diseases information.
Carolis disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Carolis syndrome belongs to a family of polycystic diseases, involving other organs. Caroli s disease is also classified by todani et al. Caroli disease and cholangiocarcinoma epidemiology organ. Carolis syndrome combines this cyst formation in large ducts with congenital hepatic fibrosis and is. The most viable theory explaining its pathogenesis. Hepatology a condition characterized by a diffuse distribution of intrahepatic biliary cysts and other cystic lesionseg, medullary sponge kidneys clinical childhood onseteg, jaundice, episodic fever, pain complications hepatic fibrosis, cirrhosis, portal htn, esophageal bleeding, death in childhood. Polycystic kidney rat is a novel animal model of carolis disease associated with congenital hepatic fibrosis. Carolis disease was first described in 19581 and is characterised by congenital segmental saccular dilatation of the intrahepatic bile ducts. Carolis syndrome can also lead to cirrhosis of the liver in some patients, 5 as opposed to our patient, who did. Carolis syndrome in a post renal transplant patient.
We hereby describe a case of caroli syndrome in a young tanzanian female who had abdominal pain and distension since childhood. Remodeling of intrahepatic ducts in a model of caroli. Caroli s disease with evidence of cut at level of hepatic confluence in the porta hepatis with diffuse saculation of intra hepatic ducts. Carolis disease is also classified by todani et al. Abernethy malformation associated with carolis syndrome. Caroli syndrome is a developmental disorder caused by complete or partial arrest of ductal plate remodeling, leading to dilated bile ducts along with fibrosis surrounding the portal tracts. Ursodeoxycholic acid treatment of primary hepatolithiasis in carolis syndrome. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Carolis disease is a very rare congenital malformation, currently included in cystic diseases of the biliary tract, and is characterized by ectasia and dilatation of the intrahepatic bile ducts. On a ct scan, caroli disease can be observed by noting the many fluidfilled, tubular structures extending to the liver.
Final diagnosis focal carolis disease discussion carolis disease, also known as communicating cavernous ectasia of the intrahepatic ducts, is a rare congenital disorder characterized by nonobstructive multiple cystic dilatation of the intrahepatic bile ducts. Carolis disease combined with congenital hepatic fibrosis andor renal. The disease results from the arrest of or a derangement in the normal embryologic remodeling of ducts and causes varying. This showed diffuse cystic dilatation of the intrahepatic ducts, diagnostic of carolis disease fig 1. Carolis syndrome presents a clinical syndrome which is a combination of carolis disease bouts of cholangitis, hepatolithiasis, and gallbladder stones and those of congenital hepatic fibrosis portal hypertension. Clinical progression and presentation of carolis syndrome is highly variable and symptoms may appear early or late during life. A collection of disease information resources and questions answered by our. A neonatal presentation of carolis disease with severe cardiac and progressive renal pathology is described. In addition to the symptoms of caroli disease, people affected by caroli syndrome may also. Renal anomalies which may be associated with carolis disease include medullary sponge kidney msk, cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Aug 16, 2017 abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
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