PED17. ï½ Caroli disease and caroli syndrome are congenital disorders to the...
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Caroli syndrome . Report of five pediatric cases
S.Mazigh Mrad , I.Selmi , L.Bouzidi , S.Yahyaoui , O.Bouyahia , S.Boukthir , A.Sammoud
Service de pdiatrie infantile C , Hpital denfants de tunis
PED17Caroli disease and caroli syndrome are congenital disorders to the intarhepatic bile ducts . They are both characterized by dilatation of the intrahepatic biliary tree .
The term Caroli disease is limited to ectasia or segmental dilatation of the large intrahepatic ducts . This form is less common than caroli syndrome , in which malformations of small bile ducts and congenital hepatic fibrosis are also present . This process can be either diffuse or segmental and may be limited to one lobe of the liver . Introduction :Data on five patients with the diagnosis of Carolis syndrome were entered into the archives of our institution from Junuary 1990 to December 2000 .
It was composed of three girls and two boys .Material and methods :CasesexAge of diagnosisCosanguineous marriage1F3 yearsNo2F9 monthsFirst degree3F8 yearsFirst degree4M17 monthsNo5M2 years First degreeIn our cases , childs were diagnosed at a relatively young age
The physical examination findings of hard hepatomegaly and firm splenomegaly made us suspect the diagnosis which was then confirmed by ultrasound abdomen or liver biopsy .
Patients with caroli syndrome may have recurrent episodes of cholangitis and are also at risk for associated bacteremia and sepsis (4M/5) .
They may also have complications of portal hypertension as is observed in congenital hepatic fibrosis ( hematemesis or melena secondary to bleedingvarices and ascites 3M/5 )
Associated cystic dilatation of kidneys was seen in 4 cases of our 5 patients ( renal tubular ectasia , medullary sponge kidney , cortical cyst , recessive polycystic kidney disease or rarely autosomal dominant polycystic kidney disease was discrebed ) . These patients are usually asymptomatic but may develop renal stone disease and infections .
It is also associated with a risk of cholangiocarcinoma at a rate of 100 times that of the general population .
Ultrasonography is the initial investigation of choice ; the pure form shows diverticulum like sacculi of intrahepatic biliary tree , more pronounced towards the center and can be segmental or generalized . It consists of portal vein radicles surrounded by the dilated bile ducts .
Kidney may be normal or of variable echogenicity .Radiologic characteristics of carolis syndrome :
Hepatomegaly with bile ducts
Polycystic kidney disease associated to Carolis syndromeScan is an invaluable adjunct that complements ultrasound . It can identify cholangiocarcinoma and hepatic masses not identified by ultrasound .
In the diagnosis of Caroli syndrome , the liver biopsy is not conclusive in all cases ; therefore the rapports of radiology above all the ultrasound scan .
The diagnosis is more difficult to establish in the case of fusiform dilatations of the biliary tracts and endoscopic retrograde cholangiopancreatography is the gold standard in this situation . In our cases , this investigation was not required .
Multiple hypodense rounded areas Dilated intrahepatic bile ducts
Saccular bile duct dilatation in caroli disease
Contrast-enhanced CT scan shows marked intrahepatic ductal dilatationInvolving entire liver . Enhancing central fibrovascular buddles are identified in many of dilated ducts ( central dot sign ) Enlarged spleen is partially visible
Contrast enhanced CT scan shows intra and extrahepatic bile duct dilatation .Many intrahepatic ducts contain peripherally enhancing fibrovascular bundles .
Varices in carolis syndrome associated to ARPKDAxial contrast-enhanced CT scan shows enlarged and tortuous splenic veins , indicating portal hypertension
MRI : Caroli disease and autosomal polycystic kidney disease ( T2 )Ultrasonography is widely available and is often used first in the diagnosis .
CT imaging is excellent for screening patients .
MRI can aid in the diagnosis . Also magnetic resonance cholangiopancreatography can be performed , and images show ductal anatomy well .
ERCP can be also performed in patients with Caroli disease .In conclusion : imaging studies play a major role in the diagnosis of Caroli diseaseCongenital fibrosis is a histopathological diagnosis
Histopathological intrahepatic bile duct ectasia and proliferation are associated with severe periportal fibrosis and confirm the congenital hepatic fibrosis componenet of Carolis syndrome .
Periductal fibrosis and stones were visible macroscopically in 3 patients .histopathology :
Portal bile duct surrounded by chronic inflammation Fibrous portal expansion with bile ductules alongsepta is consistent with congenital hepatic fibrosis The cause appears to be genetic . The simple form in an autosomal dominant trait while the complex form is an autosomal recessive trait .
Females are more prone to caroli disease than males .
Family history may include kidney and liver disease due to the link between caroli disease and ARPKD ( autosomal recessive polycystic kidney disease ) .
Causes :PKHD 1 , the gene linked to ARPKD , has been found mutated in patients with Caroli syndrome .
The genetic basis for the difference between Caroli disease and Carolis syndrome has not be defined .
Location of the PKHD 1 gene on chromosome 6The treatment depends on clinical features and the location of the biliary abnormality .
Antibiotics are used to treat the inflammation of the bile duct and ursoeoxycholic acid for hepatolithiasis (Ursodiol ) .
In diffuse cases of Caroli disease , treatment options include conservative or endoscopic therapy , internal biliary bypass procedures and liver transplantation in carefully selected cases .Treatment :Carolis syndrome is a rare congenital anomaly , it should be included in differential diagnosis in children presenting with abdominal pain and hepatomegaly .
Carolis syndrome and its complications have overlapping radiologic appearances that reflect the underlying pathology of fibrosis , ductal dilatation , cholangitis , stone formation , malignancy and renal cysts when they are associated .
In a genetic level , unbalanced translocation between the chromosome 3 and 8 seems to be responsible . This explains the familial clustering and its association with polycystic kidney disease. The natural history of carolis disease diagnosed antenatally is unclear .
Conclusion : Thank you
Rdte Ins Selmi