PED17

1. Caroli syndrome . Report of five pediatric casesS.Mazigh Mrad , I.Selmi , L.Bouzidi , S.Yahyaoui , O.Bouyahia , S.Boukthir , A.SammoudService de pédiatrie infantile C , Hôpital d’enfants de tunis PED17

2. Introduction : • Carolidisease and caroli syndrome are congenitaldisorders to the intarhepatic bile ducts . They are bothcharacterized by dilatation of the intrahepaticbiliarytree . • The termCarolidiseaseislimited to ectasia or segmental dilatation of the large intrahepaticducts . This formislesscommonthancaroli syndrome , in which malformations of small bile ducts and congenitalhepaticfibrosis are alsopresent. This processcanbeeither diffuse or segmental and maybelimited to one lobe of the liver .

3. Material and methods : • Data on five patients with the diagnosis of Caroli’s syndrome wereenteredinto the archives of our institution fromJunuary 1990 to December 2000 . • It wascomposed of three girls and two boys .

4. In our cases , childswerediagnosedat a relativelyyoungage • The physicalexaminationfindings of hard hepatomegaly and firmsplenomegaly made us suspect the diagnosiswhichwasthenconfirmed by ultrasound abdomen or liverbiopsy . • 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 melenasecondary 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 .

5. Radiologiccharacteristics of caroli’s syndrome : • Ultrasonographyis the initial investigation of choice ; the pure form shows diverticulumlikesacculi of intrahepaticbiliarytree , more pronouncedtowards the center and canbe segmental or generalized . It consists of portal veinradiclessurroundedby the dilated bile ducts . • Kidneymaybe normal or of variable echogenicity .

6. Hepatomegalywith bile ducts

7. Polycystickidney

8. Polycystickidneydiseaseassociated to Caroli’s syndrome

9. Scan is an invaluableadjunctthatcomplementsultrasound . It canidentifycholangiocarcinoma and hepatic masses not identified by ultrasound . • In the diagnosis of Caroli syndrome , the liverbiopsyis not conclusive in all cases ; therefore the rapports of radiologyabove all the ultrasound scan . • The diagnosisis more difficult to establish in the case of fusiform dilatations of the biliary tracts and endoscopicretrogradecholangiopancreatographyis the gold standard in this situation . In our cases , this investigation was not required .

10. Multiple hypodenserounded areas Dilatedintrahepatic bile ducts

11. Saccular bile duct dilatation in carolidisease

12. Contrast-enhanced CT scan shows markedintrahepaticductal dilatation Involvingentireliver . Enhancing central fibrovascularbuddles are identifiedin many of dilatedducts ( central dot sign ) Enlarged spleen ispartially visible

13. Contrast –enhanced CT scan shows intra and extrahepatic bile duct dilatation . Manyintrahepaticductscontainperipherallyenhancing fibrovascular bundles .

14. Varices in caroli’s syndrome associated to ARPKD Axial contrast-enhanced CT scan shows enlarged and tortuoussplenicveins , indicating portal hypertension

15. MRI : Carolidisease and autosomalpolycystickidneydisease ( T2 )

16. In conclusion : imagingstudiesplay a major role in the diagnosis of Carolidisease • Ultrasonographyiswidelyavailable and isoftenused first in the diagnosis . • CT imagingis excellent for screening patients . • MRI canaid in the diagnosis . Alsomagneticresonancecholangiopancreatographycanbeperformed , and images show ductalanatomywell . • ERCP canbealsoperformed in patients withCarolidisease .

17. histopathology: • Congenitalfibrosisis a histopathologicaldiagnosis • Histopathologicalintrahepatic bile ductectasia and proliferation are associatedwithsevereperiportalfibrosis and confirm the congenitalhepaticfibrosiscomponenet of Caroli’s syndrome . • Periductalfibrosis and stones were visible macroscopically in 3 patients .

18. Portal bile ductsurrounded by chronic inflammation Fibrous portal expansion with bile ductulesalong septais consistent withcongenitalhepaticfibrosis

19. Causes : • The cause appears to begenetic . The simple form in an autosomal dominant trait while the complexformis an autosomalrecessive trait . • Females are more prone to carolidiseasethan males . • Familyhistorymayincludekidney and liverdisease due to the linkbetweencarolidisease and ARPKD ( autosomalrecessivepolycystickidneydisease ) .

20. PKHD 1 , the genelinked to ARPKD , has been foundmutated in patients withCaroli syndrome . • The genetic basis for the differencebetweenCarolidisease and Caroli’s syndrome has not bedefined . Location of the PKHD 1 gene on chromosome 6

21. Treatment : • The treatmentdepends on clinicalfeatures and the location of the biliaryabnormality . • Antibiotics are used to treat the inflammation of the bile ductand ursoeoxycholicacid for hepatolithiasis (Ursodiol ) . • In diffuse cases of Carolidisease , treatment options include conservative or endoscopictherapy , internalbiliarybypassprocedures and liver transplantation in carefullyselected cases .

22. Conclusion : • Caroli’ssyndrome isa rare congenitalanomaly , itshouldbeincluded in differentialdiagnosis in childrenpresentingwith abdominal pain and hepatomegaly . • Caroli’s 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 caroli’s disease diagnosed antenatally is unclear .

23. Thankyou Rdte Inès Selmi