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Caroli 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 .
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Data on five patients with the diagnosis of Caroli’s
syndrome were entered into the archives of our
institution from Junuary 1990 to December 2000 .
It was composed of three girls and two boys .
Case
sex
Age of
diagnosis
Cosanguineo
us marriage
1
F
3 years
No
2
F
9 months
First degree
3
F
8 years
First degree
4
M
17 months No
5
M
2 years
First degree
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In 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 .
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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 .
Hepatomegaly with bile ducts
Polycystic kidney
Polycystic kidney disease associated to Caroli’s syndrome
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Scan 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 dilatation
Involving 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 caroli’s syndrome associated to ARPKD
Axial contrast-enhanced CT scan shows enlarged and
tortuous splenic veins , indicating portal hypertension
MRI : Caroli disease and autosomal polycystic kidney disease ( T2 )
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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 .
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Congenital 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 Caroli’s syndrome .
Periductal fibrosis and stones were visible
macroscopically in 3 patients .
Portal bile duct surrounded by chronic inflammation
Fibrous portal expansion with bile ductules along
septa is consistent with congenital hepatic fibrosis
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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 ) .
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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 Caroli’s syndrome has not be defined .
Location of the PKHD 1 gene
on chromosome 6
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The 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 .
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Caroli’s syndrome is a rare congenital anomaly , it
should be included in differential diagnosis in children
presenting with 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 .
Thank you
Rdte Inès Selmi