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Vol 11 No 1 January 2021

55

Case Report

Caroli’s Syndrome in a 5½-Year-Old Bangladeshi Girl: A Case Report
Nazmul Ahamed1, Dipanwita Saha2, AZM Raihanur Rahman3, Mukesh Khadga4, 

Sharmin Akter5, Md Rukunuzzaman6
Received: 2 March 2020    Accepted: 7 August 2020

doi: https://doi.org/10.3329/jemc.v11i1.63175

Abstract

Caroli’s syndrome is a rare inherited disorder characterized by multiple segmental cystic or saccular 
dilatation of the intrahepatic bile duct associated with congenital hepatic fibrosis. Symptoms of 
Caroli’s syndrome may appear early or late during life and its presentation is highly variable. 
Portal hypertension followed by development of oesophageal varices is the main consequence of 
congenital hepatic fibrosis. Up to 60% of Caroli’s syndrome patients are associated with renal 
involvement. The diagnosis of Caroli’s syndrome mainly depends on histology and imaging method 
that can show the communication between bile ducts and saccule. Important complication is 
cholangitis and later may progress to cholangiocarcinoma. For symptomatic Caroli’s syndrome, 
liver transplantation is the only curative treatment. Here, we report a case of Caroli’s syndrome 
in a 5½ year old girl admitted in the department of Pediatric Gastroenterology and Nutrition, 
BSMMU with the complaints of abdominal distension since birth. Her CT scan report showed type 
V choledochal cyst with large cyst in right lobe of liver and polycystic kidney disease. Endoscopy 
of upper GIT revealed grade II oesophageal varices and MRCP also suggested Caroli’s disease 
(Type V choledochal cyst). Finally, she was diagnosed as a rare case of Caroli’s syndrome (Type 
V choledochal cyst with grade II oesophageal varices with polycystic kidney disease).

Key words: Caroli’s syndrome; Congenital hepatic fibrosis; Cholangitis

J Enam Med Col 2021; 11(1): 55−58

1. Resident, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University 
(BSMMU), Dhaka, Bangladesh

2. Resident, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University 
(BSMMU), Dhaka, Bangladesh

3. Resident, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University 
(BSMMU), Dhaka, Bangladesh

4. Resident, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University 
(BSMMU), Dhaka, Bangladesh

5. Resident, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University 
(BSMMU), Dhaka, Bangladesh

6. Professor and head, Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical 
University (BSMMU), Dhaka, Bangladesh.

Correspondence Nazmul Ahamed dr.nazmulahamed1985@gmail.com 

Introduction

A rare congenital condition Caroli’s disease was first 
described by Jacques Caroli in 1958 characterized 

by multiple segmental saccular or cystic dilatation 
of the intrahepatic bile ducts. It is also classified 



January 2021J Enam Med Col Vol 11 No 1

56

as type V choledochal cysts according to Todani’s 
classification.1,2 Caroli’s disease when associated with 
congenital hepatic fibrosis, it is referred as Caroli’s 
syndrome.3,4 Caroli’s syndrome is generally autosomal 
recessive. The prevalence of CS is approximately one 
in 6,000– 40,000 newborns.4

Case report
A 5½-year-old girl, 2nd issue of non-consanguineous 
parents, got admitted in the department of Pediatric 
Gastroenterology and Nutrition, BSMMU with the 
complaints of gradual abdominal distension since 
birth and low-grade intermittent fever, occasionally 
associated with chill and rigor, highest recorded 
temperature 101℉ for last five days. She was suffering 
from similar type of illness for one year of her age and 
admitted in several private hospitals, but her condition 
did not improve. There was no remarkable past 
history. On examination she was ill-looking, mildly 
pale, anicteric, afebrile, BCG mark present, all vitals 
were in normal limit, anthropometrically well-thrived. 
Her liver edge was 6 cm from right costal margin in 
mid clavicular line, consistency was firm and non-
tender. Spleen was 7 cm enlarged along its long axis, 
ascites was present evidenced by shifting dullness. 
Other physical sign was unremarkable. Laboratory 
investigations showed reduced haemoglobin (Hb 9.4 
g/dL), platelet count 1,00,000/cmm, ESR slightly 

high (30 mm in 1st hr.), liver function test was normal. 
USG of whole abdomen showed hepatic cyst in both 
lobes and bigger both kidneys with high cortical 
echogenicity and loss of renal architecture, renal 
function test was also normal and CT scan report 
showed hepatosplenomegaly, type V choledochal cyst 
with large cyst in right lobe of liver and polycystic 
kidney disease. 

Endoscopy of upper GIT showed grade II oesophageal 
varices which were a result of portal hypertension due 
to development of hepatic fibrosis. Diagnosis was 
confirmed by MRCP that suggested Caroli’s disease 
(Type V choledochal cyst) with large hepatic cyst in 
right lobe of liver. 

Both cholangiography and liver biopsy are helpful 
to establish the final diagnosis, but not possible 
due to financial problem. The child was treated 
conservatively with broad spectrum antibiotics. 
Oral supplementations with vitamin A, D, E, K and 
hematinics were given. Fever resolved within two days 
of admission. By this time, consultation was taken 
from Pediatric Surgery Department, BSMMU and 
advice for definitive treatment liver transplantation 
was given. The parents were counseled regarding the 
disease progression with prognosis and advised to 
come for regular follow-up.

Endoscopy of upper GIT 
(Grade II oesophageal varices)

CT scan of the abdomen showing 
hepatosplenomegaly, areas of 

focal intrahepatic biliary radicals 
dilatation type V choledochal 

cyst with large cyst in right lobe 
of liver and polycystic kidney 

disease

MRCP report suggested Caroli’s 
disease (Type V choledochal 

cyst) with large hepatic cyst in 
right lobe of liver



January 2021J Enam Med Col Vol 11 No 1

57

Discussion 

Caroli’s syndrome is a rare form of congenital disease 
that represents ectasia of intrahepatic bile duct and 
congenital hepatic fibrosis. In 1958, Jacques Caroli 
first reported a case with a distinct clinical entity 
known as Caroli’s disease. Caroli described two 
forms of this disease: the so called “pure form” of 
Caroli’s disease which occurs in a focal or diffuse 
manner, characterized by saccular, communicating 
intrahepatic bile duct dilatation and the second form, 
termed as Caroli’s syndrome having relatively less bile 
duct dilatation, but associated with hepatic fibrosis 
that results in portal hypertension and terminal liver 
failure.3 The ductal plate malformation (DPM), a 
developmental abnormality of the portobiliary system, 
is the basis of the liver disease in CS. The severity 
of DPM and the level of the affected portobiliary 
tree results in a spectrum of abnormalities including 
congenital hepatic fibrosis (CHF) (microscopic bile 
ducts), CS (microscopic and medium size bile ducts) 
and CD (medium and large bile).3,4,5 Many authors 
believe that CD and CS are actually different stages of 
the same disease characterized by peri-portal fibrosis 
and ductal dilatation.6 Depending on whether duct 
dilatation or portal hypertension is the predominant 
pathology, patients present with recurrent cholangitis 
or hematemesis respectively. Associated cystic 
dilatation of kidneys is seen in 60−80% of the cases 
(renal tubular ectasia, medullary sponge kidney, 
cortical cyst, recessive polycystic kidney disease 
or rarely autosomal dominant polycystic kidney 
disease). These patients are usually asymptomatic (as 
far as renal disease is concerned) but may develop 
renal stone disease and infections.3

Caroli’s syndrome is a combination of Caroli’s 
disease (bouts of cholangitis, gall bladder stones and 
hepatolithiasis) and congenital hepatic fibrosis (portal 
hypertension). Our patient presented with abdominal 
distension since birth with recurrent history of 
fever suggesting as cholangitis. On examination, 
patient had hepatomegaly and splenomegaly that 
also indicate developing hepatic fibrosis followed 
by portal hypertension.  The main consequence of 
congenital hepatic fibrosis are portal hypertension 
and the development of oesophageal varices.6 In the 

majority of patients, portal hypertension will not 
be present or will appear only later in the disease 
evolution.7 The late appearance of these symptoms in 
patients with Caroli’s disease suggests that congenital 
hepatic fibrosis is dynamic and progressive.8

As hepatic fibrosis in CS is dynamic and progressive, 
portal hypertension is usually a late feature. Also, 
hepatocellular function of the liver is relatively well 
preserved in the early stages, with liver enzymes being 
either normal or mildly elevated.5,6 Thrombocytopenia 
and leukopenia are present with portal hypertension 
and hypersplenism. The elevated erythrocyte 
sedimentation rate and leukocytosis may indicate 
cholangitis. Renal function tests can be deranged in 
CS having associated renal involvement, as in our 
patient.6 Laboratory findings of our patient showed 
anaemia, platelet count 1,00,000/cmm, slightly high 
ESR, and normal liver function tests.

Definitive diagnosis of CS is confirmed with imaging 
studies such as ultrasonography, endoscopic/
magnetic retrograde cholangiopancreatography, 
computed tomography (central dot sign), radionuclide 
hepatobiliary imaging, intraoperative cholangiography 
and percutaneous transhepatic cholangiography.1,5,6,9 
Ultrasonographyis the initial investigation of choice. 
CT scan is an invaluable adjunct that complements 
ultrasound. It can identify cholangiocarcinoma and 
hepatic masses not identified by ultrasound. The 
diagnosis is more difficult to establish in the case of 
fusiform dilatations of the biliary tracts and endoscopic 
retrograde cholangiopancreatography (ERCP) is 
the gold standard in this situation. ERCP shows 
communication between the sacculi and bile ducts and 
diverticulum-like sacculi of the intra-hepatic biliary 
tree. In our case, ERCP was not required. US of our 
patient showed hepatic cyst in both lobes and bigger 
both kidneys with high cortical echogenicity and loss 
of renal architecture but renal function test was also 
normal. CT scan revealed hepatosplenomegaly, Type 
V choledochal cyst with large cyst in right lobe of 
liver and polycystic kidney disease. 

Endoscopy of upper GIT showed grade II oesophageal 
varices and diagnosis was confirmed by MRCP that 
suggested Caroli’s disease (Type V choledochal cyst) 



January 2021J Enam Med Col Vol 11 No 1

58

with large hepatic cyst in right lobe of liver. 

Though cholangiography and liver biopsy are helpful 
to establish the diagnosis, it was not done in our case 
due to financial crisis.

The treatment is primarily aimed at managing the 
associated complications of recurrent cholangitis, 
hepatic abscesses, biliary calculi and carcinoma. 
Recurrent cholangitis requires drainage which can be 
done by open surgery, positioning of an open stent or 
by percutaneous drainage. However, this treatment is 
just palliative. If the disease is confined to one lobe, 
partial lobectomy is the surgical treatment of choice.10 
In case of diffuse involvement of liver, treatment 
options include conservative management, endoscopic 
therapy (sphincterotomy for clearance of intra-hepatic 
stone), internal biliary bypass procedures and liver 
transplantation.11 Our patient got supportive treatment 
along with antibiotics for suspected cholangitis 
and advice was given for definitive treatment (liver 
transplantation).

Because of silent and slow progression with bouts 
of cholangitis of this rare disease, Caroli’s syndrome 
should be considered as one of the important 
differential diagnoses.

References 

1. Todani T, Watanabe Y, Narusue M, Tabuchi K, 
Okajima K. Congenital bile duct cysts: classification, 
operative procedures, and review of thirty-seven cases 
including cancer arising from choledochal cyst. The 
American Journal of Surgery 1977; 134(2): 263–269.

2. Biliary Cysts. Available at: http://www.uptodate.com. 

Accessed December 2018.

3. Bavikar R, Kulkarni R. Caroli’s syndrome: a case 
report. Curr Pediatr Res 2011; 5(1): 59–60. 

4. Kim JT, Hur YJ, Park JM, Kim MJ, Park YN, Lee 
JS. Caroli’s syndrome with autosomal recessive 
polycystic kidney disease in a two month old infant. 
Yonsei Med J 2006; 47(1): 131–134.

5. Gunay-Aygun M. Liver and kidney disease in 
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6. Yonem O, Bayraktar Y. Clinical characteristics of 
Caroli’s syndrome. World J Gastroenterol 2007; 
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7. De Kerckhove L, De Meyer M, Verbaandert C, 
Mourad M, Sokal E, Goffette P et al. The place of 
liver transplantation in caroli’s disease and syndrome. 
Transpl Int 2006; 19(5): 381–388.

8. Gorka W, Lewall DB. Value of Doppler sonography in 
the assessment of patients with Caroli’s disease. J Clin 
Ultrasound 1998; 26(6): 283–287.

9.  Mrowka C, Adam G, Sieberth HG, Matern S. Caroli’s 
syndrome associated with medullary sponge kidney 
and nephrocalcinosis. Nephrol Dial Transplant 1996; 
11(6):  1142–1145.

10.  Waechter FL, Sampaio JA, Pinto RD, Alvares-da-Silva 
MR, Cardoso FG, Francisconi C et  al. The role of 
liver transplantation in patients with Caroli’s disease. 
Hepatogastro-enterology 2001; 48(39): 672–674. 

11.  Karim AS. Caroli’s disease. Indian Pediatr 2004; 
41(8): 848–850.


