CASE REPORT

Niger J Paed 2013; 40 (3): 412 –415

Ujunwa AF

Chinawa JM

Obidike E

Abah IU

Caroli disease in a 2 month old

Nigerian-A case report

DOI:http://dx.doi.org/10.4314/njp.v40i4,12

Accepted: 10th December 2012

Abstract We present a rare and

first case of Caroli Disease (CD)

in a child who presents with ab-

dominal distension, regurgitation

of feeds, passage of greenish

stools and fever, typical

ultrasonographic and abdominal

and x-ray findings. The purpose

of presenting this case report is to

highlight the distinctive manifes-

tation of Caroli disease and to

provide a concise report of this

rare disease with the hope that

such information will help identify

patients earlier in the course of

their illness. This will add to medi-

cal literature by helping clinicians

to know that this anomaly is treat-

able in a good setting and if de-

tected early.

(

)

Chinawa JM

Ujunwa AF, Obidike E

josephat.chinawa@unn.edu.ng

Department of Paediatrics

Abah IU

Department of Radiology

University of Nigeria Enugu Campus;

University Of Nigeria Teaching

Hospital Ituku - Ozalla, Enugu.

Enugu, Nigeria.

Key words: Rare disease; child-

hood; polycystic disease; liver

disease; Nigeria.

Introduction

polycstic kidney disease, hepatoma or even intestinal

obstruction, with which it could be confused with, hence

the need to highlight specific features of Caroli disease?

Caroli's syndrome is a rare congenital disorder that in-

volves intrahepatic bile duct ectasia and congenital he-

patic fibrosis, frequently seen with concomitant auto-

Case presentation

1

somal recessive polycystic kidney disease (ARPKD).

Cystic lesions of the liver and bile ducts are classified as

rare diseases. Polycystic kidney disease does not usually

exist alone but can occur as a syndrome. Caroli syn-

drome consists of Caroli disease and congenital hepatic

A two month old Ibo female, presented in the Children

Out-Patient Department of University Of Nigeria Teach-

ing Hospital with a history of abdominal distension and

fast breathing since birth ,regurgitation of feeds and pas-

sage of greenish stools of two weeks duration and fever

of one week duration. Baby’s illness started from birth

when mother noticed abdominal distension which has

since increased in size with regurgitation and vomiting

of non billous material. There was also passage of

greenish stools which is non- mucoid . Fever started

after seven weeks of initial symptoms, high grade, con-

tinuous and transiently relieved by

2

fibrosis. It is Caroli disease if there is segmental dilata-

tion of the large intrahepatic duct. Caroli disease is a

rare disorder and often associated with autosomal reces-

2

sive polycystic kidney disease. The diagnosis depends

on both histology and radiological findings. Treatment

consists of symptomatic treatment of cholangitis by

antibiotics, some endoscopic, radiological, surgical and

drainage procedures. Liver transplantation seems the

ultimate treatment for this disease. Prognosis is fairly

good unless recurrent cholangitis and renal failure devel-

ops.

paracetamol.

Baby was delivered at term in a private hospital, cried

immediately after delivery and weighed 3.5Kg.

This child had never been jaundiced at any time.

Examination findings revealed an acutely ill looking

child with nasogastric tube in situ , febrile with

distended abdomen with visible veins and multiple

masses at the hypogastrim, left iliac fossa and left hypo-

chondrium (mobile ,the smallest measuring about 6cm at

its widest diameter, the mass can be reached above).

There is also hepatomegaly of 8cm below the right

coastal margin, firm, smooth surface and blunt edge.

Weight was 3.9kg

The purpose of presenting this case report is to note the

distinctive manifestation of Caroli disease and to pro-

vide a concise report of this rare disease with the hope

that such information will help identify patients earlier

in the course of their illness.

This case report becomes necessary because there is no

known report among infants in Enugu and it will also

help the clinician to have a high index of suspicion and

early referral to surgeons so as to avert numerous com-

plications that follow it.

In addition, Caroli disease share some features with

certain more commonly encountered conditions like

A diagnosis of Hepatoblastoma to consider polycystic

4

13

kidneys was made initially. Patient was admitted and the

following investigations were requested: plain

Discussion

abdominal X-ray which showed increase hepatic

shadows and chest x-ray which revealed no abnormality.

Abdomino-pelvic ultrasound showed multiple non-

obstructive dilated intrahepatic biliary tree and multiple

pin sized bilateral renal cyst with ‘’central dot sign’’ in

the liver. These features are in keeping with paediatrics

Caroli disease.

Liver function tests showed: Alkaline phosphatase 33U/

L [25-92], Aspertate transaminase 32U/L [5-15] and

Alanine transferase- 6U/L[3-15] which were all normal.

Prothrombin time, serum albumin, and serum bilirubin

were within normal limits. She has been referred to sur-

geons and is being worked up for surgical resection.

Caroli disease and Caroli syndrome are very rare, with

an estimated incidence of less than one case per 100,000

population. Caroli syndrome (ectasia of the large and

1

small bile ducts with congenital hepatic fibrosis) is more

common th₂an Caroli disease (ectasia of only the large

bile ducts). More than 200 cases of Caroli’s disease

have been reported in the literature and the incidence of

Caroli’s syndrom₃ e is more than the pure form of

Caroli’s disease. Kiguli et al in South Africa reported

a case with Caroli syndrome presenting as choleduchal

4

cyst. Much is not reported about this disease in Nigeria

Caroli’s disease which is a component of Calori syn-

drome was a first known distinct clin₅ ical entity reported

by Jacques Caroli in 1958 in France. He described two

forms of the disease: The so called Caroli diasease

which is characterized by dilatation of larger intra-

hepatic bile duct with or without polycystic kidney and

Caroli syndrome which is often associated with polycys-

tic kidne₆y disease, portal hypertension and eventual liver

fibrosis. Our patient had Calori disease since she has

no portal hypertension and liver fibrosis. Many authors

believe that the two conditions are actually different

stages of the same disease characterized by periportal

Fig 1: Ultrsonography of the liver and biliary tree .See areas of

hyperechogenecity (Indicated by arrows) showing the typical

central dot

7

fibrosis and ductal dilatation . Unbalanced translocation

between chromosome 3 and 6 explains the familial clus-

tering and its association with polycystic kidney dis-

8

ease. Caroli syndrome and caloric disease are associ-

ated with renal involvement in 60% of cases and implies

dilatation of collecting renal tubles. This index case also

had renal involvement. In majority of patients with ca-

loric syndrome, portal hypertension will not be present

9

or will appear only later in the disease evolution. The

late appearance of portal hypertension is due to the fact

1

0

that the disease is progressive and dynamic. The pa-

tient is usually asymptomatic but may develop compli-

cations later. In our case, the baby was diagnosed at a

very young age. The fever, passage of greenish stools ,

regurgitation of feeds and non billiary vomiting made

us suspect possible pyloric stenosis ,but the multiple

cysts in the kidneys, hard liver and absence of shoulder

sign in ultrasound made us downplay this suspicion.

However these symptoms mentioned above may be due

to cholangitis and sepsis which are common complica-

tion in caroli disease. This is buttressed by the resolution

of fever when the baby was started on antibiotics. It has

also been noted in a study that patients with Caroli dis-

ease or Caroli syndrome may have a history of intermit-

tent abdominal pain and fever, whic₉h reflects episodes

of bile stasis leading to cholangitis. The physical ex-

amination of enlarged hard liver and multiple masses

made us suspect the diagnosis which was then con-

firmed by ultrasonography.

Fig 2: Showing the infant with abdominal distension

Hepatoblastoma is less likely here because it is rarely

diagnosed at two months and it does not follow a turbu-

lent course and usually seen as an incidental findings

1

with absence of central dot sign and renal involvement.

Though bilirubin and Liver enzymes are normal in hepa-

toblastoma , alph -feto proteins are elevated.

4

14

1

3

Unfortuntely we could not do alpha -feto proteins in this

index case due to financial constraint.

oxycholic acid for hepatolithiasis. Surgical resection

has been used successfully in patients with monolobar

disease. For patients with diffuse involvement, the

8

13

Ultrasonography is the initial investigation of choice.

treatment of choice is orthotopic liver transplantation.

The pure form shows diverticulum like sacculi of intra-

Our patient was placed on antibiotics and is being pre-

pared for surgery.

hepatic biliary tree, more pronounced towards the center

8

(

central dot sign) and can be segmental or generalized.

This is akin to our patient who also had₁₂a “central dot

sign” on ultrasound. Ozlem et al noted that

intraluminal portal vein sign” which consists of portal

Complications from Caroli’s disease are cholangitis,

sepsis, choledocholithiasis,₃hepatic abscess and cholan-

1

“

giocarcinoma later in life. None of these is seen in this

1

3

vein radicles surrounded by the dilated bile duct is diag-

nostic of Caroli’s disease .The state of liver enzymes

depend on the level of affectation, for instance in some

series it was noted that liver functi₁o₂ n was normal while

patient. Patil and co- workers noted that after cholangi-

tis occurs, a large number of patients will die within

5-10 years. The occurence of hepatobiliary malignant

transformation, explained by chronic inflammation of

the biliary tree, has been reported in 7%-14% of

patients. Death is relate₁d₄ to liver failure or complications

of portal hypertension.

that noted by Ozlem et al

showed shortened

prothrombin time and elevated transferase enzymes.

Liver function test was within normal ranges in this

study.

Kidney may be normal or of variable echogenicity,

depending on₈ the extent of involvement by polycystic

renal disease. In our case, abdominopelvic ultrasound

showed multiple cystic lesions in the liver and multiple

bilateral pin sized cysts in kidney. These same findings

were also corroborated by Rupali and colleagues who

reported multiple and small cysts in the liver and kid-

Conclusion

Caroli’s Disease is indeed a rare congenital anomaly.

Surgical correction offers good and long term results. In

a resource poor country like ours, high index of suspi-

cion, early diagnosis and timely referral are warranted so

as to avert death.

Limitation: ERCP and histology were not done due to

financial constraints.

Consent: Written informed consent was sought from the

patient for publication of this case report and

accompanying images.

5

neys respectively. Computerized tomography is an

invaluable adjunct that complements ultra-sound. 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. Endoscopic retrograde cho-

langiopancreatography (ERCP) is the gold standard in

9

this situation. This shows communication between the

sacculi and bile ducts and di₉verticulum-like sacculi of

the intra-hepatic biliary tree. Though ERCP is helpful

in suggesting the need for further investigation, it has

demonstrated difficulty in the visualization of the upper

hepatic duct and may not give a₉specific diagnosis and

thus ultrasonography is preferred.

Authors’ Contribution

All the authors made substantial intellectual contribu-

tions to this case report CJM was involved in the prepa-

ration of the manuscript, revision of the article at various

stages and preparation of the final draft. Other authors

made substantial contributions preparation of the manu-

script, revision and preparation of the final draft.

Conflict of Interest: None

Congenital hepatic fibrosis is a histopathological

8

diagnosis. Parada and colleagues noted that histopa-

Funding: None

thological intrahepatic bile duct ectasia and proliferation

are associated with severe periportal fibrosis and con-

firm the congenital hepatic fibrosis component of

“caroli's syndrome”. Histopathology was not done for

our patient since ultrasonography coul₈d still detect dila-

tation of larger intrahepatic bile duct. It is pertinent to

note that one can still make a diagnosis of Caroli disease

without histopatho₇ logy as ultrasonography still remains

the gold standard.

Acknowledgements

Our gratitude extends to the care giver and patient who

were very cooperative.

Finally we thank the almighty God whose assistance and

ideas through the course of this work is priceless.

The treatment for Caroli's disease includes supportive

care with antibiotics for cholangitis and sepsis, ursode-

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