• Humans
• Liver Transplantation
• Hepatitis B, Chronic/complications
• Caroli Disease/surgery
• Male
• Liver Cirrhosis/surgery
• Liver Cirrhosis/virology
• Adult
• Treatment Outcome

• Caroli’s syndrome
• Case report
• Histopathology
• Molecular Pathology
• PKHD1

• Humans
• Caroli Disease/diagnosis
• Caroli Disease/genetics
• Pathology, Molecular
• Liver Cirrhosis/pathology
• Bile Ducts, Intrahepatic/pathology
• Genetic Diseases, Inborn/pathology

• Banti syndrome
• Caroli disease
• ascites
• massive splenomegaly
• pancytopenia
• portal hypertension

• Female
• Humans
• Adult
• Idiopathic Noncirrhotic Portal Hypertension
• Caroli Disease
• Splenomegaly/complications
• Splenomegaly/diagnostic imaging
• Splenomegaly/surgery
• Pancytopenia
• Hypertension, Portal

• Cysts/diagnosis
• Cysts/therapy
• Hamartoma
• Humans
• Liver Diseases/diagnosis
• Liver Diseases/therapy

• Caroli
• Congenital hepatic fibrosis
• Ductal plate
• Fibrocystic

• choledochal cyst
• complications
• metachronous cancer
• resection

• T32 DK101371 NIDDK NIH HHS
• National Institute of Diabetes and Digestive and Kidney Diseases

Caroli's syndrome is a rare autosomal recessive congenital disorder of the biliary tree characterized by intrahepatic bile duct dilation and hepatic fibrosis. Very few cases have been encountered in routine day-to-day practice. The patients usually present with features of cholangitis such as pain abdomen and jaundice. They may also present with features of chronic liver disease and portal hypertension. Very rarely, they may develop cholangiocarcinoma and present with jaundice, weight loss, and abdominal mass or ascites. Here, we report one such case of a young female who presented to us with features of cholangitis with sepsis and encephalopathy, which was finally diagnosed as Caroli's syndrome. The aim of presenting this case is to learn that even patients with common symptoms of pain abdomen and jaundice may be harboring some rare congenital disease like Caroli's syndrome, as in our case.

• Caroli's disease
• Caroli's syndrome
• cholangitis
• chronic liver disease
• intrahepatic bile duct dilatation

• Caroli disease
• MRI
• bile ducts
• congenital lithiasis

Fibropolycystic liver disorders (FLD) arise from abnormal development of the ductal plate and are classified according to the size of the affected hepatobiliary duct. Congenital hepatic fibrosis (CHF) has small duct involvement characterized by a variable degree of periportal fibrosis and hyperplasia without affecting the liver’s architecture. Caroli’s disease (CD) is a rare autosomal recessive disorder with a prevalence of one case per 1,000,000 people and is characterized by cystic dilation of large intrahepatic ducts. When the disease presents with congenital hepatic fibrosis, it is referred to as Caroli’s syndrome (CS). Patients are usually diagnosed around the age of 20 with episodes of cholangitis, portal hypertension or hepatomegaly. We present the case of a two-year-old male with a previous history of autosomal recessive polycystic kidney disease (ARPKD) who presented to the emergency room with variceal bleeding secondary to portal hypertension. The physical examination showed an acutely ill-looking boy, with evident paleness and distended abdomen. Past medical history was negative for previous gastrointestinal bleeding or episodes of cholangitis. An upper gastrointestinal endoscopy was performed, showing esophageal varices secondary to portal hypertension. Imaging studies revealed hepatosplenomegaly, alterations in liver echogenicity, and dilated saccular bile ducts affecting both liver lobes without observing any apparent obstruction, highly suggestive of CD. A liver biopsy revealed nodular liver tissue with marked fibrosis between nodules, which confirmed the presence of CHF. Both kidneys were increased in size, hyperechoic and with loss of corticomedullary differentiation. FLD commonly present with coexisting hepatobiliary and renal alterations. Therefore, starting at the time of initial diagnosis, all patients with ARPKD should be evaluated to detect liver abnormalities due to the high association. Despite the rarity of CS, especially in early childhood, the association between ARPKD and FLD is well documented. So if this clinical presentation arises, CS should be suspected. 

• autosomal recessive polycystic kidney
• caroli’s syndrome
• congenital hepatic fibrosis
• fibropolycystic liver disorders

Congenital intrahepatic bile duct dilatation without fibrosis is called Caroli disease (CD), and is called Caroli syndrome (CS) when it has fibrotic and cirrhotic liver morphology. The development of intrahepatic carcinoma is described in both conditions, but the reported incidence varies extensively. Potential risk factors for the malignant transformation were not described. Furthermore, conservative or surgical treatment is performed depending on the extent of cystic malformation, hepatic dysfunction and structural hepatic changes, but little is known about which treatment should be offered to patients with CD or CS and cancer.

To further investigate the malignant transformation in these conditions.

A systematic review of the current literature until January 2019 was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. A search using Medline (PubMed) was performed using a combination of Medical Subject Headings terms “caroli disease”, “caroli syndrome”, “tumor”, “malignant”, and “cholangiocarcinoma”. Only human studies published in English were used for this systematic review. The following parameters were extracted from each article: year of publication, type of study, number of patients, incidence of malignant tumor, duration of symptoms, age, sex, diagnostics, identification of tumor, surgical therapy, survival and tumor recurrence.

Twelve retrospective studies reporting the courses of 561 patients (53% females) were included in this systematic review. With a mean age of 41.6 years old (range 23 to 56 years old), patients were younger than other populations undergoing liver surgery. Depending on the size of the study population the incidence of cholangiocarcinoma varied from 2.7% to 37.5% with an overall incidence of 6.6%. There were only few detailed reports about preoperative diagnostic work-up, but a multimodal work-up including ultrasound of the liver, computed tomography, magnetic resonance imaging and endoscopic retrograde cholangiopancreatography was used in most studies. Disease duration was variable with up to several years. Most patients had episodes of cholangitis, sepsis, fever or abdominal pain. Tumor detection was an incidental finding of the surgical specimen in most cases because it is currently often impossible to detect tumor manifestation during preoperative diagnostics. Liver resection or liver transplantation was performed depending on the extent of the biliary pathology and additional alterations of the liver structure or function. No postoperative adjuvant chemotherapy was reported, but chemotherapy was administered in selected cases of tumor recurrence. Overall survival rates after one year were low at 36% and a high recurrence rate of up to 75% during the observation period.

Only few retrospective studies reported a low tumor incidence. Despite the high rate of mortality and tumor recurrence, definite surgical treatment should be offered as soon as possible.

• Malignancy
• Caroli disease
• Caroli syndrome
• Tumor
• Cholangiocarcinoma
• Review

• Adult
• Bile Duct Neoplasms
• Bile Ducts, Intrahepatic
• Caroli Disease/diagnostic imaging
• Caroli Disease/epidemiology
• Caroli Disease/surgery
• Female
• Humans
• Male
• Middle Aged
• Neoplasm Recurrence, Local
• Retrospective Studies
• Young Adult

• Biliary tumors
• Caroli disease
• Choledocholithiasis
• Hepatolithiasis
• Parasitosis

• Alagille Syndrome/physiopathology
• Bile Duct Diseases/drug therapy
• Bile Duct Diseases/etiology
• Bile Duct Diseases/genetics
• Bile Duct Diseases/physiopathology
• Cystic Fibrosis/complications
• Cystic Fibrosis/physiopathology
• Cysts/genetics
• Cysts/physiopathology
• Gastrointestinal Microbiome/physiology
• Humans
• Liver Diseases/genetics
• Liver Diseases/physiopathology
• Molecular Targeted Therapy/methods
• Receptors, Notch/physiology
• Signal Transduction/physiology

• P30 DK034989 NIDDK NIH HHS
• R01 DK079005 NIDDK NIH HHS
• R01 DK096096 NIDDK NIH HHS
• R01 DK101528 NIDDK NIH HHS

• Biliary anatomy
• Computed tomography
• Magnetic resonance cholangiopancreatography
• Outflow obstructions
• Vascular anatomy

• Caroli disease
• Caroli syndrome
• Cholangiocarcinoma
• Liver resection
• Liver transplantation

• Bile Duct Neoplasms/surgery
• Caroli Disease/surgery
• Cholangiocarcinoma/surgery
• Female
• Follow-Up Studies
• Hepatectomy/methods
• Hepatectomy/statistics & numerical data
• Humans
• Liver Cirrhosis/surgery
• Liver Transplantation/statistics & numerical data
• Male
• Middle Aged
• Retrospective Studies
• Symptom Assessment
• Syndrome
• Time Factors
• Treatment Outcome

• Caroli disease
• Cholecystectomy
• Laparoscopy

• Biliary cyst
• Caroli disease
• Choledochal cyst
• Choledochocele
• Congenital
• Liver cyst
• Pediatric

• Cholangiocellular carcinoma
• Primary sclerosing cholangitis
• Surveillance

• Bile Duct Neoplasms/diagnosis
• Bile Ducts, Extrahepatic/pathology
• Bile Ducts, Intrahepatic/pathology
• Cholangiocarcinoma/diagnosis
• Cholangitis, Sclerosing/diagnosis
• Humans
• Population Surveillance

• Caroli’s disease
• Choledochal cyst
• Hepaticoduodenostomy
• Hepaticojejunostomy
• Liver resection