The diagnosis of cystic liver disease has made great progress with the advent of enhanced imaging techniques. At the same time, its management has gradually improved over the past few decades, providing the basis for the development of appropriate diagnostic and treatment guidelines. To this end, the European Association for the Study of the Liver has developed clinical guidelines for the diagnosis and treatment of non-infectious cystic liver disease. This guideline put forward recommendations based on an in-depth review of the relevant literature for addressing clinical issues, including the diagnosis and treament of hepatic cysts, hepatic mucocystic tumors, biliary hamartomas, polycystic liver disease, Caroli disease or Caroli syndrome, biliary hamartomas, and peribiliary cyst.
Humans ; Liver Diseases/pathology* ; Cysts/pathology* ; Caroli Disease/diagnosis* ; Liver Neoplasms/therapy* ; Hamartoma

Caroli Disease ; Humans

Caroli disease is a rare congenital disorder characterized by nonobstructive dilatation of intrahepatic ducts. In cases with symptomatic intrahepatic manifestations, treatment should correspond to the type with hepatic resection for localized disease and transplantation for diffuse forms. If possible, complete resection of the cysts can cure the symptoms and avoid the risk of malignancy. A 66-year-old woman presented to Wuxi Xishan People's Hospital with recurrent intermittent upper quadrant abdominal pain. Further examinations suggested the diagnosis of Caroli disease limited to the left hepatic lobe. She underwent laparoscopic hepatectomy. Pathological examination confirmed the diagnosis of Caroli disease, and no malignancy was found. There were no immediate complications and no long-term complications after one and one-half years of follow-up. Laparoscopic hepatectomy could be a feasible, safe treatment option for localized Caroli disease.
Abdominal Pain ; Aged ; Caroli Disease* ; Cholecystectomy ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Dilatation ; Female ; Follow-Up Studies ; Hepatectomy* ; Humans ; Laparoscopy

This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function. Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive. The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1 (PKHD1) gene, c.9292G>A and c.2507T>C, inherited from each of his parents respectively. The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins, which was possibly unique among Chinese population. The relations between the gene type and the clinical phenotype were not clarified yet. Up till a follow-up eleven months later after the discharge, the patient had a normal hepatorenal function without occurrence of any severe complication yet. The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom. From the above systematic retrospective clinical analysis, as well as the relevant literature review, it's been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive. Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases. Specific to the long-term management of this kind of patients, it's necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.
Asians ; Bile Ducts, Intrahepatic ; Caroli Disease/genetics* ; China ; Genetic Testing ; Heterozygote ; Humans ; Infant ; Kidney ; Liver Cirrhosis ; Male ; Mutation, Missense ; Phenotype ; Polycystic Kidney, Autosomal Recessive/genetics* ; Receptors, Cell Surface/genetics* ; Retrospective Studies

Caroli disease (CD) is a rare congenital malformation of the liver characterized by non-obstructive, segmental, cystic dilatation of the intrahepatic bile ducts (IHDs). The clinical course is usually asymptomatic for the first 5–20 years, and symptoms may seldom occur throughout the patient’s life. Bile stagnation leads to recurrent episodes of cholangitis, stone formation, or liver abscesses, and biliary cirrhosis usually occurs years later. Here we report on a 42-year-old man diagnosed with diffuse-type CD with a characteristic central dot sign, who had multiple intrahepatic and common bile duct (CBD) stones. CBD stones were treated successfully with endoscopic retrograde cholangiopancreatography (ERCP).
Adult ; Bile ; Bile Ducts, Intrahepatic ; Caroli Disease* ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Choledocholithiasis ; Common Bile Duct* ; Dilatation ; Humans ; Liver ; Liver Abscess ; Liver Cirrhosis, Biliary

Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiagnosed as an intraductal papillary neoplasm of the bile duct. The asymptomatic patient was treated with liver segmentectomy.
Adult ; Bile Duct Neoplasms/diagnosis/pathology ; Bile Ducts, Intrahepatic ; Caroli Disease/*diagnosis/pathology ; Diagnostic Errors ; Humans ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

No abstract available.
Adult ; Bile Duct Neoplasms/*pathology ; Bile Ducts, Intrahepatic/*pathology/radiography ; Caroli Disease/*pathology ; Cholangiocarcinoma/*pathology ; Female ; Humans ; Magnetic Resonance Imaging ; Positron-Emission Tomography ; Tomography, X-Ray Computed

Cystic lesions of the liver in the adult can be classified as developmental, neoplastic, inflammatory, or miscellaneous. They occur in symptomatic or asymptomatic patients with or without preexisting liver disease. Many of the lesions represent a diagnostic dilemma for the clinician and usually a single imaging study is not diagnostic. The physician must understand the clinical, radiologic, and pathologic characteristics of these cystic lesions including benign lesion such as simple (bile duct) cyst, autosomal dominant polycystic liver disease, biliary hamartoma, Caroli disease, congenital hepatic fibrosis, and premalignant lesion such as biliary cystadenoma and cystadenocarcinoma. In this review, we review the clinical, radiological, and histologic features of the most common benign cystic liver disease and also present current management options. An understanding of these facts will allow more definitive diagnosis and shorten the diagnostic workup for focal cystic liver lesions.
Adult ; Bile Duct Diseases ; Caroli Disease ; Cystadenocarcinoma ; Cystadenoma ; Cysts ; Fibrosis ; Hamartoma ; Humans ; Liver ; Liver Diseases

Peribiliary cysts, known as cystic dilatation, of the extramural peribiliary glands of the bile duct are rare, and are usually detectable under conditions of pre-existing hepatobiliary diseases such as liver cirrhosis. Preoperative diagnosis is often difficult, because they are usually asymptomatic. Distinction of peribiliary cysts from premalignant or malignant cystic lesions is mandatory. Herein, we report a case of peribiliary cyst, which was preoperatively assumed as unilobar Caroli's diseases in healthy young patients and briefly discuss the management of the condition.
Bile Ducts ; Caroli Disease ; Dilatation ; Humans ; Liver Cirrhosis ; Liver Neoplasms

Here we present the case of an 11-year-old female patient diagnosed with Caroli syndrome, who had refractory esophageal varices. The patient had a history of recurrent bleeding from esophageal varices, which was treated with endoscopic variceal ligation thrice over a period of 2 years. However, the bleeding was not controlled. When the patient finally visited the Emergency Department, the hemoglobin level was 4.4 g/dL. Transhepatic intrajugular portosystemic shunt was unsuccessful. Subsequently, the patient underwent percutaneous transhepatic variceal obliteration. Twenty hours after this procedure, the patient complained of aphasia, dizziness, headache, and general weakness. Six hours later, the patient became drowsy and unresponsive to painful stimuli. Lipiodol particles used to embolize the coronary and posterior gastric veins might have passed into the systemic arterial circulation, and they were found to be lodged in the brain, kidney, lung, and stomach. There was no abnormality of the portal vein on portal venography, and blood flow to the azygos vein through the paravertebral and hemiazygos systems was found to drain to the systemic circulation on coronary venography. Contrast echocardiography showed no pulmonary arteriovenous fistula. Symptoms improved with conservative management, and the esophageal varices were found to have improved on esophagogastroduodenoscopy.
Aphasia ; Arteriovenous Fistula ; Azygos Vein ; Brain ; Caroli Disease* ; Child ; Dizziness ; Echocardiography ; Emergencies ; Endoscopy, Digestive System ; Esophageal and Gastric Varices* ; Ethiodized Oil ; Female ; Headache ; Hemorrhage ; Humans ; Kidney ; Ligation ; Lung ; Phlebography ; Portal Vein ; Portasystemic Shunt, Surgical ; Stomach ; Stroke* ; Veins