[A case of Caroli's disease associated with intrahepatic cholangiocarcinoma].

A 65-year-old male with Caroli's disease had a fast rise in serum CA19-9 level during follow-up. Contrast-enhanced computed tomography (CT) revealed an irregular mass with a 3cm diameter, showing ring-like and delayed improvement in segment 8 of the liver. Gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid-enhanced magnetic resonance imaging (MRI) demonstrated a mass with the hypointense signal on T1-weighted images, mildly hyperintense signal on T2-weighted images, and hypointense signal in the hepatobiliary phase. Positron emission tomography/CT revealed the absorption of (18) F-fluorodeoxyglucose in the hepatic mass and a nodule in the anterior mediastinum. The patient was diagnosed with intrahepatic cholangiocarcinoma and supraclavicular lymph node metastasis and had partial hepatectomy and lymph node dissection. Caroli's disease is an uncommon congenital condition with myriad small cystic dilatations of the peripheral intrahepatic bile duct as the primary lesion. The disease is not only often associated with recurrent cholangitis and hepatolithiasis but is also a high-risk group of intrahepatic cholangiocarcinoma. Caroli's disease requires regular screening for intrahepatic cholangiocarcinoma utilizing suitable imaging modalities, such as CT and MRI, as well as tumor marker testing.

Esophagogastric variceal bleeding as a debut of Caroli's syndrome.

Caroli's disease is a congenital disease characterized by saccular or cystic dilatations of intrahepatic bile ducts. It is called Caroli's syndrome (CS) when intrahepatic dilations are associated with congenital hepatic fibrosis. CS is an infrequent cause of gastrointestinal bleeding in young people that should be considered when saccular dilatations of the bile duct are associated with portal hypertension (PHT). We present a rare case with gastrointestinal bleeding as first manifestation of CS: A 13-year-old woman with no relevant medical history was admitted to the hospital with an episode of hematemesis.

Diffuse Versus Localized Caroli Disease: A Comparative MRCP Study.

OBJECTIVE. The purpose of this multicenter retrospective study was to assess the MRCP features of Caroli disease (CD). MATERIALS AND METHODS. Sixty-six patients were identified from 2000 to 2019. The inclusion criteria were diagnosis of diffuse or localized CD mentioned in an imaging report, presence of intrahepatic bile duct (IHBD) dilatation, and having undergone an MRCP examination. The exclusion criteria included presence of obstructive proximal biliary stricture and having undergone hepatobiliary surgery other than cholecystectomy. Histopathology records were available for 53 of the 66 (80%) patients. Diffuse and localized diseases were compared by chi-square and t tests and Kaplan-Meier model. RESULTS. Forty-five patients had diffuse bilobar CD ((five pediatric patients [three girls and two boys] with a mean [± SD] age of 8 ± 5 years [range, 1-15 years] and 40 adult patients [26 men and 14 women] with a mean age of 35 ± 11 years [range, 20-62 years]) and 21 patients had localized disease (12 men and 9 women; mean age, 54 ± 14 years). Congenital hepatic fibrosis was found only in patients with diffuse CD (35/45 [78%]), as was a "central dot" sign (15/35 [43%]). IHBD dilatation with both saccular and fusiform features was found in 43 (96%) and the peripheral "funnel-shaped" sign in 41 (91%) of the 45 patients with diffuse CD but in none of the patients with localized disease (p < .001). Intrahepatic biliary calculi were found in all patients with localized disease but in only 16 of the 45 (36%) patients with diffuse CD (p < .001). Left liver atrophy was found in 18 of the 21 (86%) patients with localized disease and in none of the patients with diffuse CD (p < .001). The overall survival rate among patients with diffuse CD was significantly lower than that among patients with localized disease (p = .03). CONCLUSION. Diffuse IHBD dilatation with both saccular and fusiform features associated with the peripheral funnel-shaped sign can be used for the diagnosis of CD on MRCP. Localized IHBD dilatation seems to be mainly related to primary intrahepatic lithiasis.

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study.

BACKGROUND: Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. METHODS: This was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. RESULTS: The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25, 69.2, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p = 0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients. CONCLUSIONS: The majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.

Risk of malignancy in Caroli disease and syndrome: A systematic review.

BACKGROUND: 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. AIM: To further investigate the malignant transformation in these conditions. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Endoscopic therapy for gastro-oesophageal varices of Caroli's syndrome: a case report.

Caroli's disease (CD) is a very rare congenital disorder that is characterized by non-obstructive, segmental and cystic dilatation of intrahepatic ducts. Most patients with CD are asymptomatic, but some patients may suffer from hepatic fibrosis, liver cirrhosis or/and portal hypertension. In complex CD, cystic dilatations of the intrahepatic bile ducts can be present with congenital hepatic fibrosis, liver cirrhosis, portal hypertension, oesophageal varices and autosomal recessive polycystic kidney disease; a condition known as Caroli's syndrome. This report describes the case of a 28-year-old woman that had gastro-oesophageal varices that were caused by hepatic fibrosis and portal hypertension as part of Caroli's syndrome. The patient underwent successful treatment with endoscopic injection sclerotherapy with lauromacrogol and endoscopic variceal obturation using tissue adhesive. There were no immediate complications and the patient remained free of complications at 1-year follow-up. There are no current reports in the published literature describing Caroli's syndrome induced by gastro-oesophageal varices that were treated by a combination of endoscopic injection sclerotherapy and endoscopic variceal obturation. Endoscopic therapy was an effective technique for the treatment of gastro-oesophageal varices in a patient with Caroli's syndrome awaiting a liver transplant.

Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome.

Caroli syndrome is a developmental disorder caused by complete or partial arrest of ductal plate remodeling, leading to dilated bile ducts along with fibrosis surrounding the portal tracts. It is most commonly associated with autosomal recessive polycystic kidney (ARPKD). We report a unique case of Caroli syndrome, diagnosed prenatally at 24 weeks of gestation in a 29-year-old Thai woman. Ultrasound findings revealed the association of a fetal giant choledochal cyst with ARPKD. Autopsy findings showed ductal plate malformation, typical of Caroli syndrome, associated with giant choledocal cyst and ARPKD.

Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis.

Congenital cystic lesions of the bile ducts represent a spectrum of liver and biliary system lesions, resulting from abnormal embryologic development of the ductal plate. These disorders include Caroli disease, choledochal cysts, autosomal dominant polycystic liver disease, congenital hepatic fibrosis, and biliary hamartomas. Each disorder carries a peculiar clinical presentation, prognosis, and risk of complications. Knowledge of radiological findings of fibropolycystic liver diseases is crucial for their appropriate detection and for differential diagnosis with other similar hepatic cystic lesions, in order to avoid relevant misdiagnosis. The aim of this review is to provide an illustrative summary of the most relevant imaging findings of these conditions as encountered on ultrasound, computed tomography, and magnetic resonance imaging, and provide pearls for imaging-based differential diagnosis.

Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.

Fibropolycystic liver diseases, also known as ductal plate malformations, are a group of associated congenital disorders resulting from abnormal development of the biliary ductal system. These disorders include congenital hepatic fibrosis, biliary hamartomas, polycystic liver disease, choledochal cysts and Caroli disease. Recently, it has been thought to include biliary atresia in this group of diseases, because ductal plate malformations could be implicated in the pathogenesis of this disease. Concomitant associated renal anomalies can also be present, such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney and nephronophthisis. These disorders can be clinically silent or can cause abnormalities such as cholangitis, portal hypertension, gastrointestinal bleeding and infections. The different types of ductal plate malformations show typical findings at magnetic resonance (MR) imaging. A clear knowledge of the embryology and pathogenesis of the ductal plate plays a pivotal role to understand the characteristic imaging appearances of these complex diseases. Awareness of these MR imaging findings is central to the detecting and differentiating between various fibropolycystic liver diseases and is important to direct appropriate clinical management and prevent misdiagnosis.

Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. There are only a handful of reported cases of this association in literature. We hereby report a case of Caroli's disease with MSK with nephrocalcinosis. He presented to primary health centre with symptoms of urethral stricture due to lichen sclerosus et atrophicus and was managed with repeated co-axial dilatation but was never evaluated for underlying chronic renal insufficiency due to MSK. The thorough clinical examination and proper evaluation is important in patient of urethral stricture with underlying chronic renal insufficiency to avoid delayed diagnosis, management and related complications.

Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging.

BACKGROUND: Caroli disease is a very rare congenital anomaly characterized by non-obstructive saccular or fusiform dilatation of the intrahepatic bile ducts. It is associated with bile stagnation and hepatolithiasis, which explain the recurrent cholangitis and portal hypertension as a consequence of congenital liver fibrosis. Although there are several reports of diagnosis in childhood and adult life, the prenatal diagnosis using conventional 2-D ultrasound is rare, with few reports in the literature. CASE: We present a case of a 26-year-old primigravid woman at 24 weeks of gestation which 3-D ultrasound in the rendering mode clearly revealed the enlarged fetal kidneys and the increased abdominal volume, confirming the diagnosis of autosomal recessive polycystic kidney disease. The MRI was essential to the prenatal diagnosis of Caroli disease, identifying the congenital saccular dilations of intrahepatic bile ducts.

Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.

We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign. Hepatobiliary system abnormalities such as Caroli's disease should be considered in febrile ADPKD patients, even in the absence of typical clinical signs or symptoms.