Caroli's Disease Research Articles

Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.

To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI). This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed. Five fetuses with CD were included, three of which had a definite combination of ARPKD and suspected in the other 2. Prenatal ultrasonography revealed multiple intrahepatic bile duct dilatations in four fetuses, each of which displayed the "horn comb" sign in a cross-section of the liver. All five fetuses had abnormal kidney ultrasounds: three showed enlarged and hyperechogenic kidneys and two showed hyperechogenic kidneys. The MRI scans of all fetuses showed a "central dot" (C-DOT) sign in the liver. By MRI, three fetuses had enlarged kidneys, one slightly had hyperintensity kidneys, and one had no significant kidney abnormalities. Pregnancy termination was chosen in all cases. CD may be identified by fetal ultrasound through the characteristic arrangement of intrahepatic dilated bile ducts ("horn comb" sign). Fetal MRI is advantageous for detecting the C-DOT sign, which confirms the diagnosis of CD. In our experience, these findings tend to become apparent in the late second to early third trimester of pregnancy.

Cystic lesions and their mimics involving the intrahepatic bile ducts and peribiliary space: diagnosis, complications, and management.

Biliary and peribiliary cystic lesions represent a diverse group of abnormalities, often discovered incidentally during imaging for unrelated conditions. These lesions, typically asymptomatic, necessitate precise imaging modalities to characterize their nature and determine subsequent clinical actions, such as follow-up imaging, biopsy, or surgical referral. The anatomic location of these cystic lesions, whether biliary or peribiliary, influences both diagnostic and prognostic outcomes. Biliary cystic lesions, such as mucinous cystic neoplasms, intraductal papillary neoplasms of the bile duct, and Caroli disease, require careful monitoring due to their propensity to develop malignancy. In contrast, peribiliary cysts are often associated with chronic liver disease and may indicate disease progression through a gradual increase in cyst size. Accurate differentiation of these lesions from other clinical entities that have overlapping features on imaging, such as microabscesses, bilomas, Langerhans cell histiocytosis, neurofibromatosis, and vascular anomalies such as cavernous transformation of the portal vein, is essential given the divergent management for each. This article focuses on intrahepatic biliary and peribiliary cystic lesions and their mimics, highlighting their imaging characteristics with an emphasis on magnetic resonance imaging and magnetic resonance cholangiopancreatography, differential diagnosis, potential associated complications, and clinical management.

Complications of Caroli's Disease: Two Case Reports and a Literature Review

Caroli's disease is a rare congenital disorder of the bile ducts, characterized by intrahepatic segmental dilatation. It can remain asymptomatic for many years. Imaging, especially hepatobiliary MRI, plays a central role in diagnosis, identifying pathognomonic signs (Dot-sign, cyst communication with bile ducts), and monitoring complications. Treatment primarily involves surgery, ranging from partial resection to liver transplantation for diffuse forms. This article presents two cases: one involving an association with cholangiocarcinoma and another complicated by intrahepatic stones and cholangitis. These cases highlight the major complications, diagnostic approaches, and therapeutic strategies for this rare condition.

Perioperative and Long-Term Outcomes After Combined Liver and Kidney Transplantation: A Single-Center Experience.

Combined liver-kidney transplantation (CLKT) has evolved as a therapeutic option for patients with concurrent end-stage liver and renal diseases. This study evaluates the perioperative and long-term outcomes of CLKT at a single center in Slovenia, highlighting the challenges and successes of simultaneous organ transplantation. We retrospectively analyzed all patients undergoing simultaneous CLKT at the University Medical Centre Ljubljana from April 2014 to June 2023. Data on demographics, cause of liver and kidney disease, operative details, postoperative complications, patient and graft survival, and follow-up were collected and analyzed. Five patients aged 27 to 60 years underwent CLKT within the study period. All transplants involved deceased donors with whole-liver grafts. Indications for CLKT were polycystic liver disease (n = 3), Caroli's disease (n = 1), and alcoholic cirrhosis (n = 1). The mean follow-up duration was 45.2 months, with a 100% survival rate. The incidence of surgical and postoperative complications was low. This pioneering series of simultaneous CLKTs in Slovenia demonstrates the feasibility and effectiveness of the procedure in smaller transplant centers. Despite challenges, including T cell-mediated kidney rejection and surgical complications, the study emphasizes the importance of comprehensive postoperative care and management in optimizing outcomes for CLKT recipients.

Optimal transplant strategy of pediatric liver transplantation for fibropolycystic liver disease: Multicenter retrospective study in Japan.

To assess the preoperative disease characteristics and indications for living donor liver transplantation (LDLT), complications, patient survival, and prognosis after LDLT for fibropolycystic liver disease (FLD) in children. We undertook a cross-sectional survey of patients who underwent LDLT for FLD between January 2002 and December 2020. A total of 35 patients (22 male and 13 female individuals) with FLD were included in this study, of whom 19 (54.3%) had isolated congenital hepatic fibrosis and 16 (45.6%) had Caroli syndrome. Refractory gastrointestinal bleeding was the most frequent symptom related to the indication for LDLT, being found in 48.6% of our patients, followed by uncontrollable cholangitis and ascites. The median age at the time of LDLT was 8.1years old. Of the 27 patients presenting with renal involvement, 13 patients required kidney transplantation (KT). Overall, the renal function after LDLT decreased regardless of renal involvement; however, patients with renal involvement had a significantly lower estimated glomerular filtration rate than those without renal involvement throughout the course of this study (p<0.01). The 5-year overall patient survival rate was 97.1%. Two patients died with a median follow-up of 8.9years after LDLT; one died due to sepsis 2weeks after simultaneous liver-kidney transplantation and the other committed suicide 10years after LDLT. The prognosis of the pediatric patients who underwent LDLT for FLD was excellent. However, an individualized treatment approach based on the status of the renal function and liver disease is important, as a certain proportion of patients require KT.

S4333 Recurrent Acute Cholangitis Secondary to Caroli Syndrome Managed With Liver Transplantation

S4333 Recurrent Acute Cholangitis Secondary to Caroli Syndrome Managed With Liver Transplantation

Suspected Caroli Syndrome in a Dog and Cat: A Rare Case Report

Suspected Caroli Syndrome in a Dog and Cat: A Rare Case Report

Natural history and renal involvement of congenital hepatic fibrosis and caroli disease

Natural history and renal involvement of congenital hepatic fibrosis and caroli disease

A "C" triad: cirrhosis and cholangitis due to Caroli disease.

Abstract Caroli disease (CD) is a rare congenital pathology of probable autosomal recessive inheritance, it is part of the fibrocystic liver diseases and is included in group V of the Todani classification. It is characterized by saccular or cystic dilations of the intrahepatic bile ducts, sometimes associated with congenital liver fibrosis, and is then called Caroli syndrome (CS). The usual clinical manifestation is recurrent abdominal pain secondary to intrahepatic or vesicular stones, and acute cholangitis crises with the consequent formation of intrahepatic abscesses.

Liver-specific DICER1 syndrome model mice develop cystic liver tumors with defective primary cilia.

DICER1 syndrome is a tumor predisposition syndrome caused by familial genetic mutations in DICER1. Pathogenic variants of DICER1 have been discovered in many rare cancers, including cystic liver tumors. However, the molecular mechanisms underlying liver lesions induced by these variants remain unclear. In the present study, we sought to gain a better understanding of the pathogenesis of these variants by generating a mouse model of liver-specific DICER1 syndrome. The mouse model developed bile duct hyperplasia with fibrosis, similar to congenital hepatic fibrosis, as well as cystic liver tumors resembling those in Caroli's syndrome, intrahepatic cholangiocarcinoma, and hepatocellular carcinoma. Interestingly, the mouse model of DICER1 syndrome showed abnormal formation of primary cilia in the bile duct epithelium, which is a known cause of bile duct hyperplasia and cyst formation. These results indicated that DICER1 mutations contribute to cystic liver tumors by inducing defective primary cilia. The mouse model generated in this study will be useful for elucidating the potential mechanisms of tumorigenesis induced by DICER1 variants and for obtaining a comprehensive understanding of DICER1 syndrome. © 2024 The Pathological Society of Great Britain and Ireland.

Central dot sign in Caroli disease

The central dot sign is a non-pathognomonic radiological sign, but suggestive of caroli disease, where the central dot corresponds to fibrovascular bundles surrounded by cystic dilatations of the intrahepatic bile ducts. We present the case of a 24-year-old girl with Caroli disease diagnosed by the central dot sign observed on MRI.

Diagnosis of Caroli Disease with Gadoxetic Acid-Enhanced Magnetic Resonance Imaging

Diagnosis of Caroli Disease with Gadoxetic Acid-Enhanced Magnetic Resonance Imaging

Clinical observation of the patient with monolobar form Caroli disease

Objective. To demonstrate a case of a rare congenital liver disease, Caroli disease, characterized by segmental non-obstructive fibrocystic dilatation of the intrahepatic bile ducts. Main points. Caroli disease was first described by the French doctor Jacques Caroli in 1958. There are 2 types of Caroli disease: True type with dilation of the intrahepatic bile ducts, usually affecting one segment and with a tendency to form stones and develop cholangitis. The second type, which is combined with congenital hepatic fibrosis, polycystic kidney disease and is more common than the true type. When the disease is accompanied by CHF, it is called Caroli syndrome or Grumbach disease. It is important to remember about Crowley’s disease and include it in the differential range of diseases of the biliary tract and liver, such as cholangitis, secondary biliary cirrhosis, portal hypertension of unknown etiology, cholangiocarcinoma. Conclusion.The diagnosis of Caroli disease and Caroli syndrome is made using imaging studies. Treatment is largely supportive and should be individualized, with prognosis depending on the severity of the disease and the presence of concomitant renal dysfunction.

Suspected stenosis in Caroli syndrome: when cholangioscopy can be the game changer

Video 1Cholangioscopy performed during ERCP.

Aggressive Pediatric Adrenal Cortical Carcinoma With a Novel Translocation t(20;22) and intergenic fusion of MN1 and ZNF341: A Case Report and Literature Review

Caroli disease involves several different entities in contrast to Caroli syndrome. We herein report two cases of congenital localized dilatation of the intrahepatic bile ducts exhibiting a unique morphology distinct from other types of Caroli disease. Specifically, the dilatation was limited to the second- and third-order intrahepatic bile ducts, and the dilated bile ducts abruptly connected to normal-sized ducts on both the upstream and downstream sides. Both cases are prenatally diagnosed and have been asymptomatic for nearly a decade. Nine other cases were identified in the English and Japanese literature, suggesting that this is a specific subtype of Caroli disease.

A280 HEPATOBILIARY DISEASE IN INDIVIDUALS LIVING WITH FRAGILE X SYNDROME: A CASE SERIES

Abstract Background Fragile X syndrome is a genetic disorder known to cause intellectual disability through decreased or absent FMR protein (FMRP). Basic science studies have identified potential associations with hepatobiliary inflammation. Clinical reports of liver disease in Fragile X syndrome are however infrequent. Aims We describe 3 individuals living with Fragile X syndrome and chronic liver disease. Methods A case series and literature review were performed. Results The 1st person is a woman with concurrent Fragile X and autosomal recessive polycystic kidney disease, initially seen by Hepatology at 18 y.o. with evidence of hepatic fibrosis on abdominal ultrasound with normal liver enzymes (Table 1). She subsequently developed liver cirrhosis and portal hypertension, as well as biliary duct dilatation seen on MRI. Her overall presentation was thought to be in keeping with Caroli syndrome and congenital hepatic fibrosis, and she is currently pending genetic screening for hepatorenal ciliopathy. The 2nd person is a woman with Fragile X syndrome and ulcerative colitis, who initially presented to Hepatology at 24 y.o. with mixed liver enzyme abnormalities. Lab tests over time revealed immunology suggestive of autoimmune hepatitis (AIH) (Table 1). Subsequent investigations demonstrated primary sclerosing cholangitis (PSC) with cirrhosis. Her disease is currently managed as AIH/PSC overlap syndrome with ursodeoxycholic acid (UDCA), tacrolimus, mycophenolate, and budesonide. The 3rd person is a man with Fragile X syndrome who initially presented to Hepatology at 17 y.o. with acute hepatitis with AIH immunology (Table 1). Liver biopsy at the time demonstrated findings suggestive of early PSC as well as possible AIH. He continued to have progressive cirrhosis as well as overt PSC on subsequent abdominal imaging and is currently managed as AIH/PSC overlap syndrome with UDCA, azathioprine, and budesonide. A review of literature revealed that asides from known intellectual, behavioral, and physical effects of Fragile X syndrome, there are minimal reports of other associated medical complications including liver problems or autoimmune conditions including IBD. There are however reports of autoimmunity in those with altered FMR1 (Fragile X Mental Retardation 1) gene mutations. Conclusions These 3 cases of liver disease in Fragile X highlight young age of presentation for chronic liver disease with both biliary and immune-mediated characteristics, along with progression to cirrhosis. Additional review for liver manifestations in people living with Fragile X would help understand if this association is incidental or causal. Investigations of individuals with Fragile X syndrome and liver disease Funding Agencies None

Caroli's disease with multiple cholangiogenic abscesses of left liver lobe: a clinical case

To analyze the methods of diagnostics, treatment and outcomes of Caroli disease. The medical history, diagnostic methods and treatment of a patient with a clinical diagnosis of Caroli's disease were studied on the basis of the Surgical Department of the First Republican Clinical Hospital in Izhevsk. The results of the study showed that the final clinical diagnosis was made on the basis of the following: complaints, disease development, instrumental and laboratory diagnostic data. A timely surgical intervention, combined with all diagnostic methods, identified a rare and difficult clinical diagnosis – Caroli’s disease. In the presented clinical case, after collecting anamnesis and conducting studies, a diagnosis of a rare Caroli’s disease was made and a planned operation was performed. A regular monitoring of X-ray examinations, biochemical blood tests, and a timely medical care provide a favorable prognosis – long-term remission. In case of complications, there is a high risk for the development of biliary cirrhosis.

Septic shock caused by Raoultella ornithinolytica in a patient with Caroli syndrome

Caroli disease is a rare congenital disorder characterized by saccular or fusiform dilatation of the intrahepatic bile ducts. The occurring bile duct dilation and cholestasis put patients at the risk of intraductal gallstone formation. The most common complication of the disease are recurrent inflammations of the bile ducts, manifested in the form of biliary colic and jaundice; however, the disease can lead to liver cirrhosis or portal hypertension. Due to the nonspecificity of symptoms, diagnosis can be difficult. We present a case report of a 22-year-old patient admitted to our clinic because of the presented symptoms of septic shock. During the diagnostic process, a suspicion of Caroli disease was raised in him, which was the initial cause of cholangitis and subsequent sepsis.

Caroli’s Disease vs Caroli Syndrome: Clinical and Radiological Spectrum, with disease Outcome at a Teaching Hospital in Lahore

Background: Caroli disease and Caroli syndrome are part of the clinical spectrum of ductal plate (DP) malformations, also referred to, as the fibrocystic liver diseases. This article aimed to study both these conditions, in terms of clinical features and disease outcome at a teaching hospital. Objective: To describe the clinical spectrum, laboratory and imaging findings, management course and outcome of fibrocystic liver diseases in children, at the University of Child Health Sciences, Lahore, Pakistan. Study Design: Cross-sectional Study. Settings: Department of Pediatric Gastroenterology &amp; Hepatology, University of Child Health Sciences, Lahore Pakistan. Duration: January 2014 to July 2017. Methods: The study included patients with Caroli disease and Caroli Syndrome, confirmed on the basis of characteristic findings on magnetic resonance cholangiopancreatography. SPSS v.20 was used for statistical analysis. Results: The mean age of 15 patients included in the study was 6.54 ± 4.18 years. Among them, 7/15 (46.7%) had Caroli’s disease (CD), whereas 8/15 (53.3%) had Caroli’s syndrome (CS). Male to female ratio was 4:1. CS pre-dominantly affected male children (8:0), while CD affected both genders almost equally (4:3). CD commonly presented with recurrent cholangitis (6/7, 85%), while CS as portal hypertension (7/8, 87.5%). Renal involvement was found in 5/15(33.33%) patients; mostly in CS (4/5,80%) and one (6.66%) patient progressed to end stage renal disease. One patient of CD underwent lobectomy and one died of end stage liver disease. Two patients of CS were treated with shunt surgery with partial splenectomy. Six patients are doing well after endoscopic variceal band ligation and propranolol prophylaxis. Conclusion: Caroli disease and Caroli syndrome are two sides of the same coin; it is important to differentiate the two disorders, especially from management point of view. CS is more common in our set up, leading to portal hypertension, which can be treated with sclerotherapy, endoscopic band ligation or shunt surgery. CD leads to cholangitis, which is managed with antibiotics.

Clinical and pathological features of 20 cases of congenital hepatic fibrosis

Objective: To investigate the clinical and pathological features of congenital hepatic fibrosis (CHF). Methods: The clinical and pathological findings of 20 patients diagnosed with CHF from 2017 to 2023 were retrospectively analyzed. Results: Among the 20 patients, 8 were males and 12 were females with a median age of 21.5 years. Mostly patients were admitted to the hospital with cirrhosis, portal hypertension and upper gastrointestinal bleeding. Pathological features were diffuse fibrosis in the portal area, formation of fibrous septa of varying width, segmentation of the liver parenchyma, with hyperplasia of small bile ducts. Among them, 1 case (5%) was complicated with Caroli's disease, and 1 case (5%) was HNF1α hepatocellular adenoma. IHC GS showed that was positively expressed in acinar region 3 in 75% cases. Conclusion: CHF is mainly manifested by portal hypertension and its complications. Histopathology is the gold standard for diagnosis. The possibility of CHF should be considered first in children and adolescents with portal hypertension but no history of hepatitis, and complicated kidney disease. The positive pattern of acinus-3 region of GS in IHC is helpful for the diagnosis of CHF.