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Results for “Caroli Disease”

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At least 19 recordsLinked to original sources
PubMed2003

[Hepatic resection in localized Caroli disease].

Caroli disease is a cystic congenital malformation of the intrahepatic biliary tract, frequently associated with lithiasis. Commonly, cystic dilatations are bilateral and infrequently they affect only one hepatic lobule or segment. We report six patients with localized Caroli disease, three in the right and three in the left hepatic lobule, that were subjected to a hepatic resection. There were no postoperative complications or mortality. After 28 months of follow up, patients are asymptomatic and with normal hepatic function and ultrasonography. The importance of diagnosing localized Caroli disease, in which hepatic resection can be curative, is emphasized.

Adult↗
PubMed2026

A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.

BACKGROUND: Caroli disease (CD) is a rare inherited disorder characterized by dilatation of intrahepatic bile ducts, and prenatal diagnosis of this disease is extremely rare. PKHD1 is the only known causative gene, yet the pathogenicity of most missense variants remains unclear. METHODS: Exome sequencing (ES) was performed on a fetus with clinical features of CD. Candidate variants were validated by Sanger sequencing in the family. The impact of the novel missense variant on pre-mRNA splicing was assessed using minigene assays, and structural modeling of the PKHD1 protein was conducted with AlphaFold 3. RESULTS: At 23 weeks of gestation, the fetus showed hepatic cysts on ultrasound and a "central dot" sign on MRI, suggesting a diagnosis of CD. The fetus also exhibited features of autosomal recessive polycystic kidney disease and oligohydramnios. ES identified and Sanger sequencing confirmed three PKHD1 variants: a paternal nonsense variant c.5323C>T; p.(Arg1775*), and two maternal missense variants c.6682G>C; p.(Glu2228Gln) and c.8012G>T; p.(Arg2671Leu). The variant c.6682G>C is novel and minigene assays demonstrated that it caused exon 40 skipping, leading to an in‑frame deletion (c.6491_6682del; p.(Gly2164_Arg2227del)). Structural modeling predicts that this deletion lies within a large β‑barrel domain and may compromise its structural stability. Conclusion We characterize a novel missense variant that causes aberrant splicing of PKHD1 in CD. This finding underscores the necessity of functional analysis for evaluating the pathogenicity of missense variants, especially those at the last nucleotide of an exon. Our study expands the mutation spectrum of PKHD1 and provides insights into genotype‑phenotype correlations.

Humans↗
PubMed2006

Diffuse cystic disease of the lung associated with simultaneous bilateral spontaneous pneumothorax: an unknown component of Caroli disease?

Simultaneous bilateral spontaneous pneumothorax is an uncommon and serious medical problem frequently related to an underlying lung disease such as parenchymal lung disease, inflammatory events or neoplasms. Recurrent pneumothorax associated with persistent air leakage may pose a therapeutic dilemma in patients with underlying lung diseases. Caroli disease (CD) is a very rare congenital disorder characterised by intrahepatic biliary cystic dilatations and frequently associated with polycystic kidney and hepatic fibrosis. To date, no relation between CD and the bilateral diffuse cystic structure of pulmonary parenchyma has been described. In this paper we present a patient with the diagnosis of CD in whom simultaneous bilateral spontaneous pneumothorax was the initial finding due to severe underlying pulmonary disease. Our patient's demographic and clinical characteristics, laboratory findings and course made us exclude the other aetiologies leading to such diffuse multi-bullous pulmonary involvement. The coincidence of recurrent pneumothorax and severe pulmonary disease has led to a big therapeutic dilemma. Open or minimally invasive surgery could be morbid or even mortal because of the nature of the parenchyma and the operative risk due to CD. Therefore, we suggest a unique conservative management including tube thoracostomy by locating the correct air spaces with the aid of high-resolution computed tomography followed by talc pleurodesis in patients with severe multi-bullous lung disease associated with potential risks due to co-morbidities.

Adult↗
PubMed2004

Caroli's disease.

Carolis disease is a rare communicating segmental or diffuse dilatation of the intrahepatic biliary tree. Cholangitis, liver cirrhosis and cholangiocarcinoma are its potential complications. A case of Carolis disease in a boy of 6 years with bilobal involvement presenting with intermittent abdominal pain, fever and hepatomegaly is reported here.

Caroli Disease↗
PubMedDate not supplied

Central dot sign in entities other than Caroli disease.

OBJECTIVE: The purpose of this study was to describe central dot sign (tiny dots with strong contrast enhancement of the portal vein within dilated hepatic bile ducts on computed tomography) in entities other than Caroli disease, especially in peribiliary cysts with or without autosomal-dominant polycystic kidney disease. MATERIALS AND METHODS: Computed tomography in 74 cases of peribiliary cysts and 134 cases of other liver diseases and states possibly showing central dot sign were retrospectively reviewed to examine the central dot sign. RESULTS: In three cases of peribiliary cysts, some part of the liver showed strongly enhanced portal radicles surrounded completely or partially by low-attenuation, enlarged peribiliary cysts, presenting "central dot sign" on contrast-enhanced computed tomography. CONCLUSION: We suggest that in addition to Caroli disease, some other entities and diseases of the liver may demonstrate central dot sign and this sign should not be considered a specific finding of Caroli disease.

Adult↗
PubMedDate not supplied

[Echographic aspects of Caroli disease].

We describe a case of congenital non-obstructive dilatation of the hepatic bile ducts (Caroli disease). The accuracy of ultrasound for the diagnosis of this syndrome is pointed out. Ultrasound scan can be carried out easily and with a remarkable imaging precision. The ultrasonographic patterns consist of both evident dilatation of the ducts and characteristic protrusions connecting the ductal walls to intraluminal portal branches (bridging). These sonographic findings confirm the etiopathogenetic hypothesis according to which Caroli disease is a result of the blockage of the bile ducts development. Moreover, we underline the efficacy of ursodeoxycholic acid in the treatment of the chronic cholestasis, always present in this disease.

Bile Ducts, Intrahepatic↗
PubMed1994

[A case of pure unilobar Caroli disease].

We describe a new case of pure Caroli disease and review of the literature. Although often sporadic, this disease is usually considered an autosomal recessive hereditary disease. It is often either associated with another congenital hepatorenal fibrocystic disease or with extrahepatic bile duct dilatation. The clinical examination and laboratory tests are of not specific if congenital hepatic fibrosis or congenital cysts of the coleduct is lacking. Certain echographic and scan images are however very specific. Complications are related to intrahepatic stone formation and to superinfections. The long-term course appears to involve increased risk of cholangiocarcinoma. Treatment of the localized form includes priority resection. In diffuse disease, treatment may be more medical with antibiotics and sometimes bile solvents. In case of failure, transplantation may be entertained.

Caroli Disease↗
PubMed1984

[Clinical considerations on a case of Caroli disease].

A case of Caroli's disease is presented. Stress is laid on the importance of transcutaneous cholangiography in the diagnosis of this morbid form, and the usefulness of both echotomography and computed tomography. The latter permits visualisation of the intra- and extrahepatic bile ducts and indicates the extent of the disease. At the same time, it permits evaluation of any alterations of other organs. Attention is also drawn to the importance of careful diagnostic employment of these means of investigation. Emphasis is equally placed on the way complications can be prevented through medical and surgical management.

Bile Ducts, Intrahepatic↗
PubMed1991

Caroli disease: computed tomographic diagnosis.

Computed tomographic (CT) scan findings in patients with cavernous ectasia of the biliary tract (Caroli disease) have been described. Our patient had the isolated form of Caroli disease characterized by saccular dilatation of intrahepatic bile ducts and no evidence of portal hypertension. CT scan of the liver showed tiny dots with strong contrast enhancement within dilated intrahepatic bile ducts (the central dot sign). This finding when correlated with sonogram indicated portal radicles surrounded by dilated intrahepatic bile ducts.

Adolescent↗
PubMed2001

[Primary cholangiocarcinoma associated with Caroli disease].

A 68 years old male presented with right hypochondrium abdominal pain and jaundice with no other clinical finding. CAT Scan and Ultrasonography showed right lobe bile duct dilatation. Magnetic Resonance Cholangiopancreatography gave an outstanding vision of a restricted right lobe bile duct dilatation associated to choledocholithiasis. A right hepatectomy and bile duct exploration were performed. The histopathological study disclosed a Caroli disease associated to a primary cholangiocarcinoma. Caroli disease is a congenital disorder characterized by intrahepatic cystic bile duct dilatation with a high risk association with cholangiocarcinoma.

Aged↗
PubMed2003

[Caroli's disease].

Caroli's disease is a rare condition characterized by congenital polycystic dilatation of the intrahepatic bile ducts. The most frequent clinical presentation of a simple type (Caroli's disease) is recurrent cholangitis, gallstone with pain, obstructive jaundice and episodes of pancreatitis in childhood and early adulthood. A more frequent type combined with congenital hepatic fibrosis is usually manifested with bleeding from esophageal varices consequential to portal hypertension. Treatment options, both conservative and surgical, are relatively limited and depend on the clinical presentation, localization of cysts in the liver, and stage of the disease. A 20-year-old man with Caroli's disease manifested with cholelithiasis and choledocholithiasis with recurrent pancreatitis at the age of 16 is presented. The diagnosis was confirmed by endoscopic retrograde cholangiopancreatography and magnetic resonance cholangiopancreatography. Treatment with ursodeoxycholic acid was initiated and after two years of follow-up the disease is stable.

Adult↗
PubMed1998

Caroli's disease.

Caroli's disease is characterized by multifocal segmental dilatation of the intrahepatic bile ducts. It is a rare congenital condition, which appears to be autosomal recessively inherited in most cases. There are two forms of disease, one associated with congenital hepatic fibrosis and a simple form occurring alone. Recent reports suggest that the simple form may be as common as that with congenital hepatic fibrosis. Other conditions, including choledochal cyst and renal cystic disease, are frequently associated. The major clinical feature is recurrent cholangitis, which may be complicated by intrahepatic calculi and hepatic abscess formation. There is good evidence that malignancy complicates Caroli's disease in approximately 7% of cases. The diagnosis rests on demonstrating that the cystic liver lesions are in continuity with the biliary tree. Modern imaging techniques allow the diagnosis to be made more easily and without invasive imaging of the biliary tree. The treatment depends on the clinical features and the location of the biliary abnormality. When the disease is localized to one hepatic lobe, hepatectomy relieves symptoms and appears to remove the risk of malignancy. In diffuse Caroli's disease, treatment options include conservative or endoscopic therapy, internal biliary bypass procedures and liver transplantation in carefully selected cases.

Caroli Disease↗
PubMed1979

Caroli disease: the diagnostic approach.

Two new pediatric examples of Caroli disease are reported; one was diagnosed by operative cholangiography and one by percutaneous transhepatic cholangiography. Although a variety of approaches may lead one to suspect the diagnosis, percutaneous transhepatic cholangiography is now the method of choice to establish the diagnosis.

Bile Ducts, Intrahepatic↗
PubMed1982

Transhepatic decompression of the biliary tree in Caroli's disease.

Caroli's disease, defined as a congenital cystic dilatation of the intrahepatic segmental bile ducts, has responded poorly to conventional methods of treatment. Medical treatment has not been useful, and the various surgical procedures that have been proposed have met with limited success. The course of this disease is characterized by recurrent episodes of cholangitis, liver failure, and hemorrhage from esophageal varices. Two cases of Caroli's disease are presented. Both failed to respond to standard forms of internal and/or external drainage. However, one of the patients has been asymptomatic for 4 years after insertion of a silicone rubber transhepatic stent, despite suffering from recurrent cholangitis and other symptoms for more than 20 years previously. We therefore propose the use of a silicone rubber transhepatic stent as a possible approach to the treatment problem posed by Caroli's disease.

Adolescent↗
PubMed2006

Caroli's disease.

Caroli's disease is a rare congenital disorder and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli's disease in an 8-years-old boy with bilobar involvement of liver, (specially affecting right superior lobe) presenting with intermittent abdominal pain, fever and hepatosplenomegaly is reported here.

Anemia, Sickle Cell↗
PubMedDate not supplied

The role of liver transplantation in patients with Caroli's disease.

Caroli's disease, characterized by segmental or diffuse dilation of the intrahepatic biliary ducts, is a rare disease which is difficult to treat. The course of the disorder is characterized by recurrent episodes of cholangitis and hospital stays, with a consequent loss of quality-of-life and productive capacity, often ending in death due to uncontrolled infection. Endoscopic drainage of the bile duct, percutaneously or surgically, is palliative, and presents bad results in the follow-up of these patients. Orthotopic liver transplantation appears to be an effective curative option for the treatment of patients with Caroli's disease associated to complications. The authors present the course of two cases of this disease, associated with congenital fibrosis of the liver worsened by repeated episodes of cholangitis, submitted to orthotopic liver transplantation.

Adult↗