Congenital hepaticMutated in patients with Caroli syndromeCases of Caroli syndromeCholangitisSimple Caroli diseaseLeft lobe of the liverCaroli'sARPKDExtrahepaticPolycysticDilatationPortal hypertensionAutosomal recessiveRenal dysplasiaRare congenital disorderDiffuseEndoscopicDisease or syndromeCystic renalPolydactylyRecurrentDisordersBardet-Biedl SyIntrahepaticBiliary AtresiaSegmentalCholangiocarcinomaSporadicDiseasesPyogenicDuctsBileHepaticCommonlyMutationsFibrosisManifestationsOccursDiagnosisPatientsAcneGenesFindings
Congenital hepatic9
- The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. (raredis.org)
- This form is less common than Caroli syndrome, in which malformations of small bile ducts and congenital hepatic fibrosis are also present. (medscape.com)
- [ 1 ] As with congenital hepatic fibrosis , Caroli syndrome is often associated with autosomal recessive polycystic kidney disease (ARPKD) . (medscape.com)
- therefore, Caroli syndrome is thought to belong in the same spectrum of disease as congenital hepatic fibrosis and ARPKD. (medscape.com)
- Caroli syndrome (ectasia of the large and small bile ducts with congenital hepatic fibrosis) is more common than Caroli disease (ectasia of only the large bile ducts). (medscape.com)
- Patients with Caroli syndrome or Caroli disease may have cholangitis and may also have complications of portal hypertension as is observed in congenital hepatic fibrosis. (medscape.com)
- After reviewing 46 cases of Caroli disease before 1990, 21.7% of the cases were the result of an intrahepatic cyst or nonobstructive biliary tree dilation, 34.7% were linked with congenital hepatic fibrosis, 13% were isolated choledochal cystic dilation, and the remaining 24.6% had a combination of all three. (wikipedia.org)
- Abstract We describe a case of Caroli syndrome (Caroli's disease and congenital hepatic fibrosis) in a 10-year-old boy with bilobar involvement and numerous renal cysts. (zib.de)
- The Caroli syndrome is characterized by both type V choledochal cysts and congenital hepatic fibrosis. (healthcaretip.com)
Mutated in patients with Caroli syndrome1
- PKHD1, the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. (wikipedia.org)
Cases of Caroli syndrome2
- The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease. (wikipedia.org)
- The number of cases of Caroli syndrome caused by PKHD1 mutations is not known. (medscape.com)
Cholangitis2
- Caroli disease is associated with recurrent bacterial cholangitis and stone formation . (medscape.com)
- Patients with Caroli disease or Caroli syndrome may have recurrent episodes of cholangitis and are also at risk for associated bacteremia and sepsis. (medscape.com)
Simple Caroli disease1
- There are two patterns of Caroli disease: focal or simple Caroli disease consists of abnormally widened bile ducts affecting an isolated portion of liver. (wikipedia.org)
Left lobe of the liver1
- [ 1 ] . Because reports have described cases limited to the left lobe of the liver, some have described Caroli disease as either localized or diffuse. (medscape.com)
Caroli's3
- type II, or complex Caroli disease, is also known as Caroli's syndrome. (medscape.com)
- Polycystic liver disease, pancreatitis , irritable bowel syndrome and a congenital defect called Caroli's syndrome may also increase a person's bile duct cancer risks. (targetwoman.com)
- There are rare congenital diseases that increase the risk of bile duct cancer, including Lynch II syndrome (hereditary nonpolyposis colorectal cancer associated with biliary tree and other cancers) and Caroli's syndrome (portal hypertension, hepatic fibrosis, and biliary tree cysts). (brainandnervecenter.com)
ARPKD5
- Caroli syndrome is associated with ARPKD, and patients may have various degrees of renal cysts, interstitial fibrosis, and renal failure. (medscape.com)
- Family history may include kidney and liver disease due to the link between Caroli disease and ARPKD. (wikipedia.org)
- Because Caroli syndrome is associated with autosomal recessive polycystic kidney disease (ARPKD) and is inherited in an autosomal recessive manner, the patient may have a family history of kidney or liver disease. (medscape.com)
- Mutations in PKHD1 on chromosome 6p21, which is the gene linked to ARPKD, have been identified in patients with Caroli syndrome. (medscape.com)
- Presented "CAROLI SYNDROME WITH ARPKD" & Won 2nd price in Nanavati MRI Conference held on 2nd - 6th April 2009. (bankersvascular.com)
Extrahepatic2
- This extrahepatic manifestation of Caroli disease is a component of Caroli syndrome. (patientcareonline.com)
- The presence of diffuse fusiform dilatation of the extrahepatic duct of 3 cm or less coupled with the characteristic intrahepatic ductal findings may be useful in differentiating patients with Caroli disease from those with a choledochal cyst and biliary dilatation. (patientcareonline.com)
Polycystic4
- Caroli disease is also associated with liver failure and polycystic kidney disease. (wikipedia.org)
- These lesions encompass simple hepatic cysts, mucinous cystic neoplasms of the liver, polycystic liver disease, Caroli disease, Caroli syndrome, biliary hamartomas and peribiliary cysts. (rare-liver.eu)
- Type V or Caroli disease, refers to a congenital polycystic dilatation only affecting intra hepatic biliary ducts. (biomedcentral.com)
- Polycystic Ovary Syndrome -- 22. (nshealth.ca)
Dilatation7
- Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. (raredis.org)
- There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. (raredis.org)
- Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts , which was first described in 1958 by the French physician Jacques Caroli. (medscape.com)
- The term Caroli disease is applied if the disease is limited to ectasia or segmental dilatation of the larger intrahepatic ducts. (medscape.com)
- In Caroli disease, abnormalities of the bile duct occur at the level of the large intrahepatic ducts (ie, left and right hepatic ducts, segmental ducts), resulting in dilatation and ectasia. (medscape.com)
- Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree) is a rare inherited disorder characterized by cystic dilatation (or ectasia) of the bile ducts within the liver. (wikipedia.org)
- Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives. (wikipedia.org)
Portal hypertension1
- In Caroli syndrome, portal hypertension may result in hematemesis or melena secondary to bleeding varices. (medscape.com)
Autosomal recessive3
- Caroli disease is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. (medscape.com)
- Caroli syndrome is inherited in an autosomal recessive manner. (medscape.com)
- Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. (nih.gov)
Renal dysplasia1
- Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. (medscape.com)
Rare congenital disorder1
- The French physician J. Caroli first described this rare congenital disorder in 1958. (patientcareonline.com)
Diffuse1
- In diffuse cases of Caroli disease, treatment options include conservative or endoscopic therapy, internal biliary bypass procedures, and liver transplantation in carefully selected cases. (wikipedia.org)
Endoscopic1
- Endoscopic retrograde cholangiopancreatography (ERCP, shown below) can be performed in patients with Caroli disease and can aid in diagnosis. (medscape.com)
Disease or syndrome1
- Symptoms of Caroli disease or syndrome are more common in female patients than in male patients. (medscape.com)
Cystic renal1
- Type V is considered as a distinct entity as, unlike the other types, is usually associated with both cystic renal disease and liver fibrosis (Caroli syndrome). (biomedcentral.com)
Polydactyly2
- The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. (raredis.org)
- SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). (beds.ac.uk)
Recurrent2
- During the past decade, the term "autoinflammatory syndromes" was introduced by Kastner to include all those disorders that did not fit into classical groups of immune-mediated diseases, and characterized by recurrent fever associated with rheumatologic symptoms involving joints, skin, muscles, and eyes. (biomedcentral.com)
- The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)
Disorders3
- Caroli disease and Caroli syndrome are rare congenital disorders of the intrahepatic bile ducts. (medscape.com)
- Beside the well-known association with chronic bowel diseases and neoplasms, a potentially relevant new aspect is an association with endocrine diseases, in particular the metabolic syndrome, thyroid dysfunctions and renal disorders. (biomedcentral.com)
- MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). (nih.gov)
Bardet-Biedl Sy3
- Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
- This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publications. (uchicago.edu)
- Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles. (uchicago.edu)
Intrahepatic1
- Caroli disease had been diagnosed in a 29-year-old man 5 years earlier based on MRI findings of multiple sacculated, dilated intrahepatic ducts with intrahepatic calculi and calculi in the common bile duct. (patientcareonline.com)
Biliary Atresia1
- The discovery of metabolic liver diseases, bile acid synthesis defects, cryptogenic neonatal hepatitis syndromes, and the development of the Kasai portoenterostomy procedure for the treatment of biliary atresia, a condition up until then considered untreatable, were all factors that contributed to the foundation of the subspecialty of pediatric hepatology in the 1970s. (abdominalkey.com)
Segmental1
- Drawing shows the main right hepatic duct and the multiple segmental branch dilatations related to Caroli disease. (medscape.com)
Cholangiocarcinoma2
- Both Caroli disease and Caroli syndrome are associated with a risk of cholangiocarcinoma at a rate of 100 times that of the general population. (medscape.com)
- People with Caroli disease are 100 times more at risk for cholangiocarcinoma than the general population. (wikipedia.org)
Sporadic1
- Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. (beds.ac.uk)
Diseases4
- Caroli syndrome belongs to a subcategory of diseases thought to originate from DP malformation. (medscape.com)
- After recognizing symptoms of related diseases, Caroli disease can be diagnosed. (wikipedia.org)
- Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. (biomedcentral.com)
- In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis and treatment of these diseases. (biomedcentral.com)
Pyogenic2
- Some case-reports about an autosomal dominant, auto-inflammatory disease, known as PAPA-syndrome (pyogenic arthritis, PG and acne) showed an association to mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. (biomedcentral.com)
- Thanks to the advanced techniques in genetics, to date many genes have been recognized in the pathogenesis of periodic syndromes like familial Mediterranean fever (FMF), hyper IgD syndrome (HIDS), tumor necrosis factor receptor associated autoinflammatory syndrome (TRAPS), cryopyrin associated periodic syndromes (CAPS), Blau syndrome and pyogenic sterile arthritis pyoderma gangrenosum and acne syndrome (PAPA). (biomedcentral.com)
Ducts1
- However, cholangiography is the best, and final, approach to show the enlarged bile ducts as a result of Caroli disease. (wikipedia.org)
Bile1
- Patients with Caroli disease or Caroli syndrome may have a history of intermittent abdominal pain, which reflects episodes of bile stasis or the passage of bile stones. (medscape.com)
Hepatic1
- Hepatic ultrasonogram of a neonate with Caroli disease. (medscape.com)
Commonly2
- therefore, it is commonly performed early in the workup of patients with Caroli disease. (medscape.com)
- Caroli disease is commonly diagnosed after this "central dot sign" is detected on a CT scan or ultrasound. (wikipedia.org)
Mutations1
- Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)
Fibrosis1
- In Caroli syndrome, DP malformation is present at the level of the smallest portal tracts and is associated with varying degrees of portal fibrosis. (medscape.com)
Manifestations3
- Basal Cell Carcinoma (BCC) and OKC are the most common incident manifestations of the syndrome 3 . (bvsalud.org)
- The purpose of this paper is to describe clinical and histopathological aspects of KCOTs associated with NBCCS and report other manifestations associated with the syndrome. (bvsalud.org)
- Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
Occurs1
- Xeroderma-pigmentiosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. (the-medical-dictionary.com)
Diagnosis3
- Imaging studies play a major role in the diagnosis of Caroli disease. (medscape.com)
- Computed tomography (CT) scanning is excellent for screening patients, and magnetic resonance imaging (MRI) can aid in the diagnosis of Caroli disease. (medscape.com)
- C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
Patients5
- In a 10-year period between 1995 and 2005, only 10 patients were surgically treated for Caroli disease, with an average patient age of 45.8 years. (wikipedia.org)
- To assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS) in a single Brazilian institution. (bvsalud.org)
- Moreover 25.5% of all patients had a diabetes mellitus with some aspects of potential association with the metabolic syndrome. (biomedcentral.com)
- Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. (biomedcentral.com)
- The authors also proposed a flow chart based on the clinical profile of patients with suspected autoinflammatory syndromes with the purpose to identify patients with effective need of a genetic analysis. (biomedcentral.com)
Acne2
- It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
- Genetic Syndromes Mimicking Acne Vulgaris -- 25. (nshealth.ca)
Genes2
- Cockayne's syndrome is linked to abnormality in two genes that code for the generation of proteins involved in nucleotide excision repair. (the-medical-dictionary.com)
- Polymorphisms in genes of respiratory control and sudden infant death syndrome. (cdc.gov)
Findings1
- Joshi P, Lele V, Gandhi R . Fluorodeoxyglucose positron emission tomography-computed tomography scan and nuclear magnetic resonance findings in a case of Stewart-Treves syndrome. (bankersvascular.com)