Disease Information for Turcot syndrome

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Clinical Manifestations
Signs & Symptoms
Blood in stool
Diarrhea
Diarrhea and Weight Loss
Diarrhea, chronic
Diarrhea, recurrent
Hematochezia/Blood per Rectum
CNS symptoms/signs
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Family History
Family history/Cancer
Family history/Colon carcinoma
Family history/Colon polyp
Family history/Colon polyposis
Family History/Brain Tumor
Diagnostic Test Results
Other Tests & Procedures
Colonoscopy/Multiple polyps
Colonoscopy/Polyp
X-RAY With contrast
BE/Colon polyp (Xray)
BE/Multiple colon polyps (Xray)
Associated Diseases & Rule outs
Rule Outs
Gardner syndrome
Associated Disease & Complications
Adenocarcinoma, colon
Adenomatous polyp/colon
Astrocytoma
Brain tumor
Brain tumor , malignant (astrocytoma)
Cancer in Children
Cancer/malignancy
Colon polyp
Gardner syndrome
Glioblastoma Multiforme
Glioblastoma/CNS
Intestinal polyp (small bowel)
Medulloblastoma
Multiple colon polyps
Optic glioma
Turcot syndrome
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 3p21.3
Pathophysiology/Gene locus 5q21-q22
Pathophysiology/Gene locus 7p22
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Pre-cancerous condition
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial/tumor syndrome (ex)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Polyps (ex)
PROCESS/Familial polyposis/colon (ex)
Synonyms
Synonym
Turcot syndrome, Synonym/Turcot/Gardner variant syndrome
Definition

Turcot"s syndrome;Also known as: Turcot-Després syndrome;

Turcot-Després-St Pierre syndrome; Colonic polyposis-malignant central nervous system tumor syndrome, glioma-polyposis syndrome, intestinal polyposis-glioma syndrome;

A rare, hereditary syndrome, characterized by brain tumors (glioblastoma, astrocytoma, or spongioblastoma) associated with colonic adenomatous polyposis; The polypi vary in number from hundreds to thousands and in size; occasionally they are found in the stomach and small intestine; In the fourth and fifth decades of life they are liable to become malignant; Other festures include Caf-au-lait spots, cutaneous port wine stain, diarrhoea, as well as focal nodular hyperplasia; Inheritance is autosomal recessive; The symptoms are most often in the second decade of life; Turcots syndrome has been divided in three groups depending on the number and character of the colonic polyps; Turcot, Després and St Pierre first described the syndrome in a brother and sister from a consanguinous marriage;

-----------------[whonamedit website 2005]-----------------

Turcot Syndrome; Brain tumor-polyposis syndrome;

Glioma-polyposis syndrome; Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system; Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss; Affected individuals may also experience neurological symptoms, depending upon the type, size and location of the associated brain tumor; Some researchers believe that Turcot syndrome is a variant of familial adenomatous polyposis; Others believe that it is a separate disorder; --------------------------[NORD 2005]--------------

TURCOT SYNDROME; Clinical Synopsis: Autosomal dominant;

ABDOMEN : Gastrointestinal and Adenomatous colonic polyps

Sebaceous cyst; Cafe au lait spots ; Hyperpigmented spots;

NEOPLASIA : Basal cell carcinoma; Ependymoma; Medulloblastoma; Glioblastoma; Papillary thyroid carcinoma ;

Leukemia; MISC: Onset of polyps in second decade; Onset of brain tumor in childhood; Families with medulloblastomas as feature often secondary to mutations in APC [adenomatous polyposis and colorectal carcinoma]; Families with glioblastomas as feature are secondary to HNPCC mutations [Non-Polyposis colorectal carcinoma];

----------------[OMIM website 2005]------------------

Background: Turcot"s syndrome is characterized clinically by the concurrence of a primary brain tumor and multiple colorectal adenomas;

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External Links Related to Turcot syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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