Disease Information for Turcot syndrome

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;

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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];

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

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