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Turcot's syndrome

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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.


  • J. Turcot, J. P. Després, F. St. Pierre:
    Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.
    Diseases of the Colon and Rectum, Philadelphia, 1959, 2: 465-468.

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