Abstract
We report herein the case of a 16-year-old boy diagnosed as having turcot syndrome, otherwise known as glioma-polyposis syndrome. The patient was transferred from the Department of Neurosurgery where he was undergoing investigation of a brain tumor, to the Department of Medicine for investigation of gastrointestinal symptoms. The patient was diagnosed as having Turcot syndrome, and was then transferred to the Department of Surgery for treatment of an obstruction in the sigmoid colon and small intestinal invagination. A subtotal colectomy with side-to-end ileoproctostomy and release of the invaginations was carried out. Multiple polyps were found in the colon, two of which, including a large polyp that obstructed the colonic lumen, were confirmed histologically to be adenocarcinoma. The remaining polyps were adenomas. A biopsy of the brain tumor confirmed a diagnosis of astrocytoma (WHO grade II). This case report describes the characteristic features of Turcot syndrome presented by this patient.
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Bussey HJR (1975) Familial polyposis coli. Johns Hopkins University Press, Baltimore, pp 1–100
Turcot J, Despres JP, St Pierre (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon. Report of two cases. Dis Colon Rectum 2:455–468
Schneider T, Victor S (1993) The Turcot syndrome (glioma polyposis) and its neurological significance. Case report. Neurosurg Rev 16:327–330
Crail HW (1949) Multiple primary malignancies arising in the rectum, brain and thyroid. Report of a case. US Nav Med Bull 49:1213–1218
Schroder S, Moehrs D, Weltzien JV, Winkler R, Otto HF (1983) The Turcot syndrome. Report of an additional case and review of the literature. Dis Colon Rectum 26:533–538
Jamjoom ZAB, Sadiq S, Mofti AB, Al-Mofleh I, Ajarim D (1989) Turcot syndrome. Report of a case and review of the literature. Int Surg 74:45–50
Jarvis L, Bathurst N, Mohan d, Beckly D (1988) Turcot's syndrome. A review. Dis Colon Rectum 31:907–914
Itoh H, Ohsato K (1985) Turcot syndrome and its characteristic colonic manifestations. Dis Colon Rectum 28:399–402
Lewis JH, Ginsberg AI, Toomey KE (1983) Turcot's syndrome. Evidence for autosomal dominant inheritance. Cancer 51:524–528
Costa OL, Silva DM, Colnago FA, Vieira MS, Musso C (1987) Turcot syndrome. Autosomal dominant or recessive transmission? Dis Colon Rectum 30:391–394
Jagelman DG (1987) Extracolonic manifestation of familial polyposis coli. Sem Surg Oncol 3:88–91
Tops CMJ, Vasen HFA, van Berge Henegouwen G, Simoons PP, van de Klift HM, van Leeuwen SJ, Breukel C, Fodde R, den Hartog Jager CA, Nagengast FM, Griffioen G, Khan PM (1992) Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. Am J Med Genet 43:888–893
Tops CMJ, van de Klift HM, van der Luijt RB, Griffioen G, Taal BG, Vasen HFA, Khan PM (1993) Non-allelic heterogeneity of familial adenomatous polyposis. Am J Med Genet 47:563–567
Kropilak M, Jagelman DG, Fazio VW, Lavery IL, McGannon E (1989) Brain tumors in familial adenomatous polyposis. Dis Colon Rectum 32:778–782
Mori T, Nagase H, Horii A, Miyoshi Y, Shimano T, Nakatsuru S, Aoki T, Arakawa H, Yanagisawa A, Ushio Y, Takano S, Ogawa M, Nakamura M, Shibuya M, Nishikawa R, Matsutani M, Hayashi Y, Takahashi H, Ikuta F, Nishihira T, Mori S, Nakamura Y (1994) Germline and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Genes Chrom Cancer 9:168–172
Miyaki M, Nishio J, Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Nagato M, Chong JM, Koike M, Terada T, Kawahara Y, Fukutome A, Tomiyama J, Chuganji Y, Momoi M, Utsunomiya J (1997) Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene 15:2877–2881
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Shibata, C., Sasaki, I., Naito, H. et al. Turcot syndrome with colonic obstruction and small intestinal invagination: Report of a case. Surg Today 29, 785–788 (1999). https://doi.org/10.1007/BF02482328
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DOI: https://doi.org/10.1007/BF02482328