Publication

[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]

Journal Paper/Review - May 29, 1993

Units
PubMed

Citation
Muller A, Meyenberger C, Hoppeler T, Spiegel R, Kaufmann U, Ammann R. [Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. Schweizerische medizinische Wochenschrift 1993; 123:1125-7.
Type
Journal Paper/Review (Deutsch)
Journal
Schweizerische medizinische Wochenschrift 1993; 123
Publication Date
May 29, 1993
Issn Print
0036-7672
Pages
1125-7
Brief description/objective

The case of a 15-year-old male with Turcot syndrome is presented. When the patient was aged 10 years a medulloblastoma was diagnosed. Five years later he developed multiple adenomatous polyps of the colon and multiple "congenital hypertrophy of the retina" (CHRPE), the most common extraintestinal manifestation of FAP, were described. Family history revealed familial adenomatous polyposis with 12 family members exhibiting a FAP. The mode of inheritance of Turcot syndrome is controverted. Our case strengthens the hypothesis that the syndrome is a further extraintestinal (rare) manifestation of the FAP gene.