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

Publication

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

Journal Paper/Review - May 29, 1993

Muller A, Meyenberger Christa, Hoppeler T, Spiegel R, Kaufmann U, Ammann R

Units

Gastroenterology/Hepatology

PubMed

8390092

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.