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

Publikation

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

Wissenschaftlicher Artikel/Review - 29.05.1993

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

Bereiche

Gastroenterologie | Hepatologie

PubMed

8390092

Zitation

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.

Art

Wissenschaftlicher Artikel/Review (Deutsch)

Zeitschrift

Schweizerische medizinische Wochenschrift 1993; 123

Veröffentlichungsdatum

29.05.1993

ISSN (Druck)

0036-7672

Seiten

1125-7

Kurzbeschreibung/Zielsetzung

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.