TURCOT SYNDROME - A RARE EXTRAINTESTINAL MANIFESTATION OF FAMILIAL ADENOMATOUS POLYPOSIS

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 y ears later he developed multiple adenomatous polyps of the colon and m ultiple ''congenital hypertrophy of the retina'' (CHRPE), the most com mon extraintestinal manifestation of FAP, were described. Family histo ry revealed familial adenomatous polyposis with 12 family members exhi biting a FAP. The mode of inheritance of Turcot syndrome is controvert ed. Our case strengthens the hypothesis that the syndrome is a further extraintestinal (rare) manifestation of the FAP gene.