1. Background

• Familial Polyposis Disorder is classified into 3 disorders each associated with potentially-malignant adenomatous polyps:
  1. Familial Polyposis Coli (FPC)
  2. Gardner's Syndrome
  3. Turcot's Syndrome (TS)
• the colonic manifestation (adenomatous polyposis) is common to all three disorders but the extracolonic manifestations differ
• first described by Turcot et al. in 1959
• the main difference between FPC and Turcot's Syndrome is the greater degree of extracolonic manifestations (CNS tumors) in the latter
• these central nervous system (CNS) tumors usually present in teenagers and follow the appearance of the adenomatous polyps and are usually the cause of death in these patients before the age of 20
• see the file on "Familial Polyposis Coli" for notes on the genetic defect and the malignancy potential of the adenomatous polyps

1. Gastrointestinal Manifestations

2. Extracolonic Manifestations

1. Colonoscopy

• colon carpetted by 100's of small, sessile polyps
• ratio of polyps > 3 cm to all polyps is > 1% in TS but only 0.2% in FPC
• the polyps in TS are larger but fewer in number than in FPC
• biopsy - adenomas without inflammatory or cystic changes

2. Imaging Studies

• barium enema with air contrast
• CT and/or MRI for CNS tumors

1. Surveillance

• colonoscopy every 2 years after age 8-9 years
• genetic counselling

2. Surgery

• as for other adenomatous polyposis syndromes
• for CNS tumors