Abstract | BACKGROUND: METHOD: We report the history of a patient who showed clinical signs of the simultaneous occurrence of both Gardner's and Turcot syndromes. The syndromes are compared, and in view of the literature, a genetic explanation for the concomitant occurrence is discussed. RESULTS: Evidence obtained from the literature to consider Turcot syndrome as a phenotype of FAB is as follows: (1) The occurrence of Gardner's and Turcot syndromes in one family, but in different members; (2) The presence of congenital hypertrophic retinal pigmented epithelium (CHRPE), which correlates with the expression of polyps in FAP patients, in both syndromes; (3) Linkage of the Turcot phenotype to the adenomatous polyposis coli locus by genetic markers. Evidence obtained from this case report indicates that there is a manifestation of both syndromes in one patient together with a positive family history for FAP. CONCLUSION: This concomitant occurrence of both Gardner's and Turcot syndromes in one patient clinically supports genetic and ophthalmic investigation to consider Turcot syndrome (like Gardner's syndrome) as a phenotypic variant of FAP. Patients with FAP should be examined for the presence of Gardner's syndrome. In case a Gardner's syndrome is suspected, a computed tomography scan of the brain is recommended because of the possible existence of a simultaneous Turcot syndrome.
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Authors | R W Koot, T J Hulsebos, J J van Overbeeke |
Journal | Surgical neurology
(Surg Neurol)
Vol. 45
Issue 3
Pg. 213-8
(Mar 1996)
ISSN: 0090-3019 [Print] United States |
PMID | 8638216
(Publication Type: Journal Article)
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Topics |
- Adenomatous Polyposis Coli
(diagnosis, epidemiology, genetics)
- Animals
- Astrocytoma
(diagnosis, epidemiology, genetics)
- Brain Neoplasms
(diagnosis, epidemiology, genetics)
- Comorbidity
- Gardner Syndrome
(diagnosis, epidemiology, genetics)
- Humans
- Hyperostosis
(diagnosis, epidemiology, genetics)
- Magnetic Resonance Imaging
- Radiography
- Rats
- Skull
(diagnostic imaging)
- Syndrome
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