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Familial Adenomatous Polyposis and Benign Intracranial Tumors: A New Variant of Gardner's Syndrome

Published online by Cambridge University Press:  02 December 2014

Richard Leblanc
Richard Leblanc*
Affiliation:
Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada
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Abstract

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Introduction:

Familial adenomatous polyposis (FAP) is associated with malignant tumors of the central nervous system, predominantly medulloblastomas and glioblastoma multiforme (Turcot's syndrome) and with craniofacial osteomas (Gardner's syndrome). This report details the occurrence of benign, intracranial tumors in two related individuals with Gardner's syndrome, an asso ciation not previously described.

Patients and Methods:

A 57-year-old woman (the propositus), her sister, two of her nieces and one of her grandnephews were previously diagnosed with Gardner's syndrome. The propositus came to neurosurgical attention because of vertigo associated with what proved to be an epidermoid cyst of the cerebellopontine angle. Her unaffected children and her relatives with Gardner's syndrome were examined and underwent computed tomography or magnetic resonance imaging.

Results:

A 39-year-old woman with Gardner's syndrome, the niece of the propositus, was found to harbor an asymptomatic left frontal meningioma.

Discussion:

Familial adenomatous polyposis, Gardner's syndrome, and that variant of Turcot's syndrome in which medulloblastoma predominate, are associated with a mutation of the adenomatous polyposis coli gene. The demonstration that patients with Gardner's syndrome can also have benign, nonneuroglial, intracranial tumors adds to the previously known extracolonic lesions associated with FAP. The molecular characterization of our patients should reveal if benign intracranial tumors represent a pleiotropic manifestation of the adenomatous polyposis coli gene mutation or if other genes are implicated.

Résumé:

RÉSUMÉ:Introduction:

La polypose adénomateuse familiale est associée à des tumeurs malignes du système nerveux central, surtout des médulloblastomes et des glioblastomes multiformes (syndrome de Turcot), et à des ostéomes crâniofaciaux (syndrome de Gardner). Cet article rapporte une association qui n'a pas été décrite antérieurement: la présence de tumeurs intracrâniennes bénignes chez deux individus apparentés présentant un syndrome de Gardner.

Patients et Méthodes:

Un diagnostic de syndrome de Gardner avait été posé antérieurement chez une femme âgée de 57 ans (le cas index), sa soeur, deux de ses nièces et un de ses petits-neveux. Le cas index a été référé en neurochirurgie à cause de vertiges associés à ce qui s'est avéré être un kyste épidermoïde de l'angle ponto-cérébelleux. Ses enfants non atteints et les membres de sa parenté atteints du syndrome de Gardner ont été examinés et ont subi une tomodensitométrie ou une résonance magnétique.

Résultats:

On a découvert un méningiome frontal gauche asymptomatique chez une nièce du cas index, une femme âgée de 39 ans atteinte du syndrome de Gardner.

Discussion:

La polypose adénomateuse familiale, le syndrome de Gardner et la variante du syndrome de Turcot où le médulloblastome prédomine sont associés à une mutation du gène de la polypose adénomateuse colique. La démonstration que les patients porteurs du syndrome de Gardner peuvent également avoir des tumeurs bénignes intracrâniennes non neurogliales s'a-joute à ce qui est déjà connu sur les lésions extracoliques associées à la polypose adénomateuse familiale. La caractérisation moléculaire de nos patients devrait nous indiquer si les tumeurs intracrâniennes bénignes représentent une manifestation pleiotrope de la mutation du gène de l'APC ou si d'autres gènes sont en cause.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 27 , Issue 4 , November 2000 , pp. 341 - 346
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2000

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