Familial adenomatous polyposis and benign intracranial tumors: A new variant of Gardner's syndrome

Introduction: Familial adenomatous polyposis (FAP) is associated with malig nant tumors of the central nervous system, predominantly medulloblastomas a nd glioblastoma multiforme (Turcot's syndrome) and with craniofacial osteom as (Gardner's syndrome). This report details the occurrence of benign, intr acranial 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 grandnephew s 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 childre n and her relatives with Gardner's syndrome were examined and underwent com puted tomography or magnetic resonance imaging. Results: A 39-year-old woma n 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 whi ch medulloblastoma predominate, are associated with a mutation of the adeno matous polyposis coli gene. The demonstration that patients with Gardner's syndrome can also have benign, nonneuroglial, intracranial tumors adds to t he previously known extracolonic lesions associated with FAP. The molecular characterization of our patients should reveal if benign intracranial tumo rs represent a pleiotropic manifestation of the adenomatous polyposis coli gene mutation or if other genes are implicated.