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Neurofibromatosis type 2: Report of a family and review of current evaluation and treatment

Significant advances during the past decade have greatly improved our understanding of neurofibromatosis type 2, a genetic disease which results in bilateral acoustic neuromas. The emergence of gadolinium-enhanced magnetic resonance imaging has allowed early detection of minute intracanalicular eighth-nerve tumors, less than 1 cm in diameter. Recombinant DNA studies have clarified the genetics that underlie neurofibromatosis type 2 and separate it from a variety of related conditions, such as von Recklinghausen's neurofibromatosis. Early diagnosis and surgical removal of these tumors may offer the only hope of preserving hearing and facial nerve function. A report of the evaluation and treatment of a family with multiple affected individuals will exemplify these conclusions.