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.
McKennan
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Department of Otology/Neurotology, Sacramento Ear, Nose and Throat Surgical and Medical Group, Calif. 95816.
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D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009464:Neuroma, Acoustic / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery