alexa Abstract | Cerebellopontine Angle Tumor in a Patient with a Maternally Inherited SDHD Gene Mutation

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Research Article Open Access

Abstract

Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally. We present the first reported case of a patient with a CPA tumor and a maternally inherited SDHD gene mutation.

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Author(s): Larry D Hartzell Kent D McKelvey Rudy L Van Hemert John Dornhoffer

Keywords

acoustic neuroma, cerebellopontine angle (CPA) tumor, paraganglioma, SDHD gene, sensorineural hearing loss

 
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