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Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation
Larry D Hartzell1, Kent D McKelvey, Rudy L Van Hemert
1Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA.
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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