A legacy of tinnitus: multiple head and neck paragangliomas.

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Title: A legacy of tinnitus: multiple head and neck paragangliomas.
Authors: Tan, TM
Hatfield, EC
Thakker, RV
Maher, ER
Meeran, K
Martin, NM
Turner, JJ
Item Type: Journal Article
Abstract: We describe the case of a patient who presented with a right-sided glomus jugulare tumor and bilateral glomus vagale tumors. These proved to be nonmalignant paragangliomas on histopathological analysis. Genetic analysis revealed a germline heterozygous missense mutation (Pro81Leu) in the succinate dehydrogenase subunit D (SDHD) gene. We discuss the clinical presentations of the familial paraganglioma syndrome type 1, which is caused by mutations in SDHD, and the implications for the clinical diagnosis and care of such patients.
Issue Date: 9-Jul-2009
Date of Acceptance: 10-Aug-2009
URI: http://hdl.handle.net/10044/1/21891
DOI: http://dx.doi.org/10.4081/rt.2009.e29
ISSN: 2036-3605
Publisher: PAGEpress
Start Page: 88
End Page: 89
Journal / Book Title: Rare Tumors
Volume: 1
Issue: 2
Copyright Statement: © Copyright T.M.M. Tan et al., 2009. This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0).
Appears in Collections:Department of Medicine
Faculty of Medicine



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