A legacy of tinnitus: multiple head and neck paragangliomas

Tan, Tricia M. M., Hatfield, Emma C. I., Thakker, Rajesh V., Maher, Eamonn R., Meeran, Karim, Martin, Niamh M. and Turner, Jeremy J. (2009) A legacy of tinnitus: multiple head and neck paragangliomas. Rare Tumors, 1 (2). pp. 88-89. ISSN 2036-3605

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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.

Item Type: Article
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Norwich Clinical Trials Unit
Depositing User: Rhiannon Harvey
Date Deposited: 20 Apr 2011 12:30
Last Modified: 05 Jan 2023 13:30
URI: https://ueaeprints.uea.ac.uk/id/eprint/29725
DOI: 10.4081/rt.2009.e29

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