A legacy of tinnitus: multiple head and neck paragangliomas | Zendy

Tricia Tan | Zendy; Emma Hatfield | Zendy; Rajesh V. Thakker | Zendy; Eamonn R. Maher | Zendy; Karim Meeran | Zendy; Niamh Martin | Zendy; Jeremy Turner | Zendy

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A legacy of tinnitus: multiple head and neck paragangliomas

Author(s) -

Tricia Tan,

Emma Hatfield,

Rajesh V. Thakker,

Eamonn R. Maher,

Karim Meeran,

Niamh Martin,

Jeremy Turner

Publication year - 2009

Publication title -

rare tumors

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.285

H-Index - 15

eISSN - 2036-3613

pISSN - 2036-3605

DOI - 10.4081/rt.2009.e29

Subject(s) - sdhd , medicine , paraganglioma , missense mutation , germline mutation , sdhb , tinnitus , glomus tumor , head and neck , pathology , mutation , genetics , surgery , gene , audiology , biology

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

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