Rare Tumors (Dec 2009)

A legacy of tinnitus: multiple head and neck paragangliomas

  • Jeremy J. Turner,
  • Niamh M. Martin,
  • Karim Meeran,
  • Eamonn R. Maher,
  • Rajesh V. Thakker,
  • Emma C.I. Hatfield,
  • Tricia M.M. Tan

DOI
https://doi.org/10.4081/rt.2009.e29
Journal volume & issue
Vol. 1, no. 2
pp. e29 – e29

Abstract

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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.

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