A legacy of tinnitus: multiple head and neck paragangliomas.

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.

• Authors: Tricia M M Tan, Emma C I Hatfield, Rajesh V Thakker, Eamonn R Maher, Karim Meeran, Niamh M Martin, Jeremy J Turner
• Journal: Rare tumors (Rare Tumors) Vol. 1 Issue 2 Pg. e29 (Dec 28 2009) ISSN: 2036-3613 [Electronic] England
• PMID: 21139908 (Publication Type: Case Reports)