title: 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.affiliation: Department of Investigative Medicine, Division of Investigative Science, Imperial Healthcare NHS Trust, London, UK;
authors.forename: Tricia M M
authors.initials: TM
authors.lastname: Tan
authors.forename: Emma C I
authors.initials: EC
authors.lastname: Hatfield
authors.forename: Rajesh V
authors.initials: RV
authors.lastname: Thakker
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Karim
authors.initials: K
authors.lastname: Meeran
authors.forename: Niamh M
authors.initials: NM
authors.lastname: Martin
authors.forename: Jeremy J
authors.initials: JJ
authors.lastname: Turner