A legacy of tinnitus: multiple head and neck paragangliomas

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

doi:10.4081/rt.2009.e29

A legacy of tinnitus: multiple head and neck paragangliomas

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

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	88-89
Number of pages	2
Journal	Rare Tumors
Volume	1
Issue number	2
DOIs	https://doi.org/10.4081/rt.2009.e29
Publication status	Published - 2009

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10.4081/rt.2009.e29Licence: CC BY

Cite this

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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.",

author = "Tan, {Tricia M. M.} and Hatfield, {Emma C. I.} and Thakker, {Rajesh V.} and Maher, {Eamonn R.} and Karim Meeran and Martin, {Niamh M.} and Turner, {Jeremy J.}",

year = "2009",

doi = "10.4081/rt.2009.e29",

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T1 - A legacy of tinnitus: multiple head and neck paragangliomas

AU - Tan, Tricia M. M.

AU - Hatfield, Emma C. I.

AU - Thakker, Rajesh V.

AU - Maher, Eamonn R.

AU - Meeran, Karim

AU - Martin, Niamh M.

AU - Turner, Jeremy J.

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.4081/rt.2009.e29

DO - 10.4081/rt.2009.e29

M3 - Article

VL - 1

SP - 88

EP - 89

JO - Rare Tumors

JF - Rare Tumors

SN - 2036-3605

IS - 2

ER -