A legacy of tinnitus: multiple head and neck paragangliomas

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 d...

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Detalles Bibliográficos
Autores principales: Tan, Tricia M.M, Hatfield, Emma C.I, Thakker, Rajesh V, Maher, Eamonn R, Meeran, Karim, Martin, Niamh M, Turner, Jeremy J
Formato: Texto
Lenguaje:English
Publicado: PAGEPress Publications 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994464/
https://www.ncbi.nlm.nih.gov/pubmed/21139908
http://dx.doi.org/10.4081/rt.2009.e29
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author Tan, Tricia M.M
Hatfield, Emma C.I
Thakker, Rajesh V
Maher, Eamonn R
Meeran, Karim
Martin, Niamh M
Turner, Jeremy J
author_facet Tan, Tricia M.M
Hatfield, Emma C.I
Thakker, Rajesh V
Maher, Eamonn R
Meeran, Karim
Martin, Niamh M
Turner, Jeremy J
author_sort Tan, Tricia M.M
collection PubMed
description 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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spelling pubmed-29944642010-12-07 A legacy of tinnitus: multiple head and neck paragangliomas Tan, Tricia M.M Hatfield, Emma C.I Thakker, Rajesh V Maher, Eamonn R Meeran, Karim Martin, Niamh M Turner, Jeremy J Rare Tumors Case Report 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. PAGEPress Publications 2009-12-28 /pmc/articles/PMC2994464/ /pubmed/21139908 http://dx.doi.org/10.4081/rt.2009.e29 Text en ©Copyright T.M.M. Tan et al., 2009 This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0).
spellingShingle Case Report
Tan, Tricia M.M
Hatfield, Emma C.I
Thakker, Rajesh V
Maher, Eamonn R
Meeran, Karim
Martin, Niamh M
Turner, Jeremy J
A legacy of tinnitus: multiple head and neck paragangliomas
title A legacy of tinnitus: multiple head and neck paragangliomas
title_full A legacy of tinnitus: multiple head and neck paragangliomas
title_fullStr A legacy of tinnitus: multiple head and neck paragangliomas
title_full_unstemmed A legacy of tinnitus: multiple head and neck paragangliomas
title_short A legacy of tinnitus: multiple head and neck paragangliomas
title_sort legacy of tinnitus: multiple head and neck paragangliomas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994464/
https://www.ncbi.nlm.nih.gov/pubmed/21139908
http://dx.doi.org/10.4081/rt.2009.e29
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