Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an ab...

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Detalles Bibliográficos
Autores principales: Graham, Daryl, Gooch, Megan, Ye, Zhan, Richer, Edward, Chishti, Aftab, Reilly, Elizabeth, D'Orazio, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156988/
https://www.ncbi.nlm.nih.gov/pubmed/25215250
http://dx.doi.org/10.1155/2014/273423
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author Graham, Daryl
Gooch, Megan
Ye, Zhan
Richer, Edward
Chishti, Aftab
Reilly, Elizabeth
D'Orazio, John
author_facet Graham, Daryl
Gooch, Megan
Ye, Zhan
Richer, Edward
Chishti, Aftab
Reilly, Elizabeth
D'Orazio, John
author_sort Graham, Daryl
collection PubMed
description A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency.
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spelling pubmed-41569882014-09-11 Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Graham, Daryl Gooch, Megan Ye, Zhan Richer, Edward Chishti, Aftab Reilly, Elizabeth D'Orazio, John Case Rep Genet Case Report A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency. Hindawi Publishing Corporation 2014 2014-08-19 /pmc/articles/PMC4156988/ /pubmed/25215250 http://dx.doi.org/10.1155/2014/273423 Text en Copyright © 2014 Daryl Graham et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Graham, Daryl
Gooch, Megan
Ye, Zhan
Richer, Edward
Chishti, Aftab
Reilly, Elizabeth
D'Orazio, John
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title_full Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title_fullStr Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title_full_unstemmed Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title_short Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
title_sort pheochromocytoma in a twelve-year-old girl with sdhb-related hereditary paraganglioma-pheochromocytoma syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156988/
https://www.ncbi.nlm.nih.gov/pubmed/25215250
http://dx.doi.org/10.1155/2014/273423
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