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

Daryl Graham | Zendy; Megan Gooch | Zendy; Zhan Ye | Zendy; Edward J. Richer | Zendy; Aftab S. Chishti | Zendy; Elizabeth Reilly | Zendy; John A. D’Orazio | Zendy

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

Author(s) -

Daryl Graham,

Megan Gooch,

Zhan Ye,

Edward J. Richer,

Aftab S. Chishti,

Elizabeth Reilly,

John A. D’Orazio

Publication year - 2014

Publication title -

case reports in genetics

Language(s) - English

Resource type - Journals

eISSN - 2090-6544

pISSN - 2090-6552

DOI - 10.1155/2014/273423

Subject(s) - sdhb , pheochromocytoma , medicine , paraganglioma , headaches , girl , pathology , endocrinology , surgery , mutation , germline mutation , gene , biology , genetics

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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