Abstract
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.
Document Type
Article
Publication Date
8-19-2014
Digital Object Identifier (DOI)
http://dx.doi.org/10.1155/2014/273423
Funding Information
Sources of support are The University of Kentucky College of Medicine and the Markey Cancer Center.
Repository Citation
Graham, Daryl; Gooch, Megan; Ye, Zhan; Richer, Edward; Chishti, Aftab S.; Reilly, Elizabeth; and D’Orazio, John, "Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome" (2014). Pediatrics Faculty Publications. 166.
https://uknowledge.uky.edu/pediatrics_facpub/166
Notes/Citation Information
Published in Case Reports in Genetics, v. 2014, article 273423, p. 1-7.
Copyright © 2014 Daryl Graham et al.
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.