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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Sources of support are The University of Kentucky College of Medicine and the Markey Cancer Center.
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.