title: Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.
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.
authors.affiliation: Department of Pediatrics, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Daryl
authors.identifier: 0000-0002-9887-6267
authors.initials: D
authors.lastname: Graham
authors.affiliation: University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Gooch
authors.affiliation: Department of Pathology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Zhan
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Department of Radiology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Edward
authors.initials: E
authors.lastname: Richer
authors.affiliation: Department of Pediatrics, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Aftab
authors.initials: A
authors.lastname: Chishti
authors.affiliation: Markey Cancer Center, University of Kentucky College of Medicine, Combs Research Building, 800 Rose Street, Lexington, KY 40536-0096, USA.
authors.forename: Elizabeth
authors.identifier: 0000-0001-6001-0858
authors.initials: E
authors.lastname: Reilly
authors.affiliation: Department of Pediatrics, University of Kentucky College of Medicine, Lexington, KY 40536, USA ; Markey Cancer Center, University of Kentucky College of Medicine, Combs Research Building, 800 Rose Street, Lexington, KY 40536-0096, USA.
authors.forename: John
authors.initials: J
authors.lastname: D'Orazio