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 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.... The annual incidence rate for PCCs and PGLs is roughly 1 in 100,000 persons, with up to 20% occurring in the pediatric age range. Among affected children, 70% of cases are unilateral, are localized to the adrenal gland, and are presenting between the ages of 6 and 14 years with a mean of 11 years. The majority of PCCs diagnosed in children are benign, with tumors remaining localized to their site of origin and cured by surgical resection alone [11]. Because of unregulated sympathetic release, PCCs can precipitate serious comorbid conditions; therefore, timely diagnosis and management are important. Daryl Graham, Megan Gooch, Zhan Ye, et al., “Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome,” Case Reports in Genetics, vol. 2014, Article ID 273423, 7 pages, 2014. doi:10.1155/2014/273423. hindawi/journals/crig/2014/273423/cta/
Posted on: Fri, 24 Oct 2014 08:19:29 +0000
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