التفاصيل البيبلوغرافية
| العنوان: |
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome. |
| المؤلفون: |
Graham, Daryl, Gooch, Megan, Zhan Ye, Richer, Edward, Chishti, Aftab, Reilly, Elizabeth, D'Orazio, John |
| المصدر: |
Case Reports in Genetics; 2014, p1-7, 7p |
| مصطلحات موضوعية: |
PARAGANGLIOMA, PHEOCHROMOCYTOMA, BLOOD pressure, JUVENILE diseases, DEHYDROGENASES, PATIENTS |
| مستخلص: |
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 paragangliomapheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency. [ABSTRACT FROM AUTHOR] |
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