Multiple Paragangliomas in a Pregnant Patient with a Succinate Dehydrogenase B Mutation

作者：Ganguly Sonali^*; LeBeau Shane; Pierce Kim; Ramanathan Ramesh; Salata Rose

来源：Postgraduate Medicine, 2010, 122(6): 46-50.

DOI：10.3810/pgm.2010.11.2222

• paragangliomas
• succinate dehydrogenase B mutation
• pregnancy
• genetic testing

In this case report, we document the clinical course, laboratory findings, and imaging findings of a 21-year-old pregnant woman with multiple paragangliomas due to a succinate dehydrogenase B (SDHB) mutation. We also review the literature on previously reported cases. The patient presented with nausea, palpitations, angina, and amenorrhea. Her blood pressure was 170/100 mm Hg and her beta-human chorionic gonadotropin was positive. Her blood pressure remained high despite phenoxybenzamine titration. A 24-hour urine analysis revealed elevated plasma metanephrines. Imaging was initially deferred due to early gestational age. After the patient terminated the pregnancy, magnetic resonance imaging revealed a left suprarenal mass, a mass at the aortic bifurcation, and a left periaortic mass. Her blood pressure was controlled on phenoxybenzamine and labetalol. The masses were excised. Pathology revealed paragangliomas. Genetic testing revealed mutation in the SDHB gene. One month later, her blood pressure was 122/86 mm Hg off of medication. Paraganglioma/pheochromocytoma should be suspected when hypertension occurs early in pregnancy. Genetic testing is important, as this may impact future offspring.

• 出版日期2010-11