UNASSIGNED: A 36-year-old Caucasian male was admitted with headache and sudden increase in blood pressure. An abdominal CT scan revealed a retroperitoneal mass posterior to the inferior vena cava, later removed and diagnosed as a pheochromocytoma. Four years later, he noticed occasional mild headaches and a painless mass on the right side of his neck. The ultrasonography evaluations suggested a carotid body tumor, which was surgically removed. About a month after his second surgery, the severity of the patient\'s headaches worsened, and he developed right homonymous hemianopia. A brain MRI showed a mass in favor of macroadenoma, craniopharyngioma, or meningioma, and elevated prolactin level led to the diagnosis of macroprolactinoma.
METHODS: Based on the provided history, this patient was diagnosed with 3PA, and a genetic study identified a positive succinate-dehydrogenase-complex subunit b mutation, possibly linked to his family history of carotid body tumor.
RESULTS: He has remained symptom-free during his visits every 3 months.
CONCLUSIONS: The number of cases diagnosed with 3PA worldwide is increasing. Using clinical and genetic assessments, we can timely diagnose and adequately monitor individuals with or at risk of 3PA.
一名36岁的白人男性因头痛和血压突然升高入院。腹部CT扫描显示下腔静脉后方有腹膜后肿块,后来切除并诊断为嗜铬细胞瘤。四年后,他注意到偶尔有轻微的头痛和颈部右侧的无痛肿块。超声检查显示颈动脉体瘤,手术切除了.在他第二次手术一个月后,患者头痛的严重程度加重,他发展出了正确的同音偏盲。脑部MRI显示肿块有利于大腺瘤,颅咽管瘤,或者脑膜瘤,泌乳素水平升高导致大泌乳素瘤的诊断。
方法:根据提供的历史记录,这个病人被诊断为3PA,一项基因研究发现琥珀酸脱氢酶复合物亚基b突变阳性,可能与他的颈动脉体瘤家族史有关.
结果:患者在每3个月就诊期间保持无症状。
结论:全球诊断为3PA的病例数正在增加。使用临床和遗传评估,我们可以及时诊断和充分监测患有3PA或处于3PA风险的个体。