Roque João José Nunes, Martins Carlos, Bugalho Maria João Guerreiro Martins
Endocrinology Department, Hospital de Santa Maria, Lisboa, Portugal.
Vascular Surgery Department, Hospital de Santa Maria, Lisboa, Portugal.
BMJ Case Rep. 2022 Mar 29;15(3):e247023. doi: 10.1136/bcr-2021-247023.
Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumours, frequently associated with genetic syndromes. We report the case of a man in his 40s with a left anterior neck mass and a history of hypertensive crisis, heavy sweating and constipation. Biochemical tests showed increased plasma and urine normetanephrines. Neck ultrasound suggested left carotid body PGL, but it was mandatory to search for other lesions. Whole-body MIBG failed to show abnormal uptake. Abdominal MRI was suggestive of another PGL, anterior to the right adrenal gland. Abdominal surgery was performed uneventfully under alpha and beta blockers. This intervention proved to be effective, as normetanephrines levels became completely normal after 1 month. Carotid body PGL was successfully excised 4-months later. Genetic study identified a large deletion in exon 1 of the SDHB gene allowing the diagnosis of paraganglioma syndrome type 4 (PGL4). After 19 months of follow-up, he is still on clinical and biochemical remission and will continue life-long surveillance.
嗜铬细胞瘤和副神经节瘤（PGL）是罕见的神经内分泌肿瘤，常与遗传综合征相关。我们报告了一例40多岁男性病例，该患者左前颈部有肿块，并有高血压危象、多汗和便秘病史。生化检查显示血浆和尿去甲肾上腺素水平升高。颈部超声提示左侧颈动脉体副神经节瘤，但必须寻找其他病变。全身间碘苄胍（MIBG）显像未显示异常摄取。腹部磁共振成像（MRI）提示右肾上腺前方还有一个副神经节瘤。在α和β受体阻滞剂的作用下，顺利进行了腹部手术。该干预措施证明是有效的，因为去甲肾上腺素水平在1个月后完全恢复正常。4个月后成功切除了颈动脉体副神经节瘤。基因研究发现SDHB基因第1外显子存在大片段缺失，从而诊断为4型副神经节瘤综合征（PGL4）。经过19个月的随访，他仍处于临床和生化缓解状态，并将继续接受终身监测。
