Tomkins Maria, McCabe Mark, Crowther Stephen, Kilgallen Clive, Little Dilly, Smith Diarmuid, Agha Amar
Department of Endocrinology and Diabetes Mellitus, Beaumont Hospital, Dublin, Ireland.
Department of Histopathology, Beaumont Hospital, Dublin, Ireland.
Eur J Case Rep Intern Med. 2022 Sep 28;9(9):003537. doi: 10.12890/2022_003537. eCollection 2022.
A 22-year-old woman presented with a 12-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. An extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, with a mean 24-hour ambulatory blood pressure of 150/100 mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, while plasma metanephrines were normal. Computed tomography identified a 4.4 cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions. Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, and SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germline heterozygous SDHB gene variant c.723C>G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. An extended family history should be sought and suspicion for a genetic cause should be raised, especially when the condition presents at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C>G.
Bladder paragangliomas are a rare neuroendocrine tumour which should be considered when assessing patients with haematuria and hypertension, headache, palpitations, sweating and facial pallor with micturition.This case highlights the importance of a thorough clinical history with an extended family history and examination in the setting of micturition syncope, which can rarely occur with bladder paraganglioma.Young age at presentation, a family history of phaeochromocytoma and paraganglioma (PPGL), unusual paraganglioma location, mutifocality and aggressive disease should raise the suspicion for a genetic predisposition to PPGL.
一名22岁女性，有12年逐渐加重的排尿后阵发性焦虑、心悸及反复晕厥病史。患者因发现高血压被转诊至内分泌科。详细家族史显示两位叔祖父患有转移性嗜铬细胞瘤和副神经节瘤。临床检查发现高血压，24小时动态血压平均为150/100 mmHg。仰卧位血浆去甲变肾上腺素明显升高，3-甲氧基酪胺升高，而血浆变肾上腺素正常。计算机断层扫描在膀胱壁右后外侧缘发现一个4.4 cm的肿块。闪烁显像证实膀胱单发病灶摄取，无其他转移病灶。术前α受体阻滞剂治疗后，患者接受了部分膀胱切除术。组织学证实为副神经节瘤，肿瘤细胞中SDHB染色缺失，符合与SDHB相关的副神经节瘤。术后血浆去甲变肾上腺素、3-甲氧基酪胺和血压恢复正常。基因筛查发现种系杂合SDHB基因变异c.723C>G。膀胱副神经节瘤罕见，但在调查排尿后晕厥时是一个重要的鉴别诊断。应询问详细家族史，尤其是在年轻患者中，应提高对遗传病因的怀疑。这是首例报道的携带SDHB基因变异c.723C>G的嗜铬细胞瘤或副神经节瘤病例。
膀胱副神经节瘤是一种罕见的神经内分泌肿瘤，在评估有血尿、高血压、头痛、心悸、排尿时出汗和面色苍白的患者时应予以考虑。本病例强调了在排尿后晕厥情况下，详细的临床病史、家族史及检查的重要性，膀胱副神经节瘤很少出现这种情况。发病年龄轻、有嗜铬细胞瘤和副神经节瘤（PPGL）家族史、副神经节瘤位置异常、多灶性及侵袭性疾病应提高对PPGL遗传易感性的怀疑。
