Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Medicine (Baltimore). 2021 Nov 19;100(46):e27888. doi: 10.1097/MD.0000000000027888.
Paraganglioma (PGL), an extra-adrenal pheochromocytoma, is a rare tumor, especially in children. While hypersecretion of catecholamines causes the classic triad of headaches, palpitations, and profuse sweating, prompt diagnosis is still challenging.
For 7 months, an 8-year-old boy complained of polyuria and weight loss, followed by proteinuria and headache for 1 month prior to admission. He was admitted to our hospital due to an afebrile seizure.
His blood pressure remained markedly elevated even after cessation of the convulsion. Magnetic resonance imaging of the brain revealed posterior reversible encephalopathy syndrome. Abdominal computed tomography showed a mass lesion encasing the left renal artery, measuring 41 mm in length along its major axis. The plasma and urine levels of normetanephrine were elevated. Additionally, iodine-123-metaiodobenzylguanidine scintigraphy showed an abnormal uptake in the abdominal mass with no evidence of metastasis. Based on these findings, we tentatively diagnosed him with PGL.
Substantial alpha- and beta-blocking procedures were performed, followed by a tumor resection and an extended left nephrectomy on day 31 of hospitalization. Pathological findings confirmed the diagnosis of PGL.
The postoperative course was uneventful, and his blood pressure normalized without the use of antihypertensive agents. Genetic testing revealed a known SDHB germline mutation. The same mutation was also detected on his father and paternal grandfather without any history of hypertension or malignant tumor.
It remains challenging to diagnose pheochromocytoma/paraganglioma (PPGL) promptly because PPGL can present with a variety of symptoms. Preceding symptoms of the presented case might be caused by PGL. Although PPGL is a rare disease, especially in children, it should be considered in differential diagnosis when various unexplained symptoms persist.
副神经节瘤（PGL）是一种罕见的嗜铬细胞瘤，发生于肾上腺外。尽管儿茶酚胺的过度分泌会引起经典的三联征，即头痛、心悸和大量出汗，但及时诊断仍具挑战性。
一名 8 岁男孩诉 7 个月来出现多尿和体重减轻，随后 1 个月前出现蛋白尿和头痛，因无热惊厥入院。
即使在惊厥停止后，他的血压仍明显升高。脑磁共振成像显示后可逆性脑病综合征。腹部计算机断层扫描显示一个肿块包绕左肾动脉，长径 41mm。血浆和尿液中去甲变肾上腺素水平升高。此外，碘-123-间碘苄胍闪烁显像显示腹部肿块有异常摄取，但无转移证据。基于这些发现，我们初步诊断为 PGL。
进行了充分的α和β阻断治疗，然后在入院第 31 天行肿瘤切除术和左肾扩大切除术。病理检查结果证实了 PGL 的诊断。
术后过程顺利，血压正常，无需使用降压药物。基因检测显示存在已知的 SDHB 种系突变。他的父亲和祖父也携带相同的突变，但没有高血压或恶性肿瘤的病史。
由于 PGL 可表现出多种症状，因此及时诊断嗜铬细胞瘤/副神经节瘤（PPGL）仍然具有挑战性。本例患者的前驱症状可能由 PGL 引起。尽管 PPGL 是一种罕见疾病，尤其是在儿童中，但当出现各种不明原因的症状时，应考虑将其纳入鉴别诊断。
