Pan Dongxue, Cai Shijun, Pan Cong, Fu Simao
Zhongshan City People's Hospital, Zhongshan City, Guangdong Province, China.
J Pediatr Endocrinol Metab. 2025 May 26;38(8):855-862. doi: 10.1515/jpem-2025-0079. Print 2025 Aug 26.
This study aims to highlight the rare yet significant cause of secondary hypertension in pediatric patients, specifically pheochromocytoma (PCC) and paraganglioma (PGL) and to discuss the diagnostic challenges and lessons learned from misdiagnosis in a pediatric case.
We present the case of an 8-year-old boy with a 2-year history of sustained hypertension, initially attributed to brainstem encephalitis. Despite antihypertensive therapy, his blood pressure remained elevated. After 2 years, symptoms such as diaphoresis and failure to thrive prompted further investigation. Biochemical tests revealed elevated urinary normetanephrine levels, and imaging identified a retroperitoneal mass. The diagnosis of retroperitoneal paraganglioma was confirmed, and surgical intervention resulted in the normalization of blood pressure and symptom resolution during the 1-year follow-up.
This case underscores the importance of considering rare causes of secondary hypertension, such as PGL, even in the absence of classic symptoms. Early biochemical testing, appropriate imaging, and multidisciplinary follow-up are essential for accurate diagnosis and optimal management in pediatric hypertension. Genetic testing is also crucial, particularly in pediatric cases where hereditary factors are prevalent.
本研究旨在强调小儿患者继发性高血压的罕见但重要的病因，特别是嗜铬细胞瘤（PCC）和副神经节瘤（PGL），并讨论诊断挑战以及从一例儿科病例误诊中吸取的教训。
我们报告一例8岁男孩，有2年持续性高血压病史，最初归因于脑干脑炎。尽管进行了抗高血压治疗，其血压仍持续升高。2年后，多汗和生长发育迟缓等症状促使进一步检查。生化检查显示尿去甲肾上腺素水平升高，影像学检查发现腹膜后肿块。腹膜后副神经节瘤诊断得以证实，手术干预后，在1年随访期间血压恢复正常，症状缓解。
该病例强调了即使没有典型症状，也需考虑继发性高血压的罕见病因，如PGL。早期生化检查、适当的影像学检查以及多学科随访对于小儿高血压的准确诊断和最佳管理至关重要。基因检测也很关键，尤其是在遗传因素普遍存在的儿科病例中。
