Department of Surgery, University of Abuja Teaching Hospital and College of Health Sciences, University of Abuja, Abuja, Nigeria.
Department of Radiology, University of Abuja Teaching Hospital and College of Health Sciences, University of Abuja, Nigeria.
Pan Afr Med J. 2022 Oct 13;43:79. doi: 10.11604/pamj.2022.43.79.29159. eCollection 2022.
Paragangliomas are extremely rare neuroendocrine tumors with an incidence of 0.3 cases per million in children. They arise from several sites in the body including the orbit, ear, nose, larynx, carotid area, mediastinum, duodenum, and the genitourinary tract. Germline mutations have been identified in paragangliomas involving the proto-oncogene RET, tumor suppressor genes VHL, and NF1 The commonest clinical presentation is hypertension but incidentally detected forms have been reported during imaging and on a few occasions the diagnosis was missed. The authors report on a case of a 12-year-old male with a history of fever, left flank pain, vomiting, and headaches, finally diagnosed by pathological examination of a resected retroperitoneal mass invading the proximal left ureter. Immunohistochemistry was positive for neuron-specific enolase, NSE (chief cells), and S-100 protein (sustentacular cells) all consistent with paragangliomas. The challenges faced by the team in the preoperative evaluation and surgical treatment are reported.
嗜铬细胞瘤是一种极其罕见的神经内分泌肿瘤，儿童发病率为每百万分之 0.3。它们起源于身体的多个部位，包括眼眶、耳朵、鼻子、喉咙、颈动脉区、纵隔、十二指肠和泌尿生殖系统。已在涉及原癌基因 RET、肿瘤抑制基因 VHL 和 NF1 的嗜铬细胞瘤中发现种系突变。最常见的临床表现是高血压，但也有报道在影像学检查中偶然发现的无症状形式，在少数情况下，该诊断被遗漏。作者报告了一例 12 岁男性病例，有发热、左侧腰痛、呕吐和头痛病史，最终通过对侵犯左侧近端输尿管的腹膜后肿块的病理检查确诊。免疫组织化学染色神经元特异性烯醇化酶（NSE）阳性（主细胞）和 S-100 蛋白阳性（支持细胞），均符合嗜铬细胞瘤。报告了团队在术前评估和手术治疗中面临的挑战。
