Faculty of Medicine, SEGi University, Kota Damansara, Malaysia
Department of Paediatrics, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia.
BMJ Case Rep. 2021 Dec 22;14(12):e245154. doi: 10.1136/bcr-2021-245154.
Pheochromocytomas are rare in children. The diagnosis is usually established from a raised urinary or plasma catecholamine or their metabolites. We present a girl aged 11 years who manifested with a hypertensive crisis secondary to an adrenal tumour but with unexpectedly normal urinary metanephrine and catecholamine results. She improved spontaneously following the crisis and underwent surgery later. The histopathological study confirmed a pheochromocytoma with large central necrosis. Her genetic screening reported a pathogenic von Hippel-Lindau gene mutation. Surveillance scan postsurgery detected no other tumours. Following the catecholamine crisis, an acute infarct occurred, resulting in extensive tumour necrosis and subsequent rapid remission of symptoms and paradoxically normal biochemical markers. Although not unheard of in adults, we believe this is the first reported case of an extensive spontaneous necrosis resulting in a biochemically normal pheochromocytoma in a child.
嗜铬细胞瘤在儿童中较为罕见。诊断通常基于尿或血浆儿茶酚胺或其代谢物的升高。我们报告了一例 11 岁女孩，因肾上腺肿瘤继发高血压危象，但尿间甲肾上腺素和儿茶酚胺结果异常正常。在危机后她自发改善，并随后进行了手术。组织病理学研究证实为嗜铬细胞瘤伴中央大片坏死。基因筛查报告存在致病性 von Hippel-Lindau 基因突变。术后的监测扫描未发现其他肿瘤。儿茶酚胺危象后发生急性梗死，导致广泛肿瘤坏死，随后症状迅速缓解，而生化标志物却异常正常。虽然在成人中并非罕见，但我们认为这是首例报道的儿童广泛自发性坏死导致生化正常的嗜铬细胞瘤的病例。
