University of Trieste, Piazzale Europa, 1, 34127, Trieste, Italy.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Ital J Pediatr. 2023 Sep 29;49(1):132. doi: 10.1186/s13052-023-01534-4.
Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma.
Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement.
This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews.
神经母细胞瘤是儿童期最常见的颅外实体瘤，约占婴儿期诊断出的所有癌症的 28%。神经母细胞瘤的症状和体征因肿瘤的发育部位而异，由于其临床表现的极端变异性，可能会模仿其他疾病。然而，斜颈在医学文献中并未被报道为神经母细胞瘤的主要症状。
这里我们报告了一例 3 岁女孩，有发热和颈部僵硬。血液检查显示轻度贫血和炎症标志物升高。CT 扫描显示一个实性、异质性、主要为低衰减的肾上腺肿块，伴偏心性钙化和椎体变异性广泛不均匀。血液检查显示神经元特异性烯醇化酶血清水平升高。24 小时尿液采集显示尿儿茶酚胺明显升高。立即开始进行神经母细胞瘤化疗，临床症状迅速改善。
本病例表明，斜颈可能是神经母细胞瘤的主要主诉。据我们所知，在最近的文献综述中，斜颈的危及生命的潜在病因中并未提及神经母细胞瘤。
