Department of Medical Imaging, Taipei Medical University Hospital, Taipei City, Taiwan.
Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan.
Childs Nerv Syst. 2024 Jul;40(7):2251-2255. doi: 10.1007/s00381-024-06398-5. Epub 2024 May 6.
Sporadic vestibular schwannomas (VSs) are rare in children. When occurred in the pediatric population, they usually appear bilaterally and are related to neurofibromatosis type 2 (NF2). The current study reports a 4-year-old boy without family history of VS or NF2 who presented with a large (5.7-cm) VS involving the right cerebellopontine angle and internal auditory canal. Through seven-staged surgical interventions and two stereotactic γ‑knife radiosurgery, the disease was stabilized. At 2-year follow-up, the child had right ear hearing loss, grade IV facial palsy, and normal motor function and gait. No definite evidence of gene mutation regarding NF2 can be identified after sequence analysis and deletion/duplication testing. This case highlights the significance of considering the possibility of sporadic VSs, even in very young children. It emphasizes the importance of not overlooking initial symptoms, as they may indicate the presence of a large tumor and could potentially result in delayed diagnosis.
散发性前庭神经鞘瘤(VSs)在儿童中较为罕见。当发生在儿科人群中时,它们通常为双侧,并与神经纤维瘤病 2 型(NF2)相关。本研究报告了一例 4 岁男孩,无 VS 或 NF2 的家族史,表现为累及右侧桥小脑角和内听道的大型(5.7cm)VS。通过七阶段的手术干预和两次立体定向 γ-刀放射外科手术,该疾病得到了稳定。在 2 年的随访中,患儿出现右耳听力损失、IV 级面瘫,以及正常的运动功能和步态。经序列分析和缺失/重复检测后,未发现 NF2 基因突变的确切证据。该病例强调了即使是非常年幼的儿童,也应考虑散发性 VSs 的可能性,不可忽视初始症状,因为它们可能表明存在大型肿瘤,并可能导致诊断延迟。