Background

Moyamoya syndrome (MMS) is a progressive cerebral arteriopathy with increased incidence in children with neurofibromatosis type 1 (NF1). Despite the potential for significant neurological morbidity including stroke, little is known about the natural history, and no guidelines exist for screening and management of NF1-associated MMS.

Methods

We identified 152 literature cases of children aged ≤18 years with NF1-associated MMS. A meta-analysis was performed evaluating clinical and neuroimaging findings and patient outcomes. Data from 19 patients with NF1-associated MMS from our center treated from January 1995 to July 2020 were abstracted via chart review and similarly analyzed for clinical and neuroimaging features.

Results

Meta-analysis of literature cases showed a median age of MMS diagnosis of 6 years (interquartile range 3 to 10.8 years). Optic pathway gliomas were more common in patients with MMS (42%) compared with historical prevalence. Stroke or transient ischemic attack (TIA) was present at diagnosis in 46%. TIA and stroke were more common in patients with bilateral versus unilateral MMS (62% vs 34%, P = 0.001) and in children aged <4 years versus those aged ≥4 years (61% vs 40%, P = 0.02). Compared with the literature cases, our cohort was more frequently asymptomatic (42% vs 25%) and less likely to present with TIA or stroke (32% vs 46%) at diagnosis.

Conclusions

These data suggest there is an aggressive form of MMS in children with NF1 <4 years of age. Therefore, early screening should be considered to facilitate early detection and treatment of cerebral arteriopathy.

中文翻译：

---

1型神经纤维瘤病儿科患者烟雾病综合征的特征

背景

烟雾病综合征 (MMS) 是一种进行性脑动脉病，在患有 1 型神经纤维瘤病 (NF1) 的儿童中发病率增加。尽管包括中风在内的显着神经系统疾病可能发生，但对自然病程知之甚少，并且没有针对 NF1 相关 MMS 的筛查和管理指南。

方法

我们确定了 152 例 18 岁以下儿童患有 NF1 相关 MMS 的文献病例。进行了一项荟萃分析，评估临床和神经影像学发现以及患者结果。通过图表回顾提取了我们中心 1995 年 1 月至 2020 年 7 月治疗的 19 名 NF1 相关 MMS 患者的数据，并类似地分析了临床和神经影像学特征。

结果

文献病例的荟萃分析显示 MMS 诊断的中位年龄为 6 岁（四分位距为 3 至 10.8 岁）。与历史患病率相比，MMS 患者的视神经胶质瘤更为常见（42%）。46% 的患者在诊断时出现中风或短暂性脑缺血发作 (TIA)。TIA 和卒中在双侧与单侧 MMS 患者中更常见（62% 对 34%，P  = 0.001）和年龄 <4 岁的儿童与≥4 岁的儿童（61% 对 40%，P  = 0.02）。与文献病例相比，我们的队列在诊断时更常无症状（42% 对 25%）并且不太可能出现 TIA 或中风（32% 对 46%）。

结论

这些数据表明在 NF1 <4 岁的儿童中存在一种侵袭性的 MMS。因此，应考虑早期筛查，以利于脑动脉病的早期发现和治疗。