METHODS: We present a case of ischemia in the left cerebellar peduncle of a young patient with NF2, as well as a narrative review of the literature of previous cases.
RESULTS: Serial magnetic resonance images (MRIs) displayed an initial area of restricted diffusion in the left cerebellar peduncle with peripheral enhancement which did improve over several months, consistent with maturing infarct.
CONCLUSIONS: Our case joins several others with similar presentations and findings. The primary theory for the cause of brainstem ischemia in juvenile NF2 is a microvascular cause due to deficiency of neurofibromin 2, a regulator of endothelial development. Multicenter studies with large NF2 cohorts are needed to better characterize this syndrome.
方法:我们介绍一例年轻的NF2患者左小脑柄缺血的病例,并对以往病例的文献进行叙述性回顾。
结果:系列磁共振图像(MRI)显示左小脑梗的初始扩散受限区域,并伴有外周增强,并在几个月内有所改善。与成熟的梗塞一致。
结论:我们的案例与其他几个案例有类似的陈述和发现。青少年NF2脑干缺血原因的主要理论是由于神经纤维蛋白2缺乏而导致的微血管原因,神经纤维蛋白2是内皮发育的调节剂。需要使用大型NF2队列的多中心研究来更好地表征该综合征。