一位患有神经纤维瘤病2型的年轻患者的缺血性小脑中风:病例报告。
Ischemic Cerebellar Stroke in a Young Patient With Neurofibromatosis Type 2: A Case Report.
发表日期:2023 Apr
作者:
Ariadne Trautman, Divyajot Sandhu
来源:
Brain Structure & Function
摘要:
2型神经纤维瘤病(NF2)是一种多方面的疾病,其主要特征是良性中枢神经系统肿瘤,尤其是脑膜瘤和听神经瘤。已在文献中报告了多起年轻NF2患者脑干缺血性中风的案例。迄今为止,关于NF2和儿童中风之间的联系尚无统一理论。我们报道了一例年轻NF2患者左小脑脚的缺血情况,并综述了以往的案例文献。序列磁共振成像(MRI)显示左小脑脚的初始局部弥散受限区,周围增强,随着时间推移有所改善,符合成熟梗死的特点。我们的案例与其他几例具有类似表现和发现。关于青少年NF2引起脑干缺血的主要理论是神经纤维瘤蛋白2缺陷所致的小血管原因,神经纤维瘤蛋白2是内皮发育调节因子。需要进行大样本NF2患者的多中心研究,以更好地描述这种综合征。版权归南达科他州医学协会所有。
Neurofibromatosis type 2 (NF2) is a multifaceted disease characterized primarily by benign CNS tumors, especially meningiomas and vestibular schwannomas. There have been several cases of brainstem ischemic stroke in young NF2 patients reported in the literature. To date, there is no unified theory about the connection between NF2 and pediatric stroke.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.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.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.Copyright© South Dakota State Medical Association.