Neurology Department, Movement Disorders Unit, 12 de Octubre University Hospital, Avda de Córdoba s/n, 28041 Madrid, Spain.
J Clin Neurosci. 2012 Jul;19(7):1046-7. doi: 10.1016/j.jocn.2011.05.033. Epub 2012 Apr 3.
Hemifacial spasm (HFS) is usually produced by compression of the facial nerve by tortuous blood vessels at the root exit zone, including vertebrobasilar dolichoectasia (VBD). Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a variety of symptoms, affecting mainly the skin and nervous system. Cerebrovascular abnormalities are becoming a recognized complication of the disease and the most constantly described lesions are stenosis and occlusions affecting the internal carotid artery. VBD has rarely been associated with NF1. We report a 38-year-old female patient with HFS produced by VBD with NF1 presenting with other cerebrovascular abnormalities associated with this disease. We discuss the possible association between these three entities, assuming that a causal relationship may be established and that VBD is part of the spectrum of vascular abnormalities caused by NF1 in this patient.
面肌痉挛(HFS)通常是由面神经根部出口区迂曲血管压迫引起的,包括椎基底动脉延长扩张症(VBD)。神经纤维瘤病 1 型(NF1)是一种常染色体显性遗传病,有多种症状,主要影响皮肤和神经系统。脑血管异常正成为该疾病的一种公认并发症,最常描述的病变是狭窄和闭塞影响颈内动脉。VBD 很少与 NF1 相关。我们报告了一例 38 岁女性患者,患有由 VBD 引起的 HFS,同时患有 NF1 并伴有其他与该疾病相关的脑血管异常。我们讨论了这三个实体之间可能存在的关联,假设可能建立因果关系,并且 VBD 是该患者 NF1 引起的血管异常谱的一部分。