与静态大脑小脑损伤相关的迟缓进展性无氧 - - 考虑SCA27B
Tsz Hang Wong1, Jamie Manuputty2, Tom van Seeters3
1Department of Neurology, Medisch Spectrum Twente, Koningstraat 1, Enschede, 7512 KZ, The Netherlands. tszhang.wong@radboudumc.nl.
Cerebellum (London, England)
|January 17, 2025
概括
由FGF14基因重复扩张引起的27B类型的脊髓小脑动症 (SCA27B),可以模仿脑部手术后恶化的动症. 基因检测证实了SCA27B在经历了脑膜瘤切除多年后进展的神经症状的患者身上.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
背景情况:
- 27B型脊髓小脑动症 (SCA27B) 与纤维细胞生长因子14 (FGF14) 基因重复扩张有关.
- 晚期发作的小脑动症的诊断可能具有挑战性,特别是当与其他神经疾病叠加时.
研究的目的:
- 为了呈现一个SCA27B的病例,模仿脑膜瘤手术后的渐进性小脑症状.
- 强调FGF14重复扩张的基因测试在非典型的无氧病例中的重要性.
主要方法:
- 临床病例的介绍.
- 神经成像分析 (MRI).
- 对FGF14重复扩张的基因测试.
主要成果:
- 一名患有脑膜瘤手术史的患者在切除术后12年出现了渐进的眼运动障碍,言语困难,头和步行失衡.
- 神经成像显示小脑异常,最初归因于手术损伤.
- 基因检测证实了FGF14的重复扩张,诊断了SCA27B.
结论:
- 应考虑FGF14重复扩张 (SCA27B) 在渐进的小脑动症与眼运动征兆的差异诊断中,即使有静态小脑病变的病史.
- 这一案例强调了SCA27B所带来的诊断挑战,特别是在先前有神经损伤的患者中.
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