化症患者周围神经系统的独特临床和电生理特征 - 一个案例系列研究研究
Sung-Ju Hsueh1, Chin-Hsien Lin2, Ni-Chung Lee3
1Department of Neurology, Yunlin County, National Taiwan University Hospital Yunlin Branch, 579 Sec. 2 Yunlin Road, Douliu, Taiwan.
Orphanet journal of rare diseases
|May 24, 2024
概括
化症涉及到周围神经系统,导致疼痛麻醉等症状. 神经生理学研究揭示了神经传导异常和F波变化,表明外围神经参与与中枢神经系统影响一起.
科学领域:
- 神经学 神经学
- 神经生理学 神经生理学
- 遗传学 遗传学 是一个
背景情况:
- 化症是一种溶酶体储存障碍.
- 典型的症状包括肌,和中枢神经系统过度兴奋.
- 研究了外周神经系统的参与.
研究的目的:
- 为了调查外周神经系统 (PNS) 在化剂中的参与.
- 为了将临床症状与神经生理学发现相关联.
主要方法:
- 招募了6名基因确诊的化症患者.
- 进行的神经生理学研究:神经传导研究 (NCS),F波研究和电肌学 (EMG).
主要成果:
- 四名患者经历了间歇性疼痛麻醉,有时是最早的症状.
- 在一些患者中,NCS显示幅度降低和延长的延迟时间.
- 在所有患者中,F波研究显示了延长的延迟,重复的F波,以及非常晚的反应,这表明近接神经或脊髓参与.
结论:
- 化症会影响中枢神经系统和外围神经系统.
- 临床症状与外围神经参与相关.
- 需要进一步的研究来理解这些PNS现象在sialidosis.
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