Neurology:见于抗IgLON5病的面部肌纤维颤搐和肌肉律动

2018-11-22 zyx整理 神经科病例撷英拾粹

79岁女性,表现为异态睡眠,进行性延髓综合征(构音障碍,吞咽困难),面部肌纤维颤搐和下颌肌肉律动8月(视频),导致下唇咬伤。脑MRI和脑电图无殊。脑脊液化验提示鞘内抗体合成和tau(372pg/mL,0-320pg/mL)和磷酸化tau(54pg/mL,0-50pg/mL)升高。

脑脊液和血清抗IgLON5抗体高度阳性(1:1000)。诊断为抗IgLON5病。作为抗IgLON5病的一部分,识别延髓症状伴肌纤维颤搐和肌肉律动对于早期开始免疫治疗以预防其进展为神经变性是重要的。






(见于抗IgLON5病的面部肌纤维颤搐,肌肉律动和异态睡眠。患者的运动障碍表现如下:首先,前额的面部肌纤维颤搐;其次,下颌肌肉律动[1Hz]。可以观察患者伴抓握动作和发声的异态睡眠。也可听到喘鸣样声音)

原始出处:Vetter E, Olmes DG, Linker R, Seifert F. Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease: The bitten lip.Neurology. 2018 Oct 23;91(17):e1659.

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