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神经囊性病:通过元基因组下一代测序进行诊断

Denison Alves Pedrosa¹, Gustavo Bruniera Peres Fernandes², Luís Filipe de Souza Godoy³

¹General Neurology Division, Albert Einstein Israeli Institute of Education and Research, São Paulo, Brazil.

Practical neurology

|July 19, 2023

概括

诊断慢性脑膜炎可能具有挑战性. 下一代元基因组测序成功地在一个巴西妇女中发现了神经囊硬化症,该妇女表现出神经症状和脑脊液异常.

科学领域:

神经学神经学
传染性疾病传染性疾病
基因组学就是基因组学.

背景情况:

慢性脑膜炎带来诊断挑战,经常模仿其他神经疾病.
神经囊性,是中枢神经系统的寄生虫感染,可以导致慢性脑膜炎.
下一代元基因组测序 (mNGS) 提供了一种强大的工具,用于在复杂情况下识别传染病原体.

研究的目的:

呈现一个神经囊性脑膜炎病例,呈现为慢性脑膜炎.
突出神经感染中元基因组下一代测序的诊断实用性.
强调诊断慢性脑膜炎不常见原因的挑战.

主要方法:

一个68岁的巴西妇女的临床案例介绍,她患有进展性神经症状.
大脑MRI揭示了沟通的水头.
脑脊液分析显示了淋巴细胞多细胞化,蛋白质升高和低葡萄糖.
甲基因组下一代测序被用于病因诊断.

主要成果:

患者表现出疲劳,步态不适以及执行功能障碍.
脑脊液分析显示慢性脑膜炎.
下一代元基因组测序确定了神经囊性作为致病因子.
诊断得到证实,强调了mNGS的有效性.

结论:

在慢性脑膜炎的差异诊断中,应考虑神经囊性脑膜炎,特别是在特有地区.
下一代元基因组测序是诊断具有挑战性的神经感染的一个有价值的工具.
这一案例强调了先进分子技术在现代神经病学中的重要性.

关键词:

亚普拉西亚 (apraxia) 是一种不适应性的感觉.认知能力认知能力在CSF的CSF中,盖伊特 (GAITIT) 是一个传染病传染病传染病

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