急性静脉综合征揭露一个RFC1-频谱障碍
Luca Verrecchia1, Victor Alm2, Håkan Thonberg3
1ENT Unit, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
Neurology. Genetics
|January 22, 2025
概括
一种罕见的RFC1频谱障碍,即使没有典型的神经病变,也可以表现为急性前体综合征和咳. 基因测试证实了RFC1中的核酸扩张,扩大了已知的临床谱.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 在RFC1中双性核酸扩张会导致小脑缩症,神经病变和前置缩症综合征.
- 与RFC1扩展相关的广泛的临床范围越来越被认可.
研究的目的:
- 报告一个RFC1频谱障碍病例,呈现出急性前体综合征.
- 为了突出RFC1频谱障碍的一个不寻常的表现.
主要方法:
- 进行了临床评估,神经成像,前庭功能测试和神经传导研究.
- 短读全基因组测序 (WGS) 和长读适应测序被用于基因分析.
主要成果:
- 患者出现了急性前体综合征,随后出现了双边前体反和步态无力.
- 尽管脑部MRI和电生理学正常,但严重的咳发作表明RFC1频谱障碍.
- 在RFC1中,WGS发现了一种递归的内部核酸扩张,通过长读测序证实了这一点.
结论:
- 急性前体综合征和咳发作可以呈现RFC1频谱障碍的症状.
- 即使没有神经病变或神经放射学发现,也应该怀疑RFC1频谱障碍.
- 这个案例扩大了RFC1频谱障碍的临床表现.
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