一个反复出现的情况
Julia Macintosh1,2, Isabelle Thiffault3,4,5, Tomi Pastinen3,4,6
1Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Child neurology open
|June 7, 2023
概括
新的研究确定了EIF2AK2基因中的新变异作为白细胞脑病变的原因. 这种遗传性疾病在婴儿期呈现出类似于Pelizaeus-Merzbacher病 (PMD) 的症状.
科学领域:
- 神经遗传学 神经遗传学
- 分子遗传学 分子遗传学
- 发育神经科学的发展神经科学.
背景情况:
- 白细胞大脑病是一组脑部疾病,其特点是白质异常.
- 佩利塞乌斯-默兹巴赫病 (PMD) 是一种罕见的遗传性神经系统疾病,影响大脑中的髓蛋白.
- 最近的研究表明,EIF2AK2中的新型病原体变异是导致白内障的潜在原因.
研究的目的:
- 报告一个患有PMD的临床和放射学特征的男婴病例.
- 为了研究观察到的白细胞大脑病变的遗传基础.
- 进一步确定EIF2AK2变体是导致PMD类白血病的原因.
主要方法:
- 对一个出现早期神经症状的男婴进行临床评估.
- 神经成像 (脑MRI) 来评估白质异常.
- 基因分析以确定EIF2AK2.2.中的致病变体.
主要成果:
- 患者表现出阴囊,低血压,全局发育迟缓,无氧,性.
- 大脑MRI显示了扩散的低髓化,与白血病缩一致.
- 基因分析在EIF2AK2基因中发现了新的致病变体.
结论:
- 这一案例增加了越来越多的证据,将EIF2AK2变异与白细胞大脑病变联系起来.
- 临床和放射学表现非常类似于Pelizaeus-Merzbacher疾病 (PMD).
- 在对患有PMD类白血病的个体进行基因检查时,应考虑EIF2AK2.
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