与CSF1受体相关的白细胞大脑病变
Ikechukwu Chukwuocha1, Simon Ubben2, Mary O'Driscoll3
1Neurology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK ikechukwu.chukwuocha@nhs.net.
Practical neurology
|September 5, 2024
概括
一个罕见的成人发病型白血病缩症被诊断在一个患有进展性神经症状的病人. 基因分析揭示了一种新的殖民地刺激因子1受体 (CSF1R) 变体,突出了它在白内障病中的作用.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 神经成像是一种神经成像.
背景情况:
- 成人发病的白血病是影响白质的罕见遗传疾病.
- 殖民地刺激因子1受体 (CSF1R) 基因突变与白内障相关.
- 临床表现可能包括步态障碍,认知衰退和运动症状.
研究的目的:
- 报告一个成人发病的白血病.
- 为了确定患者神经疾病的遗传原因.
- 描述与新型CSF1R变异相关的临床和神经成像发现.
主要方法:
- 一位51岁妇女的临床评估,她的步态和认知障碍逐渐恶化.
- 磁共振 (MR) 脑成像,以评估白质异常.
- 基因分析用于识别候选基因中的致病变体.
主要成果:
- 患者呈现出精神运动减慢,硬, dystonia 和 bradykinesia.
- 脑部核磁共振扫描显示多焦点的皮下和周周结膜白质病变,体稀疏和扩散限制.
- 基因测试在CSF1R基因中发现了一种异构的致病变体,证实了自体主导白血脑病 (OMIM 221820).
结论:
- 这一案例突出了CSF1R相关的白细胞大脑病变的不寻常表现,没有显著的家族病史.
- 在成年期白血病的差异诊断中,应考虑CSF1R变异.
- 需要进一步的研究,以了解CSF1R相关的白细胞大脑病变的全谱.
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