与CSF1R相关的成人发病白细胞脑病变:西班牙首例报告病例
Cristina Moreno Loscertales1,2, Paula Canasto Jiménez1, Mario Bautista Lacambra1
1Department of Neurology, Memory and Behavioral Disorder Clinic, Miguel Servet Hospital.
Alzheimer disease and associated disorders
|May 30, 2023
概括
殖民地刺激因子1受体相关的成年发病白细胞大脑病变,一种罕见的小结质病变,呈现出认知能力下降,并且经常被误诊. 早期诊断对于这种未被认可的疾病至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 神经免疫学 神经免疫学
背景情况:
- 殖民地刺激因子1受体相关的成年发病白细胞脑病变 (CFS1R-ALO) 是一种主要的微结质病变.
- 它经常被误诊为前性痴呆症或其他神经退行性疾病.
- CFS1R-ALO被认为是最常见的成人发病型白血病.
研究的目的:
- 报告西班牙第一个记录的PROS病例.
- 扩展PROS的临床和神经成像特征.
- 为了强调大脑成像对这个被诊断不足的实体的诊断重要性.
主要方法:
- 一个67岁的老人的病例报告.
- 临床和神经学评估.
- 大脑成像 (MRI) 识别白脑病变,化和体稀疏.
- 基因检测以确认殖民地刺激因子1受体基因中的致病变体.
主要成果:
- 患者呈现出渐进的行为和认知障碍,包括冷漠,抑制,沉默和计划缺陷.
- 神经学检查显示下肢是金字塔式的.
- 脑部成像显示了对称的额头白脑病变,双边额头化和体稀疏.
- 遗传分析证实了殖民地刺激因子1受体中的异性致病变体.
结论:
- 这一案例突出了PROS复杂的表型及其误诊的潜力.
- 神经成像发现对于怀疑和诊断PROS至关重要.
- 对于这种未被确诊的白血病缩症,需要提高认识和诊断警.
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