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神经内核包容性疾病与皮质参与左半球:一个病例报告
Xiao-Ju Wu1, Yi-Ying Jiang1, Li-Jie Chen1
1Department of Neurology, First Affiliated Hospital of Guangxi Medical University, 530021, Nanning, China.
Wiener klinische Wochenschrift
|June 30, 2023
概括
神经内核包容性疾病 (NIID) 呈现出各种症状和成像发现. 这种罕见疾病的早期诊断依赖于识别典型和非典型的大脑成像变化,由皮肤活检或遗传检测证实.
科学领域:
- 神经学 神经学
- 神经成像是一种神经成像.
- 罕见疾病 罕见疾病
背景情况:
- 神经内核包容性疾病 (NIID) 是一种罕见且高度异质的神经系统疾病.
- 这个案例突出了NIID与皮质参与在左脑半球.
研究的目的:
- 提出一个NIID病例与特定的皮质干涉.
- 为了说明与NIID相关的不断发展的神经成像变化.
主要方法:
- 一名57岁的女性患者患有经常性头痛,认知障碍和震.
- 大脑MRI包括扩散加权成像 (DWI) 和流体减弱反转恢复 (FLAIR) 序列.
- 皮肤活检和基因检测用于诊断确认.
主要成果:
- 在灰白质交叉点上,在DWI上特有的高强度信号,从前向后进展.
- 非典型的FLAIR发现,包括小脑虫中的不整体信号和左侧腰 temporal 叶中的皮质.
- 还观察到大脑缩和双边对称白脑病变.
结论:
- 早期诊断NIID需要意识到潜伏的症状和非典型的成像特征超出典型的放射性变化.
- 皮肤活检和基因检测对于确认疑似NIID病例至关重要.
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