神经内核包容性疾病与中风模仿发病:一个病例报告和系统审查
Hanchao Cai1, Yanqin Fan2, Yanni Yu2
1Department of Encephalopathy, Shenzhen Hospital (Futian) of Guangzhou University of Chinese Medicine, Shenzhen, China.
概括
神经内核包容性疾病 (NIID) 可以模仿中风,延迟诊断. 早期识别微妙的MRI发现,特别是在皮质骨髓结处,对于及时的NIID诊断和治疗至关重要.
科学领域:
- 神经学 神经学
- 遗传学 遗传学是一种遗传学.
- 放射学 放射学是一门学科.
背景情况:
- 神经内核包容性疾病 (NIID) 呈现出不同的临床症状.
- 了解类似中风的NIID情节的临床和成像特征是有限的,往往导致诊断延迟.
研究的目的:
- 描述NIID的临床和放射性特征,呈现出类似中风的情节.
- 突出诊断挑战和NIID作为中风的潜在误诊.
主要方法:
- 一个66岁妇女的案例研究,患有类似中风的NIID.
- 一个全面的文献综述NIID病例与中风类似的发病.
- NOTCH2NLC基因测试和皮肤病理诊断.
主要成果:
- 患者出现了头和语言障碍,最初怀疑是缺血性中风.
- 核磁共振扫描显示在皮质骨髓结处微妙的扩散限制,这是类似中风的NIID中常见的发现.
- 文献综述发现,平均发病和诊断年龄为~59岁和~64岁,常见症状包括言语和四肢问题.
- NOTCH2NLC基因测试证实了GGC重复扩张 (66-146次重复).
- 在接受审查的患者中,60.87%的患者实现了预发病的恢复.
结论:
- 与中风相似的NIID经常被误诊为中风,导致严重的诊断延迟.
- 微妙的扩散限制在MRI上皮膜结处是NIID的特征,不应被忽视.
- 通过基因检测和病理学及时诊断对于适当的管理至关重要.
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