在患有CADASIL的年轻患者中同时出现视觉功能障碍和脑梗塞:一个病例报告
Guanlu Liang1, Jiehui Xu1, Zhenyu Wu1
1Department of Ophthalmology, Zhejiang Hospital, Hangzhou, Zhejiang, China.
Frontiers in medicine
|February 11, 2026
概括
大脑自体主导动脉病变与皮层下心脏病发作和白脑病变 (CADASIL) 可以出现急性视力丧失和脑梗塞. 在一个年轻的男性中,这种罕见的呈现突显了眼球血液动力学与遗传小血管疾病之间的联系.
科学领域:
- 神经学 神经学
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
背景情况:
- 大脑自体主导动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 是一种与NOTCH3基因突变相关的遗传性小动脉病.
- 急性视力丧失是典型的CADASIL表型的一个不常见的表现.
研究的目的:
- 报告一个罕见的CADASIL病例,在一个年轻的男性中同时呈现视觉功能障碍和脑梗塞.
- 探索眼球血液动力学与遗传性脑小血管疾病之间的关系.
主要方法:
- 一个年轻的男性患者的病例报告.
- 磁共振成像 (MRI) 用于确认脑梗塞.
- 视觉功能障碍,视神经和视网膜缺血的临床评估.
主要成果:
- 患者同时出现了急性视力丧失和确诊的脑梗塞.
- 视觉症状归因于视神经和视网膜缺血症.
- 这一案例表明CADASIL和眼部缺血事件之间存在潜在的联系.
结论:
- 在没有风险因素的年轻患者中,非动脉炎前部缺血性视觉神经病变 (NAION) 和视网膜输液不足需要对二次原因进行调查,如CADASIL.
- 这一案例扩大了已知的CADASIL临床范围,强调了在影响大脑和眼睛的不明原因缺血事件中考虑遗传小血管疾病的重要性.
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