晚期发病的李氏综合征与延长的胃肠道表现:一个罕见的病例报告
Zain Amar1, Helai Hussaini2, Meet Popatbhai Kachhadia3
1Internal Medicine, Faculty of Medicine and Allied Medical Sciences, Hyderabad, PAK.
Cureus
|June 5, 2024
概括
晚期发病的李氏综合征 (LS),一种罕见的神经退行性疾病,可以在成年时出现. 这一案例突出了一个42岁的LS女性,她通过胺治疗得到改善.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物化学 生化学
背景情况:
- 李氏综合征 (LS) 通常是一种婴儿发作的神经退行性疾病.
- 成人发病的LS很少见,存在诊断挑战.
- 线粒体功能障碍是LS的一个关键特征.
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