叶酸代谢障碍呈现为光脊髓综合征
Sidharth Rao Errabelly1, Eeshaan Agrawal1, Prachi Mohapatra2
1All India Institute of Medical Sciences, New Delhi, Delhi, India.
Practical neurology
|January 6, 2026
概括
年轻成年人的光脊综合征可以模仿炎症性疾病,但可能源于遗传条件,如导致叶酸缺乏的MTHFR基因突变. 仅仅是对类固醇的反应性并不是一个确切的诊断指标.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 视脊神经综合征,影响年轻人的视神经和脊髓,通常归因于免疫媒介疾病.
- 诸如多发性硬化症和神经炎光学谱系障碍等疾病经常出现复发性缓解过程,并对皮质类固醇有反应.
研究的目的:
- 报告一种最初对类固醇有反应的视脊髓综合征病例,揭示了潜在的遗传原因.
- 要强调的是,类固醇反应不仅仅是炎症性脱髓化疾病的标志.
主要方法:
- 一个患有光脊综合征的年轻成年人的临床病例介绍.
- 基因分析以确定致病突变.
- 评估对治疗的反应,包括皮质类固醇和叶酸补充剂.
主要成果:
- 患者出现了视脊髓综合征和最初的类固醇反应.
- 鉴定了甲基网酸盐减少酶 (MTHFR) 基因的病原性突变,导致叶酸缺乏.
- 观察到的神经并发症和皮肤色素过多,这表明代谢病因.
结论:
- 光综合征可能有代谢起源,例如MTHFR基因突变和叶酸缺乏,而不仅仅是免疫介导的原因.
- 仅仅依赖于类固醇反应率可能导致误诊;代谢调查至关重要.
- 这一案例强调了在视脊髓综合征呈现时考虑遗传和代谢病因的重要性.
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