儿童维生素缺乏:从临床和神经成像发现的教训
Gabrielle Dupuy1, Charles-Joris Roux2, Rémi Barrois3
1Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
概括
获得的维生素缺乏会导致可逆的神经症状. 通过临床,神经成像和实验室数据进行早期诊断对于及时治疗和预防不可逆转的并发症至关重要.
科学领域:
- 神经学 神经学
- 营养科学 营养科学
- 儿科 儿科 儿科
背景情况:
- 水溶性维生素是神经系统功能的重要辅酶.
- 获得的维生素缺乏,虽然可以治疗,但如果不治疗,可能会导致不可逆转的神经损伤.
- 早期识别和干预是管理这些情况的关键.
研究的目的:
- 为获得的维生素缺乏症提供临床,实验室和神经成像数据.
- 帮助早期诊断和及时补充维生素缺乏症.
- 为了区分维生素缺乏与遗传代谢障碍.
主要方法:
- 在Necker-Enfants-Malades医院 (1998年7月至2023年7月) 获得维生素缺乏症导致急性神经症状的患者的回顾性评估.
- 从Warehouse博士数据库中提取临床数据.
- 对神经成像,生化和电生理学数据的审查.
主要成果:
- 维生素B1缺乏:神经学症状 (眼睛运动,意识,动力不良) 和特定的MRI发现 (心室,周水管道,直肠,胸膜).
- 维生素B2缺乏:低血压,高乳糖血,高氨血,和一个类似于多重乙-CoA脱酶缺乏症的形状.
- 维生素B12缺乏:发育迟缓,自身感知性衰退,脑/脊髓MRI变化,甲基马龙酸升高,高血糖血.
- 维生素C缺乏:步态障碍和肌肉衰弱.
结论:
- 获得的维生素缺乏症可能会出现可逆症状,模仿遗传代谢障碍.
- 怀疑应该来自一致的临床表现,暗示性神经成像和生化证据.
- 对急性神经疾病的治疗应立即开始,甚至在最终的生化确认之前.
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