青少年发作的和与CAD缺陷相关的恶化:一个病例报告
Sebastián Silva1, Mónica Rosas2, Benjamín Guerra3
1Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile; Escuela de Medicina, Universidad San Sebastián, Sede Patagonia, Puerto Montt, Chile.
罕见的遗传性疾病 - - CAD缺陷 - - 可以在老年儿童和青少年中表现出来,出现严重的神经症状,如和状态. 早期诊断和尿液治疗对于管理这种可治疗的疾病至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 生物化学 生物化学
背景情况:
- CAD 缺陷是一种由 CAD 基因中的病原性变异引起的自体衰退性疾病,影响了 de novo 胺生物合成.
- 它呈现为发育性和性脑病,其特点是,状态 (SE),神经衰退和贫血.
研究的目的:
- 报告CAD缺陷与晚发性的病例.
- 审查有关CAD缺陷的现有文献.
- 强调在老年患者中考虑CAD缺陷的重要性,这些患者呈现出来源不明的SE.
主要方法:
- 一个已故的女性患者的病例报告,患有晚发性.
- 尸检后的整个外体组序列测定,以识别遗传变异.
- 对28例报告的CAD缺乏病例 (2015-2023) 的文献综述.
主要成果:
- 患者在14岁时出现了,随后出现了神经系统的快速恶化,耐火性SE和大脑缩.
- 整个外基因组测序揭示了CAD基因中的双基误解变异 (c.[2944G>A];[5366G>A]).
- 文献综述显示,发作通常从新生儿期到7岁之间,SE的患病率为46%.
结论:
- 在出现SE的老年人中,即使没有明确的病因,也应该怀疑CAD缺陷.
- 这一案例强调了CAD缺陷发病年龄的变化.
- 及时诊断和尿素治疗对于改善CAD缺乏症的结果至关重要.
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