作为晚发起的克拉贝病的初始症状的泛性强力克隆性发作:一个病例报告
Sifen Xie1, Zuying Kuang1, Mengqiu Pan1
1Department of Neurology, Guangdong Sanjiu Brain Hospital, Guangzhou, China.
Frontiers in behavioral neuroscience
|November 24, 2025
概括
成年开始的克拉贝病 (KD) 是一种神经退行性疾病,可以出现发作而不是步行问题. 这一案例凸显了在诊断中考虑KD的重要性.
科学领域:
- 神经退行性疾病 神经退行性疾病
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 克拉贝病 (KD),或球状细胞白血病,是一种罕见的自体逆向性神经退行性疾病.
- 在GALC基因中的致病变体导致KD,婴儿发病在全球范围内很常见.
- 成人发病的KD经常呈现出性帕帕雷西斯,特别是在东亚人群中.
研究的目的:
- 报告一个独特的成年开始的Krabbe疾病病例.
- 扩大对成人发病KD临床谱的理解.
- 强调在成人的差异诊断中考虑KD的重要性.
主要方法:
- 一个28岁的男性患有神经症状的病例报告.
- 大脑MRI评估白质病变和皮质干涉.
- 对GALC变异的基因测试和对银河大脑蛋白酶活性的酶测试.
主要成果:
- 患者出现了泛性强度-克隆性发作,这对于成人发病的KD是不典型的.
- 大脑MRI显示了对称的白质病变和早期皮质参与.
- 证实了复合异性GALC变体 (c.908C>T/p.Ser303Phe和c.136G>T/p.Asp46Tyr) 和低酶活性.
结论:
- 这个病例扩大了已知的成年期KD的临床表现.
- 可以是成年期KD的初始表现.
- 应该考虑KD在成年人的差异诊断与渐进的神经症状.
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