透性扩散性低度质瘤在青少年中的非典型表现:病例报告
Zoe Wolfenson1, Daniel Benavides1, Connor J Lewis2
1Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
BMC neurology
|July 2, 2025
概括
这一案例突出了罕见的儿童诊断成年型扩散性低度质瘤 (dLGG),表现出行为变化. 早期的MRI监测对于在儿童中识别DLGG至关重要,即使没有典型的神经症状.
科学领域:
- 儿科神经学 儿科神经学
- 神经瘤学神经瘤学
- 放射学 放射学是一门学科.
背景情况:
- 扩散性低度质瘤 (dLGG) 是一种罕见的,生长缓慢的脑瘤.
- dLGG症状可能包括发作,运动缺陷和行为变化.
- 这项研究详细介绍了一例独特的儿童成人类型DLGG病例,该病例在经过十年的监测后被诊断出来.
研究的目的:
- 在儿童患者中呈现一种罕见的成人类型DLGG病例.
- 强调DLGG具有异常症状的诊断挑战.
- 为了强调儿童脑瘤的长期MRI监测的重要性.
主要方法:
- 研究了一名13岁的男性,患有渐进式MRI异常和行为问题.
- 脑部活检显示了一种正规的IDH1突变.
- 实施了一种"观察和等待"的方法,定期进行MRI监测.
主要成果:
- 该患者在六年内呈现出渐进的透性瘤生长.
- 通过活检和基因测序证实了DLGG的诊断.
- 该病例表明,在确诊之前,瘤进展了十年.
结论:
- 仅仅是行为变化可以掩盖儿科患者的DLGG诊断.
- 在患有多焦点白质病变的儿科病例中,应考虑低度恶性瘤.
- 缺乏典型的神经症状并不排除dLGG.
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