白细胞大脑病变,脑和囊 (LCC):两个独特的病例.
Julia Grafstein1, Yuka Aoyama1, Rena Godfrey1
1Undiagnosed Diseases Program, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892, United States.
Rare (Amsterdam, Netherlands)
|November 28, 2025
概括
带有脑和囊 (LCC) 的白血脑病是一种罕见的微血管病,与SNORD118基因变异有关. 这项研究突出了诊断方面的挑战,并扩大了对LCC的理解.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 带有脑和囊 (LCC) 的白细胞脑膜病变,或拉布伦综合征,是一种罕见的脑微血管病变.
- 它是由SNORD118基因中的双变异引起的,SNORD118基因对于核糖体生物发生是必不可少的.
研究的目的:
- 为了呈现LCC病例,需要复杂的诊断旅程.
- 扩大已知的SNORD118相关LCC的临床和成像谱.
- 突出诊断挑战和非编码RNA分析的重要性.
主要方法:
- 两个患有LCC的个体的临床病例介绍.
- 详细的神经成像分析 (白脑病,化,囊).
- 基因分析证实了复合异质合体SNORD118变种,包括一个非编码的变化.
主要成果:
- 病例呈现出延长的诊断轨迹和最初的错误诊断.
- 已证实复合异构性SNORD118变种,包括一种罕见的非编码变种.
- 神经成像显示了广泛的异常,与可变的临床严重程度形成鲜明对比.
结论:
- 与SNORD118相关的LCC表现出显著的表型变异性和诊断挑战.
- 非编码区域的不完整的测序覆盖范围可能会阻碍变种检测.
- 提高对非编码RNA的认识和改善对其质疑对于准确的LCC诊断至关重要.
关键词:
标签: 标签: 标签: 标签囊 囊是一种囊.在 LCC LCC 中.拉布伦综合症是什么意思脑白细胞病变 (Leukoencephalopathy) 是一种脑白细胞病变.在SNORD118中使用.更多相关视频
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