一个没有侧侧脑膜细胞的侧侧脑膜细胞综合征病例
Derek Rubadeux1,2, Joshua W Owens2,3,4, Amelle Shillington2,4
1University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Molecular syndromology
|August 9, 2024
概括
侧侧脑膜细胞综合征 (LMS),由NOTCH3变体引起,通常涉及多个脑膜细胞. 这种病例突出了一个缺乏脑膜细胞的LMS患者,扩大了这种罕见遗传疾病已知的临床表现.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 侧侧脑膜炎综合征 (LMS),或莱曼综合征,与NOTCH3基因的第33个外基因的致病变体有关.
- 这些变异破坏了PEST域,增强了NOTCH3的信号传递,并导致特征性症状,如发育迟缓和异形特征.
研究的目的:
- 报告一个8岁男孩患有LMS的病例,该病例的确诊病原型是NOTCH3.
- 描述临床表现,包括缺少侧侧脑膜,扩大已知的LMS表型.
主要方法:
- 基因检测发现了33号外构体中的一种致病性NOTCH3 c.6663C>G (p.Y2221*) 变体.
- 进行了临床评估和脊柱MRI,以评估患者的病情.
主要成果:
- 这位患者出现了自闭症,食困难,发育迟缓,智力障碍和自我伤害行为.
- 尽管存在NOTCH3变异,但该患者缺乏侧侧脑膜,尽管注意到一个神圣外侧状囊.
- 与LMS共享的特征包括异形面部特征,G管依赖,以及无法壮成长.
结论:
- 这种病例扩大了横向脑膜炎综合征的表型谱.
- 在基因确诊的LMS病例中缺少侧侧脑膜,这挑战了以前的诊断标准.
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