由于NDUFV1变异,在Leigh综合征中逐渐发生脊髓干扰
1Neurology & Neurophysiology Center, Postfach 20, 1180 Vienna, Austria.
Radiology case reports
|October 27, 2025
概括
由NDUFV1变体引起的李氏综合征 (LS) 可以影响脊髓,导致神经症状. 脊髓成像对于诊断NDUFV1相关的LS及其相关的感觉和运动缺陷至关重要.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 李氏综合征 (LS) 是婴儿和幼儿时期的一种严重的多系统性疾病.
- 在LS中脊髓参与,特别是由于NDUFV1变异,很少被记录.
- NDUFV1基因突变是线粒体疾病和LS的已知原因.
研究的目的:
- 报告一种罕见的利氏综合征病例,由于NDUFV1变异导致显著的脊髓干扰.
- 突出NDUFV1突变的表型变异性,包括脊髓表现.
- 强调脊髓成像在LS诊断工作中的重要性.
主要方法:
- 一个4个月大的女婴出现LS症状的案例报告.
- 临床评估,包括实验室检测 (乳酸性酸,热素,BNP) 和心脏评估 (心电图,心声回声图).
- 神经成像包括脑部MRI和脊髓MRI (T2,STIR,T1序列).
- 基因测试用于识别NDUFV1基因中的复合异合体变异体.
主要成果:
- 患者表现出严重的神经症状,乳酸性酸症,心脏功能障碍和肺高血压.
- 大脑MRI显示了特征性的LS病变,而脊柱MRI显示了T2/STIR超强度在状筋和后部/侧部灰质角.
- 在NDUFV1基因中,基因分析证实了复合异构菌变体 (c.1162+4A>C和c.1138G>C) 的存在.
- 脊髓病变在17天内进展.
结论:
- 在NDUFV1的突变可以表现为脊髓病理在利氏综合征.
- 临床表现可能包括感觉障碍,性和脊柱动力不良.
- 对于疑似NDUFV1相关的LS患者,建议对包括脊髓在内的综合神经影像进行检查.
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