[Analysis of MT-ND gene variation in two children with Leigh disease who presented long segment spinal cord magnetic resonance imaging abnormalities]

Authors :: H X, Zhu
W X, Chen
L F, Chen
C, Hou
W X, Wu
X Y, Wang
X J, Li
Source :: Zhonghua er ke za zhi = Chinese journal of pediatrics. 59(2)
Publication Year :: 2021
Abstract: 2例长节段脊髓磁共振成像信号改变的Leigh病患儿分别为3岁男性和8岁女性。分别于2018和2020年就诊于广州市妇女儿童医疗中心。主诉分别为“左下肢乏力半年余，右下肢乏力2个月”和“双下肢乏力5个月余伴排尿困难1周”。2例患儿分别存在MT-ND4基因m.11470AC变异和MT-ND5基因m.13514AG变异。经线粒体鸡尾酒疗法治疗后，2例患儿病情改善。.

Subjects :: Spinal Cord
Brain
Humans
Leigh Disease
Child
Nervous System Malformations
Magnetic Resonance Imaging

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