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

H X Zhu; W X Chen; L F Chen; C Hou; W X Wu; X Y Wang; X J Li

doi:10.3760/cma.j.cn112140-20200919-00890

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

Zhonghua Er Ke Za Zhi. 2021 Feb 2;59(2):136-138. doi: 10.3760/cma.j.cn112140-20200919-00890.

[Article in Chinese]

Authors

H X Zhu¹, W X Chen¹, L F Chen¹, C Hou¹, W X Wu¹, X Y Wang¹, X J Li¹

Affiliation

¹ Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou 510120, China.

PMID: 33548962
DOI: 10.3760/cma.j.cn112140-20200919-00890

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.11470A>C变异和MT-ND5基因m.13514A>G变异。经线粒体鸡尾酒疗法治疗后，2例患儿病情改善。.

MeSH terms

Brain / diagnostic imaging
Child
Humans
Leigh Disease* / diagnostic imaging
Leigh Disease* / genetics
Magnetic Resonance Imaging
Nervous System Malformations*
Spinal Cord