[MELAS-Leigh superposition syndrome: a case report]

S Yang; C Sun; W H Zhu

doi:10.3760/cma.j.issn.0578-1426.2020.02.009

[MELAS-Leigh superposition syndrome: a case report]

Zhonghua Nei Ke Za Zhi. 2020 Feb 1;59(2):140-143. doi: 10.3760/cma.j.issn.0578-1426.2020.02.009.

[Article in Chinese]

Authors

S Yang¹, C Sun², W H Zhu²

Affiliations

¹ Department of Neurology, First People's Hospital of Changzhou (The Third Affiliated Hospital of Soochow University), Changzhou 213003, China.
² Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.

PMID: 32074688
DOI: 10.3760/cma.j.issn.0578-1426.2020.02.009

Abstract

报道1例由线粒体DNA（mtDNA）基因G13513A突变导致的MELAS-Leigh叠加综合征，并结合文献报道的8例MELAS-Leigh叠加综合征资料，对该病的临床、影像及基因特点进行总结。患者多在14岁前发病，相继表现出Leigh病和MELAS综合征的临床特征或者两种疾病特征交替出现；影像学可见累及基底节、脑干、小脑以及大脑皮层病灶；肌肉病理可见破碎红纤维和琥珀酸脱氢酶深染，致病基因多样化。.

Publication types

Case Reports

MeSH terms

Brain / metabolism
DNA, Mitochondrial / genetics
Humans
Leigh Disease / diagnosis*
Leigh Disease / genetics
MELAS Syndrome / diagnosis*
MELAS Syndrome / genetics
Mutation / genetics*

Substances

DNA, Mitochondrial