中国神经再生研究（英文版）2010，Vol.5Issue(21)：1673-1677,5.DOI:10.3969/j.issn.1673-5374.2010.21.013
Myopathological features in MELAS syndrome without significant changes in muscle biopsy pathology
Myopathological features in MELAS syndrome without significant changes in muscle biopsy pathology
Pu Fang 1Chengsi Wu 1Meihong Zhou 1Renshi Xu 1Xianhua Liu 1Caixia Wei1
作者信息
摘要
Abstract
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are common types of mitochondrial encephalomyopathy. The involved muscular pathology is characterized by typical changes of mitochondrial abnormalities. Gene screening has been the gold diagnostic standard for MELAS diagnosis. This study presents three primary MELAS patients, with an age of onset from 13 to 18 years, including one patient with seizure, and two with headache and vomiting.All patients had a family history of disease, with matermal inheritance. Cerebral magnetic resonance imaging revealed abnormally high signals in T2-weighted images: temporal lobe in three cases,occipital lobe in two cases, and parietal lobe in one case. Migrating stroke-like lesions were confirmed in one patient. Muscle biopsy revealed several strongly succinate dehydrogenase-reactive vessels scattered in muscle sections of three patients, but ragged-red fibers and cytochrome c oxidase-negative/dense (COX-/+) fibers were not observed. Mitochondrial DNA A3243G mutation was identified in all three cases. MELAS syndrome has obvious clinical heterogeneity, and muscle weakness was not prominent in some of the cases. Muscle pathological changes did not accompany ragged-red fibers or COX-/+ fibers, but succinate dehydrogenasereactive vessels are important for MELAS diagnosis.关键词
mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes syndrome/muscle biopsy/neuroimaging/pathologyKey words
mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes syndrome/muscle biopsy/neuroimaging/pathology分类
医药卫生引用本文复制引用
Pu Fang,Chengsi Wu,Meihong Zhou,Renshi Xu,Xianhua Liu,Caixia Wei..Myopathological features in MELAS syndrome without significant changes in muscle biopsy pathology[J].中国神经再生研究（英文版）,2010,5(21):1673-1677,5.
