Children with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome：two cases report
10.3969/j.issn.1000-3606.2015.03.015
- VernacularTitle:儿童线粒体脑肌病伴高乳酸血症和卒中样发作综合征2例报告
- Author:
Zhihui TANG
;
Qiang LUO
- Publication Type:Journal Article
- Keywords:
mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes syndrome;
gene testing;
therapy
- From:
Journal of Clinical Pediatrics
2015;(3):258-263
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo discuss the clinical features, diagnosis and treatment of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in children.Methods The clinical features and treatment process of two children with MELAS were retrospectively analyzed.ResultsThe main clinical features of MELAS were stroke-like epi-sodes, seizure, visual anomaly and lactic acidosis. Cephalic MRI ifndings performed during episode periods were in accord with the typical radiographic features of MELAS. Gene testing on the two children and their mothers showed the point mutation of A3243G in mitochondrial genome. The symptoms were improved signiifcantly after energy supply and corticosteroid treatment. Conclusions MELAS syndrome is easy to be misdiagnosed due to the varied clinical features. The diagnosis depends on the musclebiopsy and gene testing. Corticosteroid therapy is effective for MELAS syndrome.
