Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh overlap syndrome caused by mutation of mitochondrial DNA G13513A
10.3760/cma.j.issn.1006-7876.2009.04.009
- VernacularTitle:线粒体DNA G13513A突变所致线粒体脑肌病伴高乳酸血症和脑卒中样发作/Leigh重叠综合征
- Author:
Manfu HAN
;
Runtao BAI
;
Hongye FENG
;
Weiyi TAO
;
Zhaoxia WANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
MELAS syndrome;
Leigh disease;
DNA,mitochondrial;
Mutation
- From:
Chinese Journal of Neurology
2009;42(4):248-252
- CountryChina
- Language:Chinese
-
Abstract:
Objective To describe the chnical, neuroimagine, pathological and genetic features in a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh overlap syndrome.Methods The ease was a 22-year-old woman with recurrent headache, loss of visual acuity and general seizures over 11 years.MRI demonstrated symmetrical high T2-weighted signals in occipital and parietal lobes, in the late stage of the disease, the above imagine changes on MRJ were also shown in the bilateral basal ganglion and brainstem.She died of status epilepticus at age of 22.Brain autopsy and mitochondrial DNA (mtDNA) analysis were performed in the patient.Results The main neuropathological findings were muhifocal and lamilar spongiform in the cortex of the whole brain, the basal ganglion and middle brain.Gliosis, macrophagie reaction and capillary endothelial proliferation were observed in these areas.All 6 layers of the cortex and subcortical white matter in occipital and parietal lobes were severely affected.GI3513A mutation was found in the gene of mitochondria encoded NADH dehydrogenase subunit 5 (MTNDS).Conclusions MELAS/Leigh overlap syndrome presents the symptoms predominantly affecting the cerebral cortex.Neuroimagines suggested that the lesion initially involves the cerebral cortex and in the late stage implicates the basal ganglion and the brainstem, possibly caused by pathological changes of spongiform with capillary proliferation in these areas.
