期刊
BRAIN & DEVELOPMENT
卷 35, 期 6, 页码 582-585出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2012.08.006
关键词
Leigh syndrome; MERRF; m.8344A > G
资金
- Grants-in-Aid for Scientific Research [23390275] Funding Source: KAKEN
We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset Leigh syndrome (LS) when he contracted pneumonia at 6 years. He developed bulbar palsy and deep coma. MRI demonstrated lesions in the brainstem, basal ganglia, and cerebral cortex. Three similar cases have been reported; two carried the almost-homoplasmic m.8344A>G mutation in muscle tissue. These suggested that almost homoplastic m.8344A>G mutation developed clinical phenotype of MERRF in the early stage and late-onset Leigh syndrome in the late course of the disease. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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