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Objective: To investigate the value of functional magnetic resonance imaging (MRI) in sequential evaluation of patients with Leigh syndrome., Methods: Two patients with Leigh syndrome underwent diffusion weighted imaging (DWI), perfusion weighted imaging (PWI) and proton magnetic resonance spectroscopy ((1)H-MRS)., Results: The brain lesions showed hyperintensity on DWI, lactate doublet peak on MRS and hyperperfusion in the patients at baseline, and maintained a hyperintensity on DWI and hyperperfusion in the absence of lactate doublet peak on MRS at follow-up 1 year later. DWI still revealed persistent hyperintensity in the brain lesions in one patient 2 years later., Conclusion: Functional MRI can sensitively highlight the characteristics of brain lesions in patients with Leigh syndrome, and can therefore be used to evaluate the sequential changes of the brain lesions.

Objective: To report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA)., Methods: The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA., Results: Failure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami. The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5*13513 G to A was identified in the LS family., Conclusion: Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.