J Korean Assoc EMG Electrodiagn Med Search


J Korean Assoc EMG Electrodiagn Med 2008;10(1):81-85.
Published online June 1, 2008.
Two Cases of Leigh Syndrome with Peripheral Neuropathy
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, encompasses a group of disordersinvolving mutations of either nuclear or mitochondrial DNA that result in enzymatic defects in respiratorychain complexes or in pyruvate dehydrogenase. The disease usually affects infants and children. Thepathologic hallmarks of LS are bilateral, symmetric necrotizing lesions in the basing ganglia, thalamus,brainstem, and spinal cord. We report 2 cases of LS with peripheral neuropathy that have not been reportedin Korea. The first case, 7 year-old girl, was misdiagnosed as a athetoid type of cerebral palsy initially,but he has had progressive gait disturbance, dysphagia, and incontinence. We confirmed LS by clinicalfindings, brain MRI, MR spectroscopy, nerve conduction study, and blood chemistry. The second case, 2year-old boy with respiratory failure, had characteristic brain MRI, nerve conduction study, and musclebiopsy findings consistent with LS. We reported these cases with a brief review of the related literatures.
Key Words: Leigh syndrome, Peripheral neuropathy


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