말초신경병증이 동반된 Leigh 증후군 2례
Two Cases of Leigh Syndrome with Peripheral Neuropathy
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Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, encompasses a group of disorders involving mutations of either nuclear or mitochondrial DNA that result in enzymatic defects in respiratory chain complexes or in pyruvate dehydrogenase. The disease usually affects infants and children. The pathologic 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 reported in 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 clinical findings, brain MRI, MR spectroscopy, nerve conduction study, and blood chemistry. The second case, 2 year-old boy with respiratory failure, had characteristic brain MRI, nerve conduction study, and muscle biopsy findings consistent with LS. We reported these cases with a brief review of the related literatures.
Abstract
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, encompasses a group of disorders involving mutations of either nuclear or mitochondrial DNA that result in enzymatic defects in respiratory chain complexes or in pyruvate dehydrogenase. The disease usually affects infants and children. The pathologic 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 reported in 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 clinical findings, brain MRI, MR spectroscopy, nerve conduction study, and blood chemistry. The second case, 2 year-old boy with respiratory failure, had characteristic brain MRI, nerve conduction study, and muscle biopsy findings consistent with LS. We reported these cases with a brief review of the related literatures.
참고문헌 (11)
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