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KMID : 0391519950030010043
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Journal of the Korean Child Neurology Society
1995 Volume.3 No. 1 p.43 ~ p.50
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Mitochondrial myopathy, Enephalopathy, Lactic acidosis, and Stoke-likepisodes(MELAS) syndrome confirmed by molecular genetic analysis of mtDNA
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차병호
이준수/고창준/이진성/김태승/선우일남
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Abstract
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We performed the molecular genetic analysis of mitochodrial DNA(mt DNA) in two MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, andtroke-like episodes) patients who were clinically defined and as well as their family members, and
confirmed
the diagnosis of MELAS. Two patients had the following features; normal early development, recurrent convulsions, cortical blindness and one patient had deterioration of intellectural ability. Brain imaging studies(brain C-T and MRI) of both
patients
showed progressive cerebral infarction, especially temporal and occipital area. Biochemical tests showed high levels of lactate and pyruvate in the blood. Muscle biopsy manifested ragged-red fibers in one patient and the other was not. Molecular
genetic
analysis of both patients and elder brother of one patient revealed substitution of an A-to-G at nucleotide position 3243 of their mtDNA in a heteroplasmic fraction. We conclude that the mitochondrial DNA analysis is essential to diagnosis and
differentiate MELAS syndrome from other mitochondrial disorders.
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KEYWORD
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