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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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Česky / Czech version | Čes. a slov. Neurol. Neurochir., 63/96, 2000, No. 3, p. 180–184. |
MELAS Syndrome – Case-report Hadač J., Hněvsová P., Zeman J. 1 , Konrádová V. 1 , Hansíková H. 1 , Richterová I. 1 , Oddělení dětské neurologie, FTN, Praha 1 Klinika dětského a dorostového lékařství a Laboratoř pro výzkum mitochondriálních onemocnění, |
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Summary: The authors present a case-report of the MELAS syndrome in a 20-year-old woman. Suspicion that this
syndrome is involved was aroused besides the typical clinical picture also by the finding of laterally
changing ischaemic lesions, manifested in particular in the area of the lobes and apparent during
repeated examinations by magnetic resonance. The diagnosis was confirmed by molecular genetic
examination which provided evidence of the presence of heteroplasmic point mutation of the type 3243
AG in the gene tRNA leu of mitochondrial DNA in muscle tissue and blood.
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