Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): report of a sporadic case and review of the literature.

M. L. Lee*, W. T. Chaou, A. D. Yang, Y. J. Jong, J. L. Tsai, C. Y. Pang, Y. H. Wei

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

4 Scopus citations

Abstract

We studied a 5-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes that are characteristic of the MELAS syndrome. Results of biochemical, histopathological, and molecular genetic studies from the patient's tissue meet the criteria for diagnosis of mitochondrial disease. An A to G transition at the 3243th nucleotide position of mitochondrial DNA (mtDNA) was found in the blood cells and hair follicles, instead of in muscle, from the propositus. To the best of our knowledge, this is the first reported MELAS case associated with mtDNA mutation in blood cells and hair follicles, instead of in the target muscle tissue, that has ever been documented in Taiwan. Brain lesions demonstrated by angiography, computed tomography (CT) and magnetic resonance imaging (MRI) are discussed.

Original languageEnglish
Pages (from-to)148-156
Number of pages9
JournalZhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Volume35
Issue number2
StatePublished - 1994
Externally publishedYes

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