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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a progressive multisystem disorder that is intractable to various medicines. Recently, reports have shown sodium dichloroacetate (DCA) to be effective.1,2⇓
We examined a 16-year-old girl with MELAS, who had progressive anorexia and speech deterioration and responded to DCA treatment clinically and on neuroimaging. She was the second child of unrelated parents. Her mother had mild non-insulin-dependent diabetes mellitus and deafness. The patient was well except for short stature. She developed stroke-like episodes at age 7 years, and her condition gradually deteriorated. At age 11, she was diagnosed with MELAS based on high lactate levels in blood and CSF and ragged-red fibers in muscle biopsy. Genetic study revealed an A-to-G transition at nucleotide 3,243 in the mitochondrial DNA in her and her mother’s leukocytes. IV cytochrome c was not effective in improving the clinical symptoms.
At age 15, the patient’s mental condition deteriorated and …
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