Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone.

Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T.

Department of Neurology, 
National Minamiokayama Hospital, Okayama, Japan.
J Neurol Sci 1989 May;90(3):263-71

ABSTRACT

Two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) in one family are reported.  Pathological examination of case 1 showed ragged-red fibers, with 7% of the fibers being unstained by cytochrome C oxidase stain, peripheral nerve damage, multiple areas of softening in the cerebrum and midbrain, and spongy changes in the cerebrum, optic nerve and pons.  Electron microscopic examination revealed abnormal accumulations of mitochondria in the skeletal muscle, smooth muscle and cardiac muscle. The activity of cytochrome C oxidase in the brain and liver showed a tendency to decrease.  In case 2 (maternal aunt of case 1), muscular weakness and peripheral nerve damage improved by treatment with coenzyme Q10.  By adding idebenone to the coenzyme Q10 therapy, the EEG and Wechsler's Adult Intelligence Scale (WAIS) improved.  Furthermore, in the cerebral spinal fluid (CSF), the protein, lactate, and pyruvate decreased, and the monoamines and monoamine metabolites increased.

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