MULTIPLE-SCLEROSIS AND MITOCHONDRIAL MYOPATHY - AN UNUSUAL COMBINATION OF DISEASES

A woman with definite multiple sclerosis (MS) and mitochondrial myopat hy is described. There were widespread white matter lesions on magneti c resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. Muscle biopsy showed ragged red fibres (RRFs ) and cytochrome c oxidase (CoX) deficiency. Southern blot analysis re vealed a large deletion of mitochondrial DNA (mtDNA). The patient may be affected by two unrelated diseases, MS and mitochondrial myopathy, but this combination has never previously been reported.