We describe a 31 year old man presenting since age 25 progressive dementia, cerebellar ataxia, recurrent tracheobronchitis, hearing loss and drug resistent epileptic seizures since age 25. At age 25 he presented several strokelike episodes followed by prolonged epileptic partial status involving the affected limbs and, at age 27, cyclic vomiting and muscular weakness. Repeated brain CT scan and NMR disclosed multiple bilateral temporal and occipital lesions and diffuse atrophy. Lactate assay at rest and after standardized muscle effort was 5 fold greater than controls. Muscular biopsy showed ragged red fibers and a defect of NADH dehydrogenase. The mitochondrial DNA study from muscle and blood confirmed the presence of the MELAS mutation at 3243 nucleotide. We added 150 mg ubidecarenonum per day to the preexistent antiepileptic therapy with significant reduction in seizure frequency but no improvement in the progressive dementia.
|Translated title of the contribution||MELAS: A case report|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1993|
ASJC Scopus subject areas
- Clinical Neurology