Mioclonic Epilepsy with Red Ribbed Fibers (Merrf): Report of a Case and Review in Literature
Journal Title: Archives in Neurology & Neuroscience (ANN) - Year 2018, Vol 1, Issue 1
Abstract
MERRF is a multiple system disorder characterized by myoclonia that is often the first symptom followed by generalized epilepsy, ataxia, weakness and dementia. The onset normally manifests in childhood, after normal early development. The clinical diagnosis of MERRF is based on the following four “canonical” traits: myoclonus, generalized epilepsy, ataxia and red-ripped fibers (RRF) in muscle biopsy. A 23-year-old female patient who began her illness at 19 years of age, previously healthy, first with generalized tonicclonic seizures that were difficult to control initially, since she currently had 2 medications; the following year he has generalized weakness, ataxic gait, weight gain, dysarthria and prostration in a wheelchair, with progressive and irreversible deterioration. Muscle biopsy is performed demonstrating red fibers torn through the Gomori trichrome technique. The electrocardiogram is normal.
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- EP ID EP587371
- DOI 10.33552/ANN.2018.01.000503
- Views 118
- Downloads 0
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