Miranda NG, Ortega PFEE

Language: Spanish
References: 6
Page: 243-245
PDF size: 85.62 Kb.

ABSTRACT

Introduction: Myoclonic epilepsy whit ragged red fibers (MERRF) is a multi-system disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness and dementia. The onset is usually manifested in childhood, after a normal early development. The clinical diagnosis of MERRF is based on the following four features “canonical” myoclonus epilepsy, ataxia and raggedred fibers on muscle biopsy. Case report: A female patient, 23 years old who started his condition to be 19 years old previously healthy, first with generalized tonic-clonic seizures are difficult to control early, as it currently is controlled by two medications and the electrocarfollowing year courses with generalized weakness, ataxia, weight gain, dysarthria, and prostration in a wheelchair, with progressive and irreversible deterioration. Muscle biopsy was performed showing ragged red fibers through the Gomori trichrome technique. Conclusions: MERRF syndrome should be diagnosed by correlation of its heterogeneous clinical and genetic features, in order to improve the quality of life of these patients.

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