Abstract

POTES, Tatiana et al. Epilepsia mioclónica progresiva secundaria a enfermedad por cuerpos de Lafora. Medicina (B. Aires) [online]. 2018, vol.78, n.6, pp.436-439. ISSN 0025-7680.

Lafora’s disease is infrequent. However, it is one of the most common causes of progressive myoclonus epilepsy. We present the case of a 19-year-old woman, without comorbidities and normal development that started at 8 years with seizures and that from 15 years, had progressive cognitive deterioration. She was admitted to our institution with a diagnosis of super refractory status epilepticus. The diagnosis of Lafora’s disease was made through pathological anatomy, later a genetic test was performed that reported a pathogenic variant of the EPM2A gene, confirming the diagnosis. We present a cause of progressive myoclonic epilepsy, with an ominous prognosis and a treatment oriented to palliative measures, so it is important to analyze the differential diagnoses with other entities, in order to establish a prognosis, offer better quality of life, adequate medical care and provide genetic counseling to family members.

Keywords : Status epilepticus; Progressive myoclonic epilepsy; Lafora’s disease.

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