Progressive myoclonic epilepsy secondary to Lafora's body disease
| Autor: | Tatiana Potes, Santiago Galicchio, Bárbara Rosso, Gabriela Besocke, María del Carmen García, Juan Carlos Avalos |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Medicina (Buenos Aires), Vol 78, Iss 6, Pp 436-439 (2018) |
| ISSN: | 1669-9106 0025-7680 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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