Potes Tatiana, Galicchio Santiago, Rosso Bárbara, Besocke Gabriela, García María Del Carmen, Avalos Juan Carlos
Servicio de Neurología, Hospital Italiano Buenos Aires, Buenos Aires, Argentina.
Sanatorio de Niños, Rosario, Santa Fe, Argentina.
Medicina (B Aires). 2018;78(6):436-439.
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.
拉福拉病并不常见。然而，它是进行性肌阵挛癫痫最常见的病因之一。我们报告一例19岁女性病例，该患者无合并症，发育正常，8岁起病出现癫痫发作，15岁起出现进行性认知功能衰退。她因诊断为超级难治性癫痫持续状态入住我院。通过病理解剖确诊为拉福拉病，随后进行基因检测，报告显示EPM2A基因存在致病性变异，从而确诊。我们介绍了一种进行性肌阵挛癫痫的病因，其预后不佳，治疗以姑息措施为主，因此分析与其他疾病的鉴别诊断很重要，以便确定预后、提供更好的生活质量、充分的医疗护理并为家庭成员提供遗传咨询。
