Carina Büren , Marcel Alexander Kamp , Christopher Munoz-Bendix , Hans-Jakob Steiger , Joachim Windolf , Maxine Dibué-Adjei
{"title":"高温、癫痫发作和离子通道功能障碍是否会导致SCN1A突变患者致死性发作后脑水肿?","authors":"Carina Büren , Marcel Alexander Kamp , Christopher Munoz-Bendix , Hans-Jakob Steiger , Joachim Windolf , Maxine Dibué-Adjei","doi":"10.1016/j.ebcr.2017.12.003","DOIUrl":null,"url":null,"abstract":"<div><p>A 21-year-old male with an SCN1A mutation died of cerebral herniation 3<!--> <!-->h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported raising the question whether sodium channel dysfunction may contribute to cerebral edema and thereby contribute to the increased premature mortality in Dravet Syndrome. We report on our patient and discuss whether the combination of hyperthermia and ion channel dysfunction may not only trigger seizures but also a fatal pathophysiological cascade of cerebral edema and herniation leading to cardiorespiratory collapse.</p></div>","PeriodicalId":56365,"journal":{"name":"Epilepsy and Behavior Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ebcr.2017.12.003","citationCount":"3","resultStr":"{\"title\":\"Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?\",\"authors\":\"Carina Büren , Marcel Alexander Kamp , Christopher Munoz-Bendix , Hans-Jakob Steiger , Joachim Windolf , Maxine Dibué-Adjei\",\"doi\":\"10.1016/j.ebcr.2017.12.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>A 21-year-old male with an SCN1A mutation died of cerebral herniation 3<!--> <!-->h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported raising the question whether sodium channel dysfunction may contribute to cerebral edema and thereby contribute to the increased premature mortality in Dravet Syndrome. We report on our patient and discuss whether the combination of hyperthermia and ion channel dysfunction may not only trigger seizures but also a fatal pathophysiological cascade of cerebral edema and herniation leading to cardiorespiratory collapse.</p></div>\",\"PeriodicalId\":56365,\"journal\":{\"name\":\"Epilepsy and Behavior Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.ebcr.2017.12.003\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsy and Behavior Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2213323217301160\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Behavior Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2213323217301160","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?
A 21-year-old male with an SCN1A mutation died of cerebral herniation 3 h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported raising the question whether sodium channel dysfunction may contribute to cerebral edema and thereby contribute to the increased premature mortality in Dravet Syndrome. We report on our patient and discuss whether the combination of hyperthermia and ion channel dysfunction may not only trigger seizures but also a fatal pathophysiological cascade of cerebral edema and herniation leading to cardiorespiratory collapse.