{"title":"癫痫与 MELAS 综合征:文献综述与临床观察","authors":"А. М. Teplysheva, М. А. Glazova, R. N. Konovalov","doi":"10.17749/2077-8333/epi.par.con.2023.172","DOIUrl":null,"url":null,"abstract":"MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene. A common clinical manifestation of the syndrome is presented by epileptic seizures (ES) characterized by phenotypic polymorphism and resistance to antiepileptic therapy. Diagnosis and treatment of epilepsy in patients with MELAS syndrome often poses difficulties. We present a clinical case of adult patient with MELAS syndrome with identified A3243G mutation and epilepsy. The disease course developed to severe cognitive impairment. The first focal ES occurred during stroke-like episode. Further seizures were observed spontaneously, with high frequency, often manifested as a series. Focal ES often had blurred polymorphic manifestations. The choice of drug therapy took into account the side effects of antiepileptic drugs (AEDs) including potentially mitochondria-related negative effects. While diagnosing EP in MELAS syndrome, it should be considered that seizures often occur during stroke-like episodes and may have blurred polymorphic clinical manifestations. Cognitive impairment in patients complicates ES detection. First-line drugs should be presented by AEDs with low mitochondrial toxicity.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"15 2","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Epilepsy and MELAS syndrome: literature review and clinical observation\",\"authors\":\"А. М. Teplysheva, М. А. Glazova, R. N. Konovalov\",\"doi\":\"10.17749/2077-8333/epi.par.con.2023.172\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene. A common clinical manifestation of the syndrome is presented by epileptic seizures (ES) characterized by phenotypic polymorphism and resistance to antiepileptic therapy. Diagnosis and treatment of epilepsy in patients with MELAS syndrome often poses difficulties. We present a clinical case of adult patient with MELAS syndrome with identified A3243G mutation and epilepsy. The disease course developed to severe cognitive impairment. The first focal ES occurred during stroke-like episode. Further seizures were observed spontaneously, with high frequency, often manifested as a series. Focal ES often had blurred polymorphic manifestations. The choice of drug therapy took into account the side effects of antiepileptic drugs (AEDs) including potentially mitochondria-related negative effects. While diagnosing EP in MELAS syndrome, it should be considered that seizures often occur during stroke-like episodes and may have blurred polymorphic clinical manifestations. Cognitive impairment in patients complicates ES detection. First-line drugs should be presented by AEDs with low mitochondrial toxicity.\",\"PeriodicalId\":52318,\"journal\":{\"name\":\"Epilepsy and Paroxysmal Conditions\",\"volume\":\"15 2\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsy and Paroxysmal Conditions\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17749/2077-8333/epi.par.con.2023.172\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Paroxysmal Conditions","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17749/2077-8333/epi.par.con.2023.172","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
MELAS 综合征(线粒体脑肌病、乳酸酸中毒和中风样发作)属于线粒体疾病。大多数 MELAS 综合征病例与 MTTL1 基因中的 A3243G 突变有关。该综合征的常见临床表现为癫痫发作(ES),其特点是表型多态性和对抗癫痫治疗的耐受性。MELAS 综合征患者癫痫的诊断和治疗往往存在困难。我们在临床上发现了一例MELAS综合征成年患者,其A3243G基因突变并伴有癫痫。患者的病程发展为严重的认知障碍。第一次局灶性 ES 发生在中风样发作期间。以后的癫痫发作是自发的,频率很高,通常表现为一系列发作。局灶性 ES 常有模糊的多形性表现。药物治疗的选择考虑了抗癫痫药物(AEDs)的副作用,包括可能与线粒体有关的负面影响。在诊断MELAS综合征的EP时,应考虑到癫痫发作常常发生在中风样发作期间,并可能有模糊的多态临床表现。患者的认知障碍会使 ES 的检测复杂化。一线药物应以线粒体毒性低的 AEDs 为主。
Epilepsy and MELAS syndrome: literature review and clinical observation
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene. A common clinical manifestation of the syndrome is presented by epileptic seizures (ES) characterized by phenotypic polymorphism and resistance to antiepileptic therapy. Diagnosis and treatment of epilepsy in patients with MELAS syndrome often poses difficulties. We present a clinical case of adult patient with MELAS syndrome with identified A3243G mutation and epilepsy. The disease course developed to severe cognitive impairment. The first focal ES occurred during stroke-like episode. Further seizures were observed spontaneously, with high frequency, often manifested as a series. Focal ES often had blurred polymorphic manifestations. The choice of drug therapy took into account the side effects of antiepileptic drugs (AEDs) including potentially mitochondria-related negative effects. While diagnosing EP in MELAS syndrome, it should be considered that seizures often occur during stroke-like episodes and may have blurred polymorphic clinical manifestations. Cognitive impairment in patients complicates ES detection. First-line drugs should be presented by AEDs with low mitochondrial toxicity.