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Abstract：
BACKGROUND: Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations. It leads to neurodevelopmental delays and motor, behavioral, and cognitive impairments, with a high mortality rate. Treatment options include sodium valproate, clobazam, and newer agents such as cannabidiol and fenfluramine. Zonisamide, which is used in some cases, can cause hyperthermia and oligohydrosis. Herein, we present a case of a patient with Dravet syndrome whose seizures were controlled by treating infections and switching from zonisamide to perampanel.
METHODS: A 24-year-old Japanese man with Dravet syndrome presented to our department with aspiration pneumonia. The patient had been treated with valproate, sodium bromide, and zonisamide for a long time. His seizures were triggered by hyperthermia. The patient was experiencing a sustained pattern of hyperthermia caused by infection, zonisamide, and persistent convulsions, which caused a vicious cycle of further seizures. In this case, the control of infection and switching from zonisamide to perampanel improved seizure frequency.
CONCLUSIONS: Dravet syndrome usually begins with generalized clonic seizures in its infancy because of fever and progresses to various seizure types, often triggered by fever or seizure-induced heat due to mutations in the SCN1A gene that increases neuronal excitability. Seizures usually diminish with age, but the heat sensitivity remains. In this case, seizures were increased by repeated infections, and hyperthermia was induced by zonisamide, resulting in status epilepticus. Perampanel, an aminomethylphosphonic acid receptor antagonist, decreased seizures but caused psychiatric symptoms. It was effective in suppressing seizures of Dravet syndrome in this patient.
METHODS: A 24-year-old Japanese man with Dravet syndrome presented to our department with aspiration pneumonia. The patient had been treated with valproate, sodium bromide, and zonisamide for a long time. His seizures were triggered by hyperthermia. The patient was experiencing a sustained pattern of hyperthermia caused by infection, zonisamide, and persistent convulsions, which caused a vicious cycle of further seizures. In this case, the control of infection and switching from zonisamide to perampanel improved seizure frequency.
CONCLUSIONS: Dravet syndrome usually begins with generalized clonic seizures in its infancy because of fever and progresses to various seizure types, often triggered by fever or seizure-induced heat due to mutations in the SCN1A gene that increases neuronal excitability. Seizures usually diminish with age, but the heat sensitivity remains. In this case, seizures were increased by repeated infections, and hyperthermia was induced by zonisamide, resulting in status epilepticus. Perampanel, an aminomethylphosphonic acid receptor antagonist, decreased seizures but caused psychiatric symptoms. It was effective in suppressing seizures of Dravet syndrome in this patient.
摘要：
背景：Dravet综合征是一种以抗药性癫痫发作和认知功能障碍为特征的严重癫痫疾病，常引起SCN1A基因突变。它导致神经发育迟缓和运动，行为，和认知障碍，死亡率很高。治疗选择包括丙戊酸钠，Clobazam,和较新的药物，如大麻二酚和芬氟拉明。唑尼沙胺，在某些情况下使用，会导致高热和少氢化。在这里，我们介绍了一例Dravet综合征患者,其癫痫发作通过治疗感染和从唑尼沙胺转换为perampanel来控制.
方法：一名24岁的日本男子患有Dravet综合征，因吸入性肺炎就诊。患者接受了丙戊酸盐治疗，溴化钠,和唑尼沙胺很长一段时间。他的癫痫发作是由高热引起的。患者正在经历由感染引起的持续高温模式，唑尼沙胺，持续的抽搐,导致了进一步癫痫发作的恶性循环。在这种情况下,控制感染和从唑尼沙胺转换为潘帕奈尔改善了癫痫发作频率。
结论：Dravet综合征通常开始于婴儿期由于发热引起的全身性阵挛性癫痫发作，并发展为各种癫痫发作类型，通常由发热或癫痫引起的热引起的SCN1A基因突变，增加神经元兴奋性。癫痫发作通常随着年龄的增长而减少，但热敏感性仍然存在。在这种情况下,癫痫发作因反复感染而增加，高热是由唑尼沙胺引起的，导致癫痫持续状态.Perampanel,氨甲基膦酸受体拮抗剂，癫痫发作减少，但引起精神症状。有效抑制该患者的Dravet综合征发作。
方法：一名24岁的日本男子患有Dravet综合征，因吸入性肺炎就诊。患者接受了丙戊酸盐治疗，溴化钠,和唑尼沙胺很长一段时间。他的癫痫发作是由高热引起的。患者正在经历由感染引起的持续高温模式，唑尼沙胺，持续的抽搐,导致了进一步癫痫发作的恶性循环。在这种情况下,控制感染和从唑尼沙胺转换为潘帕奈尔改善了癫痫发作频率。
结论：Dravet综合征通常开始于婴儿期由于发热引起的全身性阵挛性癫痫发作，并发展为各种癫痫发作类型，通常由发热或癫痫引起的热引起的SCN1A基因突变，增加神经元兴奋性。癫痫发作通常随着年龄的增长而减少，但热敏感性仍然存在。在这种情况下,癫痫发作因反复感染而增加，高热是由唑尼沙胺引起的，导致癫痫持续状态.Perampanel,氨甲基膦酸受体拮抗剂，癫痫发作减少，但引起精神症状。有效抑制该患者的Dravet综合征发作。
