进行性肌阵挛性癫痫(PME)是一组以进行性肌阵挛性为特征的罕见疾病,认知障碍,共济失调,和其他神经缺陷。PME具有较高的遗传异质性,据报道,超过40个基因与这种疾病相关。SEMA6B编码信号蛋白家族的成员,并于2020年首次报道引起PME。在这里,我们介绍了一例罕见的PME病例,原因是一名健康的非血缘关系的中国父母所生的6岁男孩发生了一种新型的SEMA6B基因突变.他的发展里程碑被推迟了,他在3岁零11个月大的时候出现了反复发作的无症状性癫痫和肌阵挛性癫痫,但没有发烧。他反复出现肌阵挛性癫痫,非惊厥性癫痫持续状态(NCSE),失超性癫痫发作,以及过去两年中的非典型失神癫痫发作。在发病后的不同时间点,丙戊酸,左乙拉西坦,吡拉西坦,和clobazam用于控制顽固性癫痫发作。值得注意的是,NCSE通过吡拉西坦与氯巴赞和丙戊酸的组合来控制,而不是静脉输注咪达唑仑和苯巴比妥。由于迄今报告的病例数量有限,我们病例的临床描述有助于更好地理解与PME相关的基因型-表型相关性,并表明吡拉西坦可能对SEMA6B相关PME患者的NCSE有效.
Progressive myoclonic epilepsy (PME) is a group of rare diseases characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME has high genetic heterogeneity, and more than 40 genes are reportedly associated with this disorder. SEMA6B encodes a member of the semaphorin family and was first reported to cause PME in 2020. Herein, we present a rare case of PME due to a novel SEMA6B gene mutation in a 6-year-old boy born to healthy non-consanguineous Chinese parents. His developmental milestones were delayed, and he developed recurrent atonic seizures and myoclonic seizures without fever at 3 years and 11 months of age. He experienced recurrent myoclonic seizures, non-convulsive status epilepticus (NCSE), atonic seizures, and atypical absence seizures during the last 2 years. At different time points since onset, valproic acid, levetiracetam, piracetam, and clobazam were used to control the intractable seizures. Notably, NCSE was controlled by a combination of piracetam with clobazam and valproic acid instead of intravenous infusion of midazolam and phenobarbital. Due to the limited number of cases reported to date, the clinical description of our case provides a better understanding of the genotype-phenotype correlations associated with PME and indicate that piracetam may be effective against NCSE in patients with SEMA6B-related PME.