BACKGROUND Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory seizure, mental retardation, and behavioral problems. Although there are reports of the effective treatment of patients with antiepileptic drugs (AEDs), no study has reported the effects of lacosamide(LCM) in children with this syndrome. We report a 7-year-old boy with this syndrome whose refractory and behavioral abnormalities have been remarkably improved by treatment with LCM. CASE PRESENTATION The patient was a 7-year-old boy with no medical or family history of epilepsy. He developed epilepsy with cessation of movement and derivation of the eyes followed by hyperkinetic seizures that made him squeak strangely and cling to his parents. The seizures lasted for less than a minute and were frequent (they occurred more than 30 times a day), particularly at night. Behavioral abnormalities such as hyperactivity also presented. Brain magnetic resonance imaging revealed no structural abnormalities, but an interictal electroencephalogram (EEG) indicated spikes and waves in the frontal lobe dominantly, and ictal single-photon emission computed tomography (SPECT) revealed a blood flow increase in the bilateral orbital frontal area in comparison to interictal SPECT. After chromosome examination, we diagnosed the patient with ring chromosome 20 syndrome (4/30 mosaic). Carbamazepine was ineffective, and seizures were exacerbated with levetiracetam (LEV). LCM was added to the treatment regimen with valproic acid (VPA) and lamotrigine (LTG); consequently, the seizures disappeared, and EEG results also improved. The patient's behavioral disorders, such as hyperactivity, were improved, and he was able to return to elementary school. CONCLUSION Although VPA and LTG are generally effective for the treatment of ring chromosome 20 syndrome, they do not completely suppress seizures. LCM can be considered an effective option for seizure control in patients with this syndrome.

中文翻译：

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拉考沙胺改善环染色体20综合征患者癫痫

背景 20 号环染色体综合征是一种罕见的染色体疾病，其特征是难治性癫痫发作、智力低下和行为问题。虽然有报道称抗癫痫药（AEDs）可有效治疗患者，但尚无研究报告拉考沙胺（LCM）对患有该综合征的儿童的影响。我们报告了一名患有这种综合征的 7 岁男孩，其顽固性和行为异常通过 LCM 治疗得到显着改善。病例介绍 患者是一名 7 岁男孩，没有癫痫病史或家族史。他患上了癫痫症，运动停止和眼球运动停止，接着是多动性癫痫发作，这使他发出奇怪的尖叫声并紧紧抓住父母。癫痫发作持续不到一分钟，而且很频繁（每天发生 30 多次），特别是在晚上。还出现多动等行为异常。脑磁共振成像显示没有结构异常，但发作间期脑电图 (EEG) 显示额叶主要出现尖峰和波，而发作期单光子发射计算机断层扫描 (SPECT) 显示双侧眶额区血流量增加到间歇性SPECT。经染色体检查，我们诊断该患者为20号环染色体综合征（4/30镶嵌）。卡马西平无效，左乙拉西坦 (LEV) 会加剧癫痫发作。LCM加入丙戊酸（VPA）和拉莫三嗪（LTG）的治疗方案；因此，癫痫发作消失，脑电图结果也有所改善。患者的多动等行为障碍得到改善，他能够回到小学。结论 尽管 VPA 和 LTG 对环 20 号染色体综合征的治疗普遍有效，但它们并不能完全抑制癫痫发作。LCM 可被认为是控制该综合征患者癫痫发作的有效选择。