Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan; Division of Epilepsy Center, Tokushima University Hospital, Tokushima, Japan.
Brain Dev. 2020 Jun;42(6):473-476. doi: 10.1016/j.braindev.2020.03.003. Epub 2020 Apr 1.
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.
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.
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.
环状染色体 20 综合征是一种罕见的染色体疾病，其特征为难治性癫痫、智力障碍和行为问题。尽管有报道称抗癫痫药物（AEDs）对患者有治疗效果，但尚无研究报告显示左乙拉西坦（LCM）在该综合征患儿中的疗效。我们报告了一例 7 岁男孩，他患有该综合征，使用 LCM 治疗后，难治性癫痫和行为异常得到了显著改善。
该患者为 7 岁男孩，无癫痫的个人或家族病史。他出现癫痫发作，表现为运动停止和眼球转动，随后出现运动过度性癫痫发作，导致他发出奇怪的声音并紧紧抱住父母。癫痫发作持续不到一分钟，且频繁发作（每天发作超过 30 次），特别是在夜间。还出现了多动等行为异常。脑磁共振成像未发现结构异常，但间期脑电图（EEG）显示主要为额叶棘波和棘慢波，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，与间期 SPECT 相比。染色体检查后，我们诊断该患者患有环状染色体 20 综合征（4/30 嵌合体）。卡马西平无效，左乙拉西坦（LEV）使癫痫发作恶化。加用丙戊酸钠（VPA）和拉莫三嗪（LTG）治疗后，癫痫发作消失，脑电图结果也得到改善。患者的多动等行为障碍也得到改善，能够重返小学。
虽然 VPA 和 LTG 通常对环状染色体 20 综合征有效，但不能完全抑制癫痫发作。LCM 可被视为该综合征患者控制癫痫发作的有效选择。
