PDF(Pubmed)
Abstract：
Ring chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Recent studies support a possible role of the dopaminergic system in the epileptogenesis of this syndrome. We report the case of a 13-year-old female with mosaic r(20) who showed typical disease onset and evolution and a remarkable electroclinical improvement with zonisamide. Epilepsy related to r(20) is often medically intractable. When valproate and lamotrigine are not effective, zonisamide could be further investigated as a therapeutic option, since it acts as antifocal and it has a potential role in the prevention of dopamine depletion.
摘要：
环染色体20或r（20）综合征是一种罕见的染色体疾病，主要特征是儿童发作的耐药性癫痫，具有典型的脑电图检查结果，其次是轻度到重度认知行为下降。最近的研究支持多巴胺能系统在该综合征的癫痫发生中的可能作用。我们报告了一名13岁的女性，患有马赛克r（20），其表现出典型的疾病发作和演变以及唑尼沙胺的显着临床改善。与r（20）相关的癫痫通常在医学上难以治疗。当丙戊酸盐和拉莫三嗪无效时，唑尼沙胺可以作为一种治疗选择进一步研究，因为它具有抗病灶作用，并且在预防多巴胺消耗中具有潜在作用。
