Parravicini Stefano, Pasca Ludovica, Zanaboni Martina Paola, Varesio Costanza, Rognone Elisa, Totaro Martina, Gana Simone, Rossi Elena, De Giorgis Valentina
Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.
Brain and Behaviour Department, University of Pavia, Pavia, Italy.
J Pediatr Genet. 2021 Apr 1;12(3):219-223. doi: 10.1055/s-0041-1726281. eCollection 2023 Sep.
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.
20号环状染色体或r(20)综合征是一种罕见的染色体疾病，主要特征为儿童期起病的耐药性癫痫，并伴有典型的脑电图表现，随后出现轻至重度的认知行为衰退。最近的研究支持多巴胺能系统在该综合征癫痫发生过程中可能发挥的作用。我们报告了一例13岁患有嵌合型r(20)的女性病例，该病例呈现出典型的疾病起病和进展过程，使用唑尼沙胺后有显著的电临床改善。与r(20)相关的癫痫通常药物治疗难以控制。当丙戊酸和拉莫三嗪无效时，唑尼沙胺可作为一种治疗选择作进一步研究，因为它具有抗痫灶作用，且在预防多巴胺耗竭方面有潜在作用。
