唑尼沙胺治疗20环染色体综合征1例电临床改善。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-09-01 DOI:10.1055/s-0041-1726281

Stefano Parravicini, Ludovica Pasca, Martina Paola Zanaboni, Costanza Varesio, Elisa Rognone, Martina Totaro, Simone Gana, Elena Rossi, Valentina De Giorgis

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引用次数: 0

摘要

环状染色体20或r(20)综合征是一种罕见的染色体疾病，主要特征为儿童期发病的耐药癫痫，伴有典型的脑电图表现，随后出现轻度至重度认知行为下降。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。我们报告一例13岁的女性与马赛克r(20)谁表现出典型的疾病的发病和演变和显著的电临床改善佐尼沙胺。与r(20)相关的癫痫通常是医学上难治性的。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行进一步研究，因为它具有抗局灶性作用，并且在预防多巴胺消耗方面具有潜在作用。

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Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report.

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.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.