伴有癫痫的脆性X综合征家系1例
A fragile X syndrome family with epilepsy
黄健 1吴远霞 2范宽 2刘蕊 2张鹏举 2韩璐 2杨媛媛 2刘嘉鹏 2李世容 2胡晓2
作者信息
- 1. 遵义医科大学附属医院 神经内科(遵义 563000);贵州省人民医院 神经内科
- 2. 贵州省人民医院 神经内科
- 折叠
摘要
脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病.本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常.该对病例提示FXS临床表型具有多样性和异质性.
Abstract
Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.
关键词
脆性X综合征/FMR1基因/脆性X智力低下蛋白质/神经发育障碍/癫痫/遗传性疾病/异质性Key words
Fragile X syndrome/FMR1 gene/Fragile X mental retardation protein/Neurodevelopmental disor-der/Epilepsy/Genetic disease/Heterogeneity引用本文复制引用
基金项目
国家自然科学基金地区科学基金(82060228)
贵州省高层次人才创新创业择优资助项目([2021]05号)
贵州省科技厅支撑计划(黔科合支撑[2021]一般077)
贵州省中医药局中医药、民族医药科学技术研究课题(QZYY-2023-052)
贵州省卫生健康委科学技术基金(gzwkj2023-006)
贵阳市贵安新区科技人才项目(筑科合同[2024]2-29号)
出版年
2024
NETL
NSTL
万方数据