Legius综合征合并癫痫1例并文献复习

A Case of Legius Syndrome Complicated with Epilepsy and Literature Review

目的:探讨并报告1例Legius综合征合并癫痫患者的临床特点、基因突变及诊治方法。方法:整理并分析1例Legius综合征合并癫痫患者的临床资料,并对Legius综合征进行文献复习。结果:先证者,女,首次就诊年龄6岁,主要症状为无热惊厥,为全面的强直性发作,发作前后有呕吐。颈部、前胸部、臀部、下肢多部位有大小不等的咖啡牛奶斑(>6枚),最大直径3 cm。脑电图示部分区域棘慢、多棘慢波发放,各区广泛慢波活动。基因检测示SPRED1基因c.7G>T(p.Glu3Ter)的杂合子突变,其父母没有发现该突变,为新发突变。结论:基因检测对于Legius综合征的早期诊断、遗传咨询、判断预后和制定随访治疗计划具有重要意义。

Objective:To explore and report the clinical characteristics,gene mutation,diagnosis and treatment methods of a case of Legius syndrome complicated with epilepsy.Methods:Clinical data of a child with Legius syndrome complicated with epilepsy were collected and analyzed,and literature review on Legius syndrome was conducted.Results:The proband,a female child,first presented at the age of 6 years with afebrile seizures characterized by generalized tonic-clonic episodes and vomiting before and after the seizures.Multiple café-au-lait macules of varying sizes,larger than 6 macules with a maximum diameter of 3 centimeters,were observed on the neck,anterior chest,buttocks and lower limbs.The electroencephalogram showed focal or multifocal spike and wave discharges,as well as generalized slow wave activity in various regions.Genetic testing revealed a heterozygous mutation c.7G>T(p.Glu3Ter)in SPRED1 gene,which was not found in the parents,indicating a de novo mutation.Conclusion:Genetic testing plays a significant role in the early diagnosis,genetic counseling and prognosis assessment of Legius syndrome,and the development of follow-up treatment regimen.