A Case of Legius Syndrome Complicated with Epilepsy and Literature Review

Zhang Xuan; Ji Haonan; Gu Ruiyin; Li Bin; Zhou Hui

doi:10.13407/j.cnki.jpp.1672-108X.2023.10.011

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A Case of Legius Syndrome Complicated with Epilepsy and Literature Review

更新时间：2023-09-30

- A Case of Legius Syndrome Complicated with Epilepsy and Literature Review
- Vol. 29, Issue 10, Pages: 38-40(2023)
- 作者机构：
  
  南通大学附属医院,江苏,南通,226001
- 作者简介：
- 基金信息：
- DOI：10.13407/j.cnki.jpp.1672-108X.2023.10.011
  CLC：
- Published：2023，
  
  Published Online：10 October 2023，
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Zhang Xuan, Ji Haonan, Gu Ruiyin, et al. A Case of Legius Syndrome Complicated with Epilepsy and Literature Review. [J]. 29(10):38-40(2023)
DOI：

Zhang Xuan, Ji Haonan, Gu Ruiyin, et al. A Case of Legius Syndrome Complicated with Epilepsy and Literature Review. [J]. 29(10):38-40(2023) DOI： 10.13407/j.cnki.jpp.1672-108X.2023.10.011.

摘要

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。

Abstract

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.

关键词

Legius 综合征癫痫咖啡牛奶斑基因突变

Keywords

]Legius syndromeepilepsycafé-au-lait maculegene mutation

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