| 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。 |
| 关键词: Legius 综合征 癫痫 咖啡牛奶斑 基因突变 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2023.10.011 |
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| 基金项目: |
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| A Case of Legius Syndrome Complicated with Epilepsy and Literature Review |
| Zhang Xuan, Ji Haonan, Gu Ruiyin, Li Bin, Zhou Hui |
| (Affiliated Hospital of Nantong University, Jiangsu Nantong 226001, China) |
| 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. |
| Key words: ]Legius syndrome epilepsy café-au-lait macule gene mutation |
