儿童PRRT2基因相关难治性癫(癇)(附1例报告及文献复习)
PRRT2 Gene-associated Refractory Epilepsy in Children(A Case Report and Literature Review)
武银银 1汤继宏 1张利亚 1周文杰 1杨乐天 1徐欢 1戈东辉 1王莉1
作者信息
- 1. 苏州大学附属儿童医院神经内科,苏州 215025
- 折叠
摘要
目的 总结儿童PRRT2基因相关难治性癫(癎)临床特征及治疗.方法 回顾性分析1例PRRT2基因相关难治性癫(癎)患儿临床资料,并结合相关文献复习进行讨论.结果 目前国内外报道PRRT2相关难治性癫(癇)文献共6篇,收集其中病例资料相对完整的7例患者及本病例,共计8例.其中男5例、女3例;起病年龄:1例为出生后数小时,1例为3岁+2月龄,6例均在14月龄以内.8例均表现为难治性癫(癎),主要表现为全面强直痉挛发作;脑电图检查均有异常放电,表现为高度失律;1例有头颅影像学改变及有面部畸形;5例有起病前后发育落后.8例PRRT2基因突变位点均不同,ACMG致病性评估仅2例为可能致病.结论 PRRT2变异并非总是与相对良性神经系统疾病相关.c.1007T＞Gp.Leu336杂合新发突变为既往未报道的可能致病性突变.
Abstract
Aim To summarize the clinical features and treatment of PRRT2 gene-related refractory epilepsy in children.Methods The clinical data of children with PRRT2 gene-related refractory epilepsy were reviewed and discussed.Results At present,a total of 6 literatures related to PRRT2 refractory epilepsy have been reported at home and abroad,including 7 cases with relatively complete data and this case,a total of 8 cases.Among the 8 cases,5 cases were male and 3 cases were female.The onset age of the disease was within a few hours after birth in l case,3 years and 2 months in l case,and within 14 months in the rest.The main form of seizure was total tetanic spasm.Almost all electroencephalogram had abnormal discharge,mainly manifested as high dysrhythmia.Only case 6 had brain imaging changes and facial deformities.5 cases had developmental lag before and after the onset of the disease.All the 8 cases showed refractory epilepsy.The mutation sites of PRRT2 gene were different in 8 cases,and ACMG pathogenicity was assessed as probable in only 2 cases.Conclusion PRRT2 variants are not always associated with relatively benign neurological disorders.c.1007T＞G p.Leu336 heterozygous novel mutations are unreported as possible pathogenic mutations.
关键词
儿童/PRRT2基因/癫(癇)/发育迟滞Key words
children/PRRT2 gene/mutation/mild mental retardation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据