生酮饮食治疗SMARCA2基因变异所致婴儿痉挛症1例报告并文献复习

A Case Report and Literature Review of Ketogenic Diet Treatment for Infantile Spasms Caused by SMARCA2 Gene Mutation

目的提高对SMARCA2基因变异所致婴儿痉挛症及生酮饮食治疗的认识。方法对确诊为SMARCA2基因变异所致婴儿痉挛症的1例患儿的临床资料和治疗进行分析及文献复习。结果患儿出生后2月起出现癫痫痉挛发作。查体显示,双眼眼距略宽,双耳位置略低,软腭裂隙,双侧腹股沟斜疝,5月仍不能竖头、不能翻身,四肢肌张力低。头核磁共振提示胼胝体压部发育欠佳。脑电图显示间断高度失。基因结果显示SMARCA2基因7号、19号外显子杂合缺失变异。治疗过程中先后口服醋酸泼尼松、托吡酯、氨己烯酸,效果欠佳,给予生酮饮食后,癫痫发作明显减少,智力、运动能力有所改善。结论SMARCA2基因变异所致的婴幼儿药物难治性癫痫尽早应用生酮饮食治疗可以改善癫痫发作,进而改善患儿智力、运动发育。

Objective To improve understanding of SMARCA2 gene mutation induced infantile spasms and ketogenic diet therapy.Methods The paper analyzed clinical data of a child with infantile spasms caused by SMARCA2 gene mutation and carried on literature review.Results①The female child developed seizures and spasms 2 months after birth.Physical examination:distance between eyes was slightly wide,position of ears was slightly lower,there was a cleft in soft palate,and there was a bilateral inguinal hernia.After 5 months,the head could not be straightened or turn over,with low muscle tone of limbs.Head MRI suggested poor pressure part development of corpus callosum.Electroencephalogram showed intermittent height loss.Genetic results showed heterozygous deletion variation in exons 7 and 19 of SMARCA2 gene during treatment process.②Oral prednisone acetate,topiramate,and aminohexenoic acid were taken successively,with unsatisfactory effect.After administering ketogenic diet,seizures were significantly less,intelligence and exercise improved.Conclusion Early application of ketogenic diet therapy can improve seizures,intellectual and motor development of infants and young children with drug-resistant epilepsy caused by SMARCA2 gene mutations.