Smith-Kingsmore syndrome with nystagmus as the initial symptom

作     者：Meiling Cai Yanfei Zhao He Wang Shicheng Liu Huiyi Jiang Meiling Cai;Yanfei Zhao;He Wang;Shicheng Liu;Huiyi Jiang

作者机构：Department of PediatricThe First Hospital of Jilin UniversityChangchun130021China 

出 版 物：《Acta Epileptologica》 (癫痫学报（英文）)

年 卷 期：2023年第6卷第4期

页      面：256-263页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：MTOR gene Smith-Kingsmore syndrome Nystagmus EEG 

摘      要：Background Smith-Kingsmore syndrome(SKS)is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few *** first case of SKS was reported in *** incidence of SKS remains *** clinical manifestations of SKS are diverse,and common features are macrocephaly,intellectual disability,and *** patients with SKS have special facial *** presentation The case was a 5-month-old baby girl,who was admitted to the hospital for nystagmus,delayed development for 2 months,and intermittent convulsions for 2 *** patient had a head circumference of 42 cm(+2SD),and showed facial deformity,low limb muscle tension,large areas of pigmentation,as well as mosaic patchy and strip-like pigment loss in her trunk and ***,her development was lagging behind *** examination did not reveal other *** was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and *** successively received treatment with adrenocorticotropic hormone,methylprednisolone sodium succinate,topiramate,levetiracetam,and zonisamide to reduce the number of convulsions in a short time,but drug resistance appeared *** combined treatment with multiple antiseizure medications,the patient still had seizures,but the amplitude of limb movement during the seizures was reduced compared to that before *** This case expanded the phenotypic spectrum of SKS for *** also review the related literature to promote the awareness,diagnosis,clinical management,and follow-up of SKS patients with MTOR mutations.