Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome  

作　　者：Qi Zhang Liping Zou Qian Lu Qiuhong Wang Shuo Dun Jing Wang 

机构地区：[1]Medical School of Chinese PLA,Beijing,100853,China [2]Department of Pediatrics,the First Medical Center of PLA General Hospital,Beijing,100853,China

出　　处：《Acta Epileptologica》2024年第1期67-73,共7页癫痫学报（英文）

基　　金：funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081).

摘　　要：Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.

关 键 词：Infantile Sandhoff disease Gene variant reanalysis HEXB gene Infantile epilepsy spasm syndrome Cherry red spot Human phenotype ontology 

分 类 号：R742.1[医药卫生—神经病学与精神病学]