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 ep...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.展开更多
目的探讨婴儿型Sandhoff病临床及基因突变特点。方法回顾性分析1例婴儿型Sandhoff病患儿的临床资料以及基因检测结果。结果高通量测序结合Sanger测序验证结果显示患儿携带HEXB基因c.1540-1541del(p.Trp514fs)和c.1404delT(p.Pro468fs),...目的探讨婴儿型Sandhoff病临床及基因突变特点。方法回顾性分析1例婴儿型Sandhoff病患儿的临床资料以及基因检测结果。结果高通量测序结合Sanger测序验证结果显示患儿携带HEXB基因c.1540-1541del(p.Trp514fs)和c.1404delT(p.Pro468fs),依据美国医学遗传学和基因组学协会(American College of Medical Genetics and Genomics,ACMG)指南,判定该变异为致病性变异。结论Sandhoff disease(SD)是由HEXB基因突变引起β-氨基己糖苷酶活性不足,从而导致GM2神经节苷脂在神经系统大量积累,是一种罕见的遗传性溶酶体病,目前缺乏有效的治疗方法。展开更多
基金funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081).
文摘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.
文摘目的探讨婴儿型Sandhoff病临床及基因突变特点。方法回顾性分析1例婴儿型Sandhoff病患儿的临床资料以及基因检测结果。结果高通量测序结合Sanger测序验证结果显示患儿携带HEXB基因c.1540-1541del(p.Trp514fs)和c.1404delT(p.Pro468fs),依据美国医学遗传学和基因组学协会(American College of Medical Genetics and Genomics,ACMG)指南,判定该变异为致病性变异。结论Sandhoff disease(SD)是由HEXB基因突变引起β-氨基己糖苷酶活性不足,从而导致GM2神经节苷脂在神经系统大量积累,是一种罕见的遗传性溶酶体病,目前缺乏有效的治疗方法。
