关键词: GM2神经节苷脂贮积症, HEXA基因, 儿童

Abstract: Objective To improve the understanding of GM2 ganglioside storage syndrome caused by HEXA gene mutation.Methods The clinical manifestations，laboratory examinations and genetic diagnosis of GM2 ganglioside storage syndrome in one child were analyzed retrospectively.Meanwhile，domestic and foreign literatures were reviewed，and the incidence，clinical manifestations，diagnosis，current treatment methods and prognosis of the disease were summarized. Results The child had mental motor development regression，auditory hypersensitivity，abnormal muscular tone and active tendon reflexes.Medical whole exons detection showed that the subject carried HEXA gene heterozygous variation，the mother carried c.546dupA(p.L183Tfs*3) heterozygous variation，and the father carried c.611A >G (p.H204R) heterozygous variation.Massage therapy and functional training were given for two months，and the symptoms were improved.Conclusion Clinically GM2 ganglioside storage syndrome is very rare，and patients often have mental motor development regression，hyperacusis and fundus cherry erythema，so it is relatively hard to make early clinical diagnosis.Leucocyte β-hexosaminidase and genetic testing is helpful for diagnosis.

Key words:

GM2 ganglioside storage syndrome, HEXA gene, Children