摘要
目的提高对HEXA基因突变导致GM2神经节苷脂贮积症的认识。方法回顾性分析1例不典型GM2神经节苷脂贮积症患儿的临床表现、实验室检查以及基因诊断结果,同时对国内外文献进行复习,并对该病的发病率、临床表现、诊断、现行的治疗方式以及预后进行总结。结果患儿存在智力运动发育倒退,听觉过敏,肌张力异常,腱反射活跃。医学全外显子检测发现:受检者携带HEXA基因的复合杂合变异,母亲携带c.546dupA(p.L183Tfs*3)杂合变异,父亲携带c.611A>G(p.H204R)杂合变异。予以推拿治疗、功能训练等康复2个月,症状好转,随访至2岁时出现癫痫。结论GM2神经节苷脂贮积症临床罕见,患者常有智力运动发育倒退、听觉过敏、眼底樱桃红斑,临床早期确诊难度较大。血白细胞β氨基己糖苷酶以及基因学检测有利于明确诊断。
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.Leucocyteβ-hexosaminidase and genetic testing is helpful for diagnosis.
作者
张勇
翟红印
崔文哲
郭智宽
ZHANG Yong;ZHAI Hongyin;CUI Wenzhe;GUO Zhikuan(Traditional Chinese Medicine Department,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中国中西医结合儿科学》
2022年第4期280-283,共4页
Chinese Pediatrics of Integrated Traditional and Western Medicine
基金
河南省医学自然科学基金项目(202300410399)。
