先天性糖基化异常Id型1例临床与基因分析

Clinical and genetic characteristics of congenital disorders of glycosylation type Id: a case report

目的探讨先天性糖基化异常Id型(CDG-Id)的临床及基因特点。方法回顾分析1例CDG-Id型婴儿的临床资料及基因检测结果,并复习相关文献。结果患儿,男,生后2个月开始出现抽搐,运动发育落后于同龄儿,肌力、肌张力偏低。头颅磁共振成像示两侧额颞部脑外间隙增宽,两侧侧脑室饱满。基因测序显示患儿ALG3基因存在两处杂合突变点,分别为c.494A>G(p.His165Arg)和c.33del(p.Gly12fs),确诊为CDG-Id。结论 CDG-Id是常染色体隐性遗传病,为CDG中的罕见类型,以神经系统症状最为突出,ALG3基因检测有助诊断。

Objective To explore the clinical and genetic characteristics of congenital disorders of glycosylation type Id(CDG-Id).Method The clinical data and genetic test results of a case of CDG-Id were retrospectively analyzed and related literature were reviewed.Results A male infant began to have convulsions 2 months after birth,with motor development retardation and low muscle strength and low muscle tension.Brain magnetic resonance imaging showed widened bilateral extracranial space in frontotemporal region and the full bilateral lateral ventricles.Genetic sequencing revealed that there were two heterozygous mutations in the ALG3 gene,C.494A>G(p.His165Arg)and C.33del(p.Gly12fs),so the infant was diagnosed of CDG-Id.Conclusions CDG-Id,a rare type of CDG,is an autosomal recessive inherited disease.The neurological symptoms are the most prominent manifestation.The ALG3 gene detection is helpful for diagnosis.