目的 探讨 ALG 1 基因相关先天性糖基化障碍（ALG1-CDG）的临床及遗传特征。方法 回顾分析 2 例 ALG 1 -CDG患儿的临床资料，并复习相关文献。结果 来自同一家系的兄妹，均于出生后即有精神运动发育落后，且均在 早期出现痉挛性发作，伴小头畸形、肌张力低下、乳头内陷、眼部异常、血小板减少等；脑电图呈高峰失律。基因检测提示 2例患儿均存在ALG 1基因复合杂合变异，c.1129 A>C（p.Met377 Leu）、c.1263+3 A>T，两个位点分别遗传自父母。检索 到国内外文献报道的ALG 1 -CDG患儿68例，其中国内报道2例。ALG 1 -CDG患儿主要表现为癫痫、精神运动发育落后、 肌张力低下及小头畸形等神经系统异常，同时可存在其他多系统疾病。结论 ALG 1 -CDG可表现为婴儿痉挛症，基因检 测有助于诊断及遗传咨询。本研究拓展了ALG 1表型谱及基因谱。

Objective To explore the clinical and genetic characteristics of ALG 1 gene-related congenital disorders of glycosylation (ALG 1 -CDG). Methods The clinical data of 2 children with ALG 1 -CDG were analyzed retrospectively, and the related literatures were reviewed. Results Both were from the same family. The 2 siblings had psychomotor developmental retardation after birth, and suffered from spastic seizures in the early stage, accompanied by microcephaly, hypotonia, inverted nipple, ocular abnormalities, thrombocytopenia and so on. The electroencephalogram showed hypsarrhythmia. Genetic testing indicated that both patients had compound heterozygous variations of c.1129 A>C (p. Met377 Leu) and c. 1263 + 3 A>T in the ALG 1 gene, which were inherited from their parents respectively. Sixty-eight children with ALG 1 -CDG reported in domestic and foreign literature were retrieved, of whom 2 were reported in China. Children with ALG 1 -CDG mainly present with neurological abnormalities such as epilepsy, psychomotor developmental retardation, hypotonia and microcephaly, and other multi-system diseases. Conclusions ALG 1 -CDG can be manifested as infantile spasms. Genetic testing is helpful for diagnosis and genetic counseling. This study extended the ALG 1 phenotype and gene spectrum.