关键词: 先天性糖基化障碍；　DMP1基因；　先天性肌营养不良

Abstract: Objective　To explore the clinical manifestations and gene variation of congenital disorders of glycosylation type Ie (CDG-Ie) with congenital muscular dystrophy caused by DMP1 gene mutation. Method　The clinical data and gene detection results of a CDG-Ie combined with congenital muscular dystrophy in a child were retrospectively analyzed. Results　The male child was found to have a small head circumference at the age of 1 month, followed by intelligence and motor retardation, microcephaly, epileptic encephalopathy, reduced muscle strength and muscle tension, bipedal contracture, flat nasal bridge, small jaw, oblique eyes, poor light tracing and other manifestations. He also had elevated serum creatine creatinase. Head MRI showed brain atrophy, diffusely widened extracerebral space, and obviously weak myelination in the brain. Electroencephalogram showed explosive inhibition. The results of gene sequencing showed that there were heterozygous mutations in DPM1 gene, c.669-3C>G and c.677G>T. Family analysis indicated that c.669-3C>G was from the mother and c.677G>T was from the father. The child was diagnosed with CDG-Ie. Conclusion　CDG-Ie is a rare type of CDG, often associated with congenital muscular dystrophy. Early gene detection is helpful for the diagnosis.

Key words: congenital glycosylation disorder;　DMP1 gene;　congenital muscular dystroph