临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 695-.doi: 10.3969/j.issn.1000-3606.2020.09.013

• 综合报道 • 上一篇    

先天性糖基化障碍Ie 型合并先天性肌营养不良表型患儿临床和基因分析

祁婧 1, 逯军 1, 何波 1, 何小恋 2   

  1. 1.中南大学湘雅医学院附属海口医院(海南海口 570208);2.海南省妇女儿童医学中心 (海南海口 570206)
  • 发布日期:2020-09-17
  • 通讯作者: 逯军 电子信箱:lu139762@163.com

Clinical and genetic analysis of congenital disorder of glycosylation type Ie with congenital muscular dystrophy

QI Jing1, LU Jun1, HE Bo1, HE Xiao Lian2   

  1. 1.Central South University Xiangya School of Medicine Affiliated Haikou Hospital, Haikou 570208, Hainan, China; 2.Hainan Maternal Children’s Medical Center, Haikou 570206, Hainan, China
  • Published:2020-09-17

摘要: 目的 探讨多萜醇磷酸甘露糖基转移酶1(DMP1)基因变异致先天性糖基化障碍Ie型(CDG-Ie)合并先天性 肌营养不良表型的临床表现及基因变异。方法 回顾分析1例CDG-Ie型合并先天性肌营养不良表型患儿的临床资料及基 因检测结果。结果 男性患儿, 1月龄即发现头围小,随后有智力、运动发育迟缓、小头畸形、癫痫性脑病、肌力和肌张力 减弱、双足挛缩、扁鼻梁、小下颌、双眼上斜、追光差等表现,血清肌酸肌酶升高。头颅磁共振示脑萎缩,脑外间隙弥漫性 增宽,脑内髓鞘化明显偏弱。脑电图为暴发-抑制改变。基因测序显示患儿DPM1基因存在复合杂合变异,c.669-3C>G和 c.677G>T;家系分析提示c.669-3C>G来自母亲,c.677G>T来自父亲。确诊为CDG-Ie。结论 CDG-Ie是CDG的罕见类型, 常合并先天性肌营养不良表型,早期基因检测有助明确诊断。

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