营养不良症,它们是由α-营养不良聚糖的糖基化减少引起的,是一组异质性的神经退行性疾病,其特征是大脑和骨骼肌受累。肌-眼-脑疾病(或肌营养不良-肌营养不良症3A型)是一种常染色体隐性遗传疾病,以先天性肌营养不良为特征,眼部异常,还有间脑畸形.
我们报告了一个6岁男孩的临床和遗传特征,该男孩患有肌营养不良-营养不良病。他的精神运动和言语发育严重延迟,肌肉低张力,先天性近视,视神经盘部分萎缩,肌酸激酶水平升高,原发性肌肉病变,polymicrogyria,脑室肿大,call体发育不全,小脑囊肿。外显子组测序显示POMGNT1基因中的复合杂合突变(转录本NM_001243766.1):c.15391G>A和c.385C>T。
本病例报告显示了逐步的诊断算法,有助于更好地了解先天性肌营养不良的临床和遗传特征。
Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly.
We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T.
The present
case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.