Abstract：
The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.
摘要：
巨脑症综合征,大型call体（MEG-MegaCC）伴有完全缺乏运动发育是一种罕见的疾病，文献中只有很少的零星病例报道。在本文中,我们描述了一个来自非近亲父母的孩子，精神运动性迟钝,和语言障碍与MEG-MegaCC综合征有关。基因分析,放射学发现，MEG-MegaCC综合征及其重叠综合征的详细神经系统表型将有助于更好地对疾病谱进行分类。
