PDF(Pubmed)
Abstract：
De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.
摘要：
EIF2AK2的从头致病变异最近被报道为白质脑病的一种新的遗传原因。这里,我们描述了一个男性个体，其在生命的第一年表现出类似于Pelizaeus-Merzbacher病（PMD）的临床特征，包括眼球震颤,低张力,和全球发展延迟，后来发展到包括共济失调和痉挛。2岁时的脑部MRI显示弥漫性髓鞘减少。该报告增加了发表的有限数量的个体，并进一步加强了EIF2AK2中的从头变异，作为临床和放射学上类似于PMD的脑白质营养不良的分子原因。
