携带EIF2B5基因突变的消失性白质脑病
Vanishing white matter disease with mutations in EIF2B5 gene.
作者信息
Sharma Suvasini, Ajij Mohemmed, Singh Varinder, Aneja Satinder
机构信息
Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, 110001, India,
出版信息
Indian J Pediatr. 2015 Jan;82(1):93-5. doi: 10.1007/s12098-014-1583-4. Epub 2014 Sep 18.
An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5; confirming the diagnosis.
一名18个月大的女孩因13个月大时发热性疾病后已获得的发育里程碑突然丧失而前来就诊。脑部磁共振成像（MRI）显示广泛的白质丢失，伴有稀疏和囊性变性；提示为消失性白质病。该患者被发现是EIF2B5基因两个突变的复合杂合子；从而确诊。
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