Sharma Suvasini, Arya Ravindra, Raju K N Vykunta, Kumar Atin, Scheper Gert C, van der Knaap Marjo S, Gulati Sheffali
All India Institute of Medical Sciences, New Delhi, India.
J Child Neurol. 2011 Mar;26(3):366-8. doi: 10.1177/0883073810381529. Epub 2010 Nov 29.
A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.
本文描述了一名5岁男孩，其出现进行性共济失调、神经功能退化，并在发热性疾病时病情加重。他还伴有肌阵挛性抽搐和上睑下垂。他的姐姐死于类似疾病。脑部的系列磁共振成像显示脑白质广泛异常，伴有稀疏和囊性变性，提示为消失性白质病。该患者被发现基因EIF2B5中有2个新突变的复合杂合子，从而确诊。
