基因报告重新解读确诊的白质消融性白质脑病1例

A case of leukoencephalopathy with vanishing white matter confirmed by gene report reinterpretation

白质消融性白质脑病(VWM)是最常见的遗传性儿童白质脑病之一,其致病基因已被证实为EIF2B基因。本病以慢性进行性神经功能恶化伴小脑性共济失调为特征,痉挛性瘫痪通常不明显,智能减退也相对较轻。VWM的一个典型临床特点是应激(如发热、轻微创伤和急性惊吓)引起神经功能的严重恶化。头颅磁共振成像具有诊断价值,脑白质呈弥漫性"消融"模式。VWM起病可为胎儿期至成人的任何年龄,临床表型差异大,基因诊断是VWM诊断的"金标准"。文中报道1例病程长达17年的女性VWM患者,曾因低血清铜蓝蛋白被误诊为肝豆状核变性,经重新解读全外显子基因检测,最终确诊为VWM,值得临床医生警惕和思考。

Leukoencephalopathy with vanishing white matter(VWM)is one of the most prevalent inherited childhood white-matter disorders,and the pathogenic gene has been confirmed as EIF2B gene.VWM is characterized by chronic progressive neurological deterioration with cerebellar ataxia,usually less prominent spasticity and relatively mild mental decline.There are episodes of rapid and major neurological deterioration provoked by stresses,such as fever,minor physical trauma and acute fright,which is a characteristic clinical feature of VWM.Brain magnetic resonance imaging findings are diagnostic in almost all patients,and the disappearance of the cerebral white matter occurs in a diffuse"melting away"pattern.The onset of VWM can be at any age from fetal stage to adult stage,and the clinical phenotypes vary immensely.Gene diagnosis is the golden standard for VWM.This article reported a patient with a course of 17 years,who was misdiagnosed as Wilson′s disease because of low serum ceruloplasmin,and was finally diagnosed as VWM by reinterpretation of whole exome sequencing,which is worthy of clinicians′vigilance and consideration.