关键词: 白质消融性白质脑病；　感染；　发育倒退；　EIF2B5；　基因突变

Abstract: 　Objective　To analyze the clinical features and early diagnosis of leukoencephalopathy with vanishing white matter (VWM). Method　The clinical data and gene sequencing report of one child with VWM were retrospectively analyzed, and relevant literatures at home and abroad were reviewed. Result　The child, a 16-month–old girl, had normal movement and intelligence before onset. The motor development and intelligence were rapidly regressed after fever. Dysphagia, dysarthria, inability to walk and coma gradually appeared within one week. Cephalic MRI suggests an abnormal white matter, diffused symmetry, and a signal similar to that of cerebrospinal fluid. The results of genetic sequencing identified two missense mutations: c.407G>A (p.R136H) mutation on exon 3 and c.994G>A (p.R315H) mutation on exon 7 in EIF2B5 gene. VWM has poor prognosis and has no effective treatment, and coma was present after anti-infection and supportive treatment. Conclusion　Two missense mutations: c.407G>A (p.R136H) mutation and c.994G>A (p.R315H) mutation are novel. Early genetic analysis is suggested to make a definite diagnosis for leukoencephalopathy with VWM.