白质消融性白质脑病2例报告并文献复习

摘要

目的：探讨白质消融性白质脑病（VWM）的临床表现及基因表型。方法回顾性分析经基因检测确诊的2例VWM患儿的临床资料，并复习相关文献。结果2例患儿发病年龄分别为8个月、2岁，既往精神运动发育均正常；在急性发热后出现精神反应差，认知、运动功能进行性倒退；脑脊液检查未见异常；头颅磁共振提示两侧大脑半球脑白质对称性异常信号；基因检测1例为EIF 2 B 5复合杂合变异；另1例EIF 2 B 2复合杂合变异，其中c.911_913 del缺失变异导致第305号氨基酸缺失（p.305 del），属于新突变，短期内死亡。结论 VWM早期精神、运动发育基本正常，发热后出现进行性神经系统功能倒退，预后差。EIF2B突变可确诊。%Objective To explore the genotype and phenotype of two patients with white matter melting leukoencephalopathy (VWM). Methods Clinical data of two children with VWM diagnosed through genetic test were retrospectively analyzed, with a review of relevant literature.Results Onset age of the two patients were 8 months and 2 years old, respectively. Their psychomotor development were previously normal. They were with poor response after acute fever, and cognition and motor function were progressively regressed. Their cerebrospinal lfuid examination was normal. Brain MRI showed symmetry abnormal signal in the hemispheres brain white matter. Genetictest found compound heterogeous mutations inEIF2B5gene in the both cases, and a c. 911_913del mutation caused deletion of 305th amino acid.ConclusionsVWM was characterized by previously normal mental and motor development, and later progressive regression after fever, and with poor prognosis. Brain MRI manifestation of the disease was widely symmetry brain white matter involvement, and gradually evolved into the same signal of cerebrospinal lfuid. Mutations found inEIF2Bcan determine the diagnosis of VWM.