关键词: 白质消融性白质脑病, EIF2B基因, 双胎

Abstract: The clinical data and gene detection results of 2 children with leukoencephalopathy with vanishing white matter(VWM) in monozygotic twins were analyzed retrospectively. The children,female,were 4-year-and-10-month-old monozygotic twins. The elder of the twins was hospitalized for "abnormal gait for 2 months"; the younger of twins was hospitalized for "abnormal gait for 1 month". It was G3P3,and they were delivered at 37+4 weeks of gestation by cesarean section. The birth weight was 3 350 g and 3 250 g respectively. There was no history of asphyxia rescue at birth. They had normal development until after onset,both patients had abnormal gait,unstable walking,bilateral tendon hyperreflexia,and bilateral ankle clonus. Head plain scanning+enhancement+spectralanalysis+diffusion tensor imaging showed diffuse bilateral symmetric abnormal signals. The gene result showed a compound heterozygous mutation (not reported in China): EIF2B4 c.1544T>A (p.leu515gln),c.1445G>T (p.arg482leu). Their parents were both heterozygotes. VWM is one of the hereditary leukoencephalopathies,which is extremely rare. The diagnosis should be based on clinical manifestations,imaging and EIF2B gene analysis.

Key words:

Leukoencephalopathy with vanishing white matter, EIF2B gene, Twins