磁共振成像在白质消融性白质脑病诊断中的价值

The clinical value of MRI in the diagnosis of leukoencephalopathy with vanishing white matter

目的分析磁共振成像(MRI)在白质消融性白质脑病诊断中的价值。方法对7例经基因突变分析确诊的白质消融性白质脑病患者的临床特征及头颅MRI表现进行分析、总结。结果 7例均出现运动能力倒退,且由于应激而进行性加重;头颅MRI均表现为弥漫性对称性脑白质受累,部分呈脑脊液样信号改变。结论头颅MRI在白质消融性白质脑病诊断及病程评估中具有重要的价值。

Objective To evaluate the clinical value of MRI in the diagnosis of leukoencephalopathy with vanishing white matter（VWM）.Methods To analyze the clicial features and MRI findings of 7 patients who were diagnosed as VWM through gene mutation analysis.Results All of 7 patients appeared deterioration of motor ability in which minor stress conditions provoked major episodes of neurologic deterioration.MRI showed diffuse and symmetric involvement of the cerebral white matter,and part of white matter were replaced by fluid.Conclusion MRI is a powerful imaging method in the diagnosis and evaluation of VWM.