Jurkiewicz Elzbieta, Mierzewska Hanna, Bekiesińska-Figatowska Monika, Pakua-Kościesza Iwona, Kmieć Tomasz, Scheper Gert, van der Knaap Marjo S, Pronicka Ewa
Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24.
Leukoencephalopathy with vanishing white matter (VWM) is a newly described entity with characteristic MRI features. We report the cranial MRI findings in three sisters with slowly progressive neurological deterioration. The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis.
伴脑白质消失的脑白质病（VWM）是一种新描述的具有特征性MRI表现的疾病。我们报告了三名患有缓慢进行性神经功能恶化的姐妹的头颅MRI检查结果。MRI显示脑白质呈对称性弥漫性异常，在液体衰减反转恢复（FLAIR）图像上呈低信号。基于基因分析做出了伴VWM的脑白质病的诊断。
