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Updated: Aug 13, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
MRI of a family with leukoencephalypathy with vanishing white matter
Elzbieta Jurkiewicz1, Hanna Mierzewska, Monika Bekiesińska-Figatowska
1Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
Abstract:
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.
Insights
Vanishing white matter (VWM) disease is a rare neurological disorder. Genetic analysis confirmed VWM in three sisters presenting with progressive neurological decline and distinct MRI findings.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Leukoencephalopathy with vanishing white matter (VWM) is an emerging neurological condition.
- Characteristic magnetic resonance imaging (MRI) findings are associated with VWM.
Observation:
- The study examined three sisters with a slowly progressive neurological deterioration.
- Cranial MRI revealed symmetrical, diffuse white matter abnormalities.
Findings:
- FLAIR images demonstrated hypointensity in the affected cerebral white matter.
- Genetic analysis confirmed the diagnosis of leukoencephalopathy with VWM.
Implications:
- This case series highlights the MRI characteristics of VWM disease.
- Genetic confirmation is crucial for diagnosing this rare leukoencephalopathy.
