Related Experiment Video
Updated: Jul 18, 2026
Magnetic Resonance Imaging of Multiple Sclerosis at 7.0 Tesla
Published on: February 19, 2021
Rapidly progressive vanishing white matter disease in a child with previously inconspicuous brain MRI
1Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ding@uke.uni-hamburg.de
Abstract:
In this pediatric case of vanishing white matter disease with early onset, rapidly progressive course, and fatal outcome, the white matter vanishing process in patient was for the first time documented morphologically in detail: An initial magnetic resonance imaging documented a normal appearing brain maturation. Rapid progressive brain lesions initiated morphologically DE NOVO in the former well myelinated deep white matter were observed six months later after disease onset, including concentric ongoing signs of restricted proton diffusion cytotoxic edema on diffusion weighted imaging. Cyst-like defects at the lesion center of the deep white matter were detected more clearly on MRI ten months later. A pathomechanism like tumor necrosis factor induced oligodendrocyte apoptosis and primary demyelination was postulated. The case demonstrates that in the presence of clinically progressive symptoms, the development of VWM is possible even if first MRI findings are negative.
Insights
This study details the rapid white matter vanishing in a child with vanishing white matter disease (VWM). It highlights that VWM progression can occur even with initially normal MRI scans.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuroimaging
Background:
- Vanishing white matter disease (VWM) is a rare, severe pediatric leukoencephalopathy.
- Early diagnosis and understanding of VWM's progression are crucial for potential interventions.
Observation:
- A pediatric case of early-onset, rapidly progressive VWM with a fatal outcome was studied.
- Initial MRI showed normal brain maturation, but lesions developed within six months.
- Subsequent MRIs revealed progressive white matter lesions with cytotoxic edema and cyst-like defects.
Findings:
- The study provides detailed morphological documentation of the white matter vanishing process in VWM.
- Rapidly progressive lesions with restricted diffusion and edema were observed de novo in deep white matter.
- Oligodendrocyte apoptosis and primary demyelination were postulated as the underlying pathomechanism.
Implications:
- This case underscores that VWM can progress rapidly even if initial MRI scans are negative.
- Morphological documentation aids in understanding VWM's complex pathogenesis.
- Highlights the importance of serial imaging in suspected cases of pediatric leukoencephalopathies.
