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Phenotypic variation in leukoencephalopathy with vanishing white matter
M S van der Knaap1, W Kamphorst, P G Barth
1Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Neurology
|August 26, 1998
Summary
Milder forms of vanishing white matter (VWM) disease present later in childhood or adolescence. Histopathology and MRI suggest VWM is a primary axonopathy, not demyelination.
Area of Science:
- Neurology
- Neuroimaging
- Pathology
Background:
- Vanishing white matter (VWM) disease is typically diagnosed based on early-childhood onset of neurological decline.
- This study investigates variants of VWM with later onset and milder symptoms.
Observation:
- Five patients with VWM, excluding age of onset, were analyzed for clinical, MRI, and spectroscopic data.
- One patient underwent histopathological examination.
Findings:
- Four patients experienced disease onset in late childhood or adolescence; one remained presymptomatic into their twenties.
- MRI revealed diffuse cerebral hemispheric leukoencephalopathy with white matter rarefaction.
- Magnetic Resonance Spectroscopy (MRS) indicated reduced but not absent white matter signals, with some lactate and glucose presence, suggesting axonal damage rather than active demyelination or gliosis.
- Histopathology confirmed extensive white matter rarefaction with commensurate axonal and myelin sheath loss, including brainstem pontine lesions.
Implications:
- Vanishing white matter disease can manifest with later onset and a milder clinical course.
- MRS and histopathological findings support VWM as a primary axonopathy, challenging the traditional view of it being a primary demyelinating disease.