Vanishing white matter (VWM) disease: management

Magnetic resonance imaging (MRI)

• This shows a diffuse leukoencephalopathy
• It involves the cerebrum and cerebellum
• There is early involvement of the corpus callosum inner rim
• The signal intensity approaches CSF intensity
• There may be extensive cystic degeneration and cerebral atrophy
• Restricted diffusion is seen in the relatively spared areas

References

1. van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48:845-855.
2. Labauge P, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009; 132:2161-2169.
3. Bektaş G, Yeşil G, Özkan MU, Yıldız EP, Uzunhan TA, Çalışkan M. Vanishing white matter disease with a novel EIF2B5 mutation: a 10-year follow-up. Clin Neurol Neurosurg 2018; 171:190-193.
4. Herwerth M, Schwaiger BJ, Kreiser K, Hemmer B, Ilg R. Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: a case report. Mult Scler 2015; 21:666-668.
5. van der Lei HD, Steenweg ME, Bugiani M, et al. Restricted diffusion in vanishing white matter. Arch Neurol 2012; 69:723-727.
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Related checklists

• Vanishing white matter (VWM) disease: clinical features
• Ovarioleukodystrophy
• Cree leukoencephalopathy (CLD)