Leukoencephalopathy with Vanishing White Matter: Serial MRI of the Brain and Spinal Cord including Diffusion Tensor Imaging

Abstract

Vanishing white matter disease (VWM) is one of the most frequent inherited childhood white matter disorders. We present the brain and spinal cord disease progression on serial conventional magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) in a 4-year-old boy. Consecutive MRI examinations demonstrated a progression of the signal abnormalities in the cerebral white matter. Globally, apparent diffusion coefficient (ADC) values as well as axial and radial diffusivity increased over time, while fractional anisotropy (FA) values decreased. Involvement of the cervical posterior spinal tracts and mild global spinal cord atrophy was found. In conclusion, serial MRI and DTI studies may help to better understand the selective injury of the myelin and axons in VWM disease. These data may help in monitoring disease progression. Our data also show that complete neuroimaging work-up in VWM should also include the spinal cord.

Key words

vanishing white matter disease - white matter disorders - neuroimaging - diffusion tensor imaging - MR spectroscopy - spinal cord

• References

• 1 Bruck W, Herms J, Brockmann K et al Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development. Ann Neurol 2001; 50: 532-536
• 2 Girard PF, Tommasi M, Rochet M et al Leukoencephalopathy with large bilateral symmetrical cavitation. Post-traumatic decortication syndrome. Presse Med 1968; 76: 163-166
• 3 Hanefeld F, Holzbach U, Kruse B et al Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993; 24: 244-248
• 4 Schiffmann R, Moller JR, Trapp BD et al Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331-340
• 5 Sijens PE, Boon M, Meiners LC et al ¹H chemical shift imaging, MRI, and diffusion-weighted imaging in vanishing white matter disease. Eur Radiol 2005; 15: 2377-2379
• 6 Song SK, Sun SW, Ju WK et al Diffusion tensor imaging detects and differentiates axon and myelin degeneration in mouse optic nerve after retinal ischemia. Neuroimage 2003; 20: 1714-1722
• 7 van der Knaap MS, Barth PG, Gabreëls FJ et al A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48: 845-855
• 8 van der Knaap MS, Kamphorst W, Barth PG et al Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998; 51: 540-547
• 9 van der Knaap MS, van Berkel CG, Herms J et al eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003; 73: 1199-1207
• 10 van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol 2006; 5: 413-423
• 11 Vermeulen G, Seidl R, Mercimek-Mahmutoglu S et al Fright is a provoking factor in vanishing white matter disease. Ann Neurol 2005; 57: 560-563