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Dr. van der Knaap used MRI as well as magnetic-resonance spectroscopy and determined that ongoing cystic degeneration of the cerebral white matter [1]and matter rarefaction[2]was more descriptive of the disease rather than hypomyelination and proposed the name vanishing white matter.[1]The name proposed by Dr. Schiffmann in 1994, childhood ataxia with central hypomyelination (CACH) is another commonly accepted name.[2]

The characteristic signal changes of the white matter seen in the disease may be difficult to differentiate in a newborn, but a follow up MRI may be diagnostic.

1. van der Knaap, M.S., Pronk, J.C., & Scheper, G.C. (2006). "Vanishing White Matter Disease". The Lancet Neurology 5: 413–423. doi:10.1016/S1474-4422(06)70440-9.

2. Pronk, J.C., van Kollenburg, B., Scheper, G.C., & van der Knaap, M.S. (2006). "Vanishing White Matter Disease: A Review with Focus on Its Genetics". Mental Retardation and Developmental Disabilities Research Reviews 12: 123–128. doi:10.1002/mrdd.20104.