Vanishing white matter disease

Case contributed by Md Imdadul Islam
Diagnosis probable


Ataxia, occasional seizures and spasticity with normal developmental milestones.

Patient Data

Age: 3 years
Gender: Male

Diffuse white matter hyperintensity in T2/FLAIR with few areas of cerebrospinal fluid (CSF) like densities within the white matter predominantly involving centrum semiovale, frontal and parieto-occipital regions. The corpus callosum is also involved. The involved white matter appears hypointense on T1 with no restricted restriction on DWI.

Case Discussion

Vanishing white matter disease is a rare entity.

The affected child is often presented with an inciting history of minor trauma or acute illness followed by deterioration.

In our case, no such history could be confirmed. Our patient had regular birth history and typical developmental milestones.

Diffuse white matter hyperintensity predominantly involves the centrum semiovale, frontal and parieto-occipital regions, and the corpus callosum. The affected white matter appears hyperintense on T2/FLAIR and diffusely hypointense on T1w images with no restriction on DWI. Although corpus callosum is affected, the outer margin is spared. Few foci of CSF like densities were noted within the affected white matter. The subcortical U fiber is spared. Typical MRI findings with normal developmental milestones and clinical history suggest the diagnosis.

Other differential includes Canavan disease and advanced stage Alexander disease

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