Vanishing white matter disease

Case contributed by Dr Mostafa El-Feky


Chronic progressive neurological symptoms with ataxia and spasticity.

Patient Data

Age: 5
Gender: Female

MRI brain

Confluent T2 hyperintense lesions near CSF intensity are noted at the deep white matter showing suppression on FLAIR with partial involvement of the subcortical U-fibers. The distribution of the disease involves both anterior and posterior white matter with no either predominance. The posterior limbs of both internal capsules are affected with typical sparing of the anterior limbs. The external capsules are spared.  The corpus callsoum is diffusely involved with typically sparing its outer rim. Minor peri-ventricular rim of enhancement seen. No blooming on SWI. Small foci of restriction on DWI with low ADC seen at the outer peri-ventricular white matter.

Case Discussion

Vanishing white matter disease appears in MRI as diffuse symmetrical and progressive involvement of cerebral white matter with cystic changes, following CSF signal. Low signal intensity on T1W and high signal intensity on T2W sequences. Flair sequence shows white matter high signal intensity with patchy areas of low CSF signal intensity. T1W and Flair sequences demonstrate a radiating appearance of the fine network of remaining white matter strands best appreciated on the sagittal and the coronal views. Basal ganglia are spared. The diagnosis is made on the basis of clinical and MRI appearances.

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Case information

rID: 43175
Published: 18th Jun 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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