Vanishing white matter disease

Case contributed by Dr Mostafa Mahmoud El Feky

Presentation

Chronic progressive neurological symptoms with ataxia and spasticity.

Patient Data

Age: 5
Gender: Female
Modality: MRI

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-fibres. 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.

MR spectroscopy (centrum semiovale): Large inverted lactate peak with relative increased levels of Choline and diminished NAA. 

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

PlayAdd to Share

Case Information

rID: 43175
Case created: 26th Feb 2016
Last edited: 2nd Jun 2016
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.