Metachromatic leukodystrophy

Case contributed by Dr Arthur Daire


Progressive neurological deterioration with with tonic clonic seizures. Unable to sit without support now.

Patient Data

Age: 4
Gender: Male

Diffuse  symmetric white matter FLAIR and T2 signal hyperintensity, with associated patchy areas diffusion restriction.

These findings are suggestive of  leukodystrophy and  metachromatic leukodystrophy is more likely.

No associated brain swelling. 

Case Discussion

Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.

The findings in this case are very suggestive of this diagnosis, but we were unable to confirm it.

PlayAdd to Share

Case information

rID: 31061
Published: 25th Sep 2014
Last edited: 4th Oct 2015
Inclusion in quiz mode: Included

Updating… Please wait.

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

 Thank you for updating your details.