Metachromatic leukodystrophy

Case contributed by Dr Arthur Daire

Presentation

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

Patient Data

Age: 4
Gender: Male
Modality: MRI

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.

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Case Information

rID: 31061
Case created: 18th Sep 2014
Last edited: 4th Oct 2015
Inclusion in quiz mode: Included

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