Presentation
Progressive neurological deterioration with with tonic clonic seizures. Unable to sit without support now.
Patient Data
Age: 4
Gender: Male
From the case:
Metachromatic leukodystrophy
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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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