Progressive neurological deterioration with with tonic clonic seizures. Unable to sit without support now.
Loading Stack -
0 images remaining
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.
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.
- Sener RN. Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol. 2003;44 (4): 440-3. Pubmed citation
- Sener RN. Metachromatic leukodystrophy: diffusion MR imaging findings. AJNR Am J Neuroradiol. 2002;23 (8): 1424-6. AJNR Am J Neuroradiol (full text) - Pubmed citation
- Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011;11 (10): 1485-96. doi:10.1586/ern.11.135 - Pubmed citation