Adrenoleukodystrophy

Case contributed by Arthur Daire
Diagnosis probable

Presentation

Young boy presenting with progressive weakness, vomiting and cognitive deterioration.

Patient Data

Age: 7 years
Gender: Male
mri

There is extensive  posterior parietal and occipital white matter T2 white hyperintensities, sparing the subcortical white matter. No brain swelling. Associated diffusion restriction.

Case Discussion

These imaging findings are suggestive of adrenoleukodytrophy in this patient. However, further imaging with contrast and  MR spectroscopy would be ideal in further assessment.

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