Case contributed by Dr Arthur Daire


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

Patient Data

Age: 7
Gender: Male

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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Case information

rID: 31007
Published: 15th Sep 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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