Adrenoleukodystrophy

Case contributed by Huda B. Gharbia
Diagnosis almost certain

Presentation

Known case of Addison's disease, with headache and blurred vision.

Patient Data

Age: 8 years
Gender: Male
mri

MRI reveals bilateral symmetrical changes in deep white matter of both tempero-parieto-occipital regions, periventricular regions posteriorly and splenium of corpus callosum. These appear hypointense on T1W and hyperintense on T2W and FLAIR sequences. In addition, there are similar signal changes in both cerebellar hemispheres, extending to the middle cerebellar peduncles.  The same signal changes are seen slightly involving the anterior midbrain.

No restricted diffusion. 

Case Discussion

Addison's disease with brain demyelinating changes around atria of both lateral ventricles and posterior aspect of corpus callosum giving characteristic features of adrenoleukodystrophy.

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