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X-linked adrenoleukodystrophy

Case contributed by Mahesh Gautam
Diagnosis almost certain

Presentation

Seizure disorder.

Patient Data

Age: 5 years
Gender: Male
  • CT brain demonstrates decrease attenuation of deep white matter in the parieto-occipital lobes bilaterally. 
mri

MRI of the brain demonstrates high signal intensity in T2/FLAIR and low signal intensity on T1 involving the deep white matter of bilateral parieto-occipital lobes and extending into the splenium of corpus callosum, posterolateral thalamus, posterior limb of the internal capsule, and cortico-spinal tracts. There is no diffusion restriction. Faint enhancement is noted along the anterior margin of the lesion. 

Case Discussion

Typical appearance of adrenoleukodystrophy.

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