Adrenoleukodystrophy

Discussion:

Adrenoleukodystrophy (ALD) is a x-linked inherited metabolic peroxisomal disorder characterized by lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matter with posterior-predominant pattern and early involvement of the splenium of the corpus callosum and periatrial white matter changes.

This case is classical both in terms of the clinical history and features - boys between 4-8 years old, and the essentially pathognomonic MRI features.

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