Adrenoleukodystrophy

Case contributed by Dr Ian Bickle

Presentation

6 year-old boy with progressive bilateral visual impairment and poor motor progression for his age.

Patient Data

Age: 6
Gender: Male
MRI

Bilateral symmetrical cerebral white matter high T2 signal change involving the posterior (occipitoparietal) periventricular white matter.  Spared frontal lobes.

Bilateral symmetrical high T2 signal change in the corticospinal tracts ( pons ).

Edge enhancement of the extensive occiptoparietal abnormalities.

 

Case Discussion

Adrenoleukodystrophy (ALD) is a x-linked inherited metabolic peroxisomal disorder characterised 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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Case information

rID: 40430
Case created: 21st Oct 2015
Last edited: 8th Jan 2017
Inclusion in quiz mode: Included

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