Adrenoleukodystrophy

Case contributed by Alex Lim Tat Leong
Diagnosis certain

Presentation

Patient presented with altered behavior.

Patient Data

Age: 8 years
Gender: Male
ct

White matter hyodensities with foci of calcification noted at both parieto-occipital lobes.

mri

Signal changes on T1, T2 and T1C+ with zonal distribution noted at both occipito-parietal lobes. On the post-contrast sequence, there is peripheral enhancement noted taking the appearance of a garland. 

Case Discussion

Classical MRI changes noted. This patient underwent ABCD1 gene mutation analysis, which was positive. The mutation in the ABCD1 gene causes X-linked adrenoleukodystrophy, which is inherited in an X-linked manner. 

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.