Adrenoleukodystrophy

Case contributed by Dr Alex Lim Tat Leong

Presentation

Patient presented with altered behaviour.

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. 

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Case information

rID: 71477
Published: 8th Oct 2019
Last edited: 9th Oct 2019
Inclusion in quiz mode: Included

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