X-linked adrenoleukodystrophy

Case contributed by Dr Ian Bickle

Presentation

Late onset divergent squint, poor balance, disorientation, swallowing difficulty. To exclude intracranial pathology.

Patient Data

Age: 9 years
Gender: Male
MRI

Increased T2-weighted signal change in the white matter of the parietal, occipital and temporal lobes cantered around the trigones of the lateral ventricles and extending across the splenium and posterior body of the corpus callosum. Focal increased T2-weighted signal change in the globus pallidus nuclei, anterior commissure, cerebral peduncles and midbrain.

The leading edge of the lesion shows restricted diffusion. 

Case Discussion

The appearances are in keeping with adrenoleukodystrophy. The restricted diffusion at the leading edge suggests that this is active.

The gender, age and clinical symptoms are consistent with this diagnosis and this was confirmed with genetic testing.

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Case information

rID: 79663
Published: 2nd Jul 2020
Last edited: 2nd Jul 2020
Inclusion in quiz mode: Included

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