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Adrenoleukodystrophy

Case contributed by Bhaven Shah
Diagnosis almost certain

Presentation

Gradual onset of reduction in vision in both eyes. No significant regression of milestones noted.

Patient Data

Age: 4 years
Gender: Male
mri

MR images show bilateral occipital periventricular white matter signal abnormality showing characteristic triple layer appearance.

On post contrast study, the intermediate zone shows intense enhancement while the burnt out zone and peripheral zone show no enhancement.

Case Discussion

Features are characteristic of adrenoleukodystrophy (ALD)

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