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Adrenoleukodystrophy (ALD)

Case contributed by: Dr Bhaven Shah

Presentation:

Visual disturbances

Patient Data:

Age: 4 years
Gender: Male
Race: Indian/Pakistani

Case Discussion:

4 year old male patient presented with gradular onset of reduction in vision in both eyes.

No significant regression of milestones noted.

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.

Features are characteristic of adrenoleukodystrophy (ALD)

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