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Metachromatic leukodystrophy

Case contributed by Ghazale Jamalipour Soufi
Diagnosis probable

Presentation

Developmental delay

Patient Data

Age: 5 years
Gender: Male
mri

There are butterfly-shaped bilateral symmetrical and confluent areas of periventricular and deep white matter T2/FLAIR high signal intensity with subcortical U fibers sparing, and pyramidal tracts and infratentorial white matter involvement. The lesions show restricted diffusion.

Case Discussion

Metachromatic luekodystrophy (MLD) is a dysmyelinating disease with autosomal recessive inheritance.

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