Metachromatic leukodystrophy

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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Case information

rID: 67507
Published: 13th Apr 2019
Last edited: 16th Apr 2019
Inclusion in quiz mode: Included
Institution: Isfahan University of Medical Sciences

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