Presentation
Developmental delay
Patient Data
Age: 5 years
Gender: Male
From the case:
Metachromatic leukodystrophy
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/76905/annotated_viewer_json?c=1669404486\u0026lang=us"}
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.
Unable to process the form. Check for errors and try again.