Imaging of Inborn Errors of Metabolism
his package contains the slides from the YouTube video “Imaging of Inborn Errors of Metabolism.”
The slides are available in three PDF formats:
- Full-size slides – One slide per page, great for viewing on screen
- Handout version – Six slides per page, ideal for quick review
- Note-taking version – Three slides per page with space for your own notes
A structured and practical guide to recognizing and analyzing imaging findings in inborn errors of metabolism (IEMs). Key topics covered include:
- Hypomyelinating disorders such as Pelizaeus-Merzbacher syndrome
- Leukodystrophies including Metachromatic leukodystrophy, Krabbe disease, and X-linked adrenoleukodystrophy
- Vanishing white matter disease and L2-OH glutaric aciduria
- IEMs with macrocephaly like Alexander and Van der Knaap disease.
- Acute encephalopathy presentations: Leigh syndrome, MELAS, MSUD, Methylmalonic acidemia, and Glutaric aciduria type 1
Rather than memorize rare patterns, this talk focuses on how to analyze metabolic disorders in a structured way, boosting your diagnostic confidence and sharpening your differential skills.
Filled with radiological examples and clear didactic illustrations.
Perfect for radiologists, pediatricians, neurologists, and trainees dealing with complex neurodevelopmental and metabolic brain disorders.
📺 Link to the YouTube videos:
Imaging of Inborn Errors of Metabolism... made easy
Imaging of Leukodystrophies (part 1): Alexander disease, Canavan disease and Van Der Knaap Disease
