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Updated: Jul 5, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Pediatric neurodegenerative white matter processes: leukodystrophies and beyond
Jonathan A Phelan1, Lisa H Lowe, Charles M Glasier
1Department of Radiology, Kansas City University of Medicine and Biosciences, University of Missouri-Kansas City, and The Children's Mercy Hospital and Clinics, 1750 Independence Ave., Kansas City, MO 64106, USA. jphelan@kcumb.edu
Insights
This review guides radiologists in differentiating pediatric neurodegenerative white matter disorders. It focuses on distinguishing congenital metabolic leukodystrophies from other white matter conditions using neuroimaging.
Area of Science:
- Neurology
- Radiology
- Pediatrics
Background:
- Pediatric neurodegenerative white matter processes are diverse, stemming from causes like injury, inflammation, or metabolic disorders.
- Accurate diagnosis is crucial for appropriate management and treatment of these complex conditions.
Purpose of the Study:
- To provide a systematic approach for radiologists evaluating neurodegenerative white matter disorders in children.
- To differentiate congenital metabolic leukodystrophies from other white matter pathologies.
Main Methods:
- Review of neuroimaging findings in pediatric white matter diseases.
- Discussion of differential diagnoses for white matter abnormalities.
- Classification strategies for leukodystrophies.
Main Results:
- Outlines a general diagnostic pathway for neurodegenerative white matter disorders.
- Highlights key imaging features to distinguish metabolic leukodystrophies from mimics.
- Presents an approach to classifying various white matter leukodystrophies.
Conclusions:
- A structured approach aids in the accurate diagnosis of pediatric white matter disorders.
- Distinguishing metabolic leukodystrophies from other white matter processes is a critical first step in neuroimaging interpretation.
Abstract:
Pediatric neurodegenerative white matter processes are complex, numerous and result from a vast array of causes ranging from white matter injury or inflammation to congenital metabolic disorders. When faced with a neurodegenerative white matter process on neuroimaging, the first step for the radiologist is to determine whether the findings represent a congenital metabolic leukodystrophy or one of various other white matter processes. In this review we first describe a general approach to neurodegenerative white matter disorders. We will briefly describe a few white matter diseases that mimic metabolic leukodystrophies. In the second half of the review we discuss an approach to distinguishing and classifying white matter leukodystrophies.
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