Leukodystrophy in children: a pictorial review of MR imaging features

Radiographics. 2002 May-Jun;22(3):461-76. doi: 10.1148/radiographics.22.3.g02ma01461.


Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral nerves. Most of these disorders fall into one of three categories-lysosomal storage diseases, peroxisomal disorders, and diseases caused by mitochondrial dysfunction-and each leukodystrophy has distinctive clinical, biochemical, pathologic, and radiologic features. Magnetic resonance (MR) imaging has become the primary imaging modality in patients with leukodystrophy and plays an important role in the identification, localization, and characterization of underlying white matter abnormalities in affected patients. MR imaging has also been extensively used to monitor the natural progression of various white matter disorders and the response to therapy. Although the MR imaging features of leukodystrophy are often nonspecific, systematic analysis of the finer details of disease involvement may permit a narrower differential diagnosis, which the clinician can then further refine with knowledge of patient history, clinical testing, and metabolic analysis.

Publication types

  • Review

MeSH terms

  • Brain / pathology*
  • Child
  • Child, Preschool
  • Female
  • Hereditary Central Nervous System Demyelinating Diseases / pathology*
  • Humans
  • Infant
  • Lysosomal Storage Diseases, Nervous System / diagnosis
  • Magnetic Resonance Imaging*
  • Mitochondrial Encephalomyopathies / diagnosis
  • Peroxisomal Disorders / diagnosis