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Journal of Pediatric Neuroradiology 2013; 02(01): 033-045
DOI: 10.3233/PNR-13045
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Primary leukodystrophies

Kim M. Cecil
a   Department of Radiology, Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA
b   Department of Pediatrics, Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA
c   Department of Neuroscience, Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA
d   Department of Environmental Health, Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA
,
Diana M. Lindquist
a   Department of Radiology, Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA
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Further Information

Publication History

14 April 2012

28 April 2012

Publication Date:
29 July 2015 (online)

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Abstract

The term leukodystrophy reflects diseases that are both progressive and genetically determined arising from a gene defect that manages production or metabolism of exclusively one component of myelin. These defects cause imperfect growth, development or maintenance of myelin sheaths. The magnetic resonance imaging and spectroscopic features of six primary leukodystrophies are described and illustrated in this review. This includes Alexander disease, Canavan’s disease, Childhood ataxia with central nervous system hypomyelination, Leukoencephalopathy with brain-stem and spinal cord involvement and elevated white matter lactate, Megalencephalic leukoencephalopathy with subcortical cysts, and Pelizaeus-Merzbacher disease.

Keywords

Brain - magnetic resonance spectroscopy - leukodystrophy - white matter disease - neuron - axons - myelin