Imaging manifestations of the leukodystrophies, inherited disorders of white matter

Abstract

The leukodystrophies are a diverse set of inherited white matter disorders and are uncommonly encountered by radiologists in everyday practice. As a result, it is challenging to recognize these disorders and to provide a useful differential for the referring physician. In this article, leukodystrophies are reviewed from the perspective of 4 imaging patterns: global myelination delay, periventricular/deep white matter predominant, subcortical white matter predominant, and mixed white/gray matter involvement patterns. Special emphasis is placed on pattern recognition and unusual combinations of findings that may suggest a specific diagnosis.

Keywords: Demyelination; Dysmyelination; Inborn error of metabolism; Leukodystrophy; Spectroscopy; White matter.