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Radiol Clin North Am. 2014 Mar;52(2):279-319. doi: 10.1016/j.rcl.2013.11.008.

Imaging manifestations of the leukodystrophies, inherited disorders of white matter.

Author information

1
Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address: edward.yang@childrens.harvard.edu.
2
Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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

PMID:
24582341
DOI:
10.1016/j.rcl.2013.11.008
[Indexed for MEDLINE]
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