Imaging manifestations of the leukodystrophies, inherited disorders of white matter

Edward Yang; Sanjay P Prabhu

doi:10.1016/j.rcl.2013.11.008

Imaging manifestations of the leukodystrophies, inherited disorders of white matter

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

Authors

Edward Yang¹, Sanjay P Prabhu²

Affiliations

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.

PMID: 24582341
DOI: 10.1016/j.rcl.2013.11.008

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.

Publication types

Review

MeSH terms

Diagnosis, Differential
Hereditary Central Nervous System Demyelinating Diseases / diagnosis*
Hereditary Central Nervous System Demyelinating Diseases / pathology
Humans
Magnetic Resonance Imaging / methods*
Nerve Fibers, Myelinated / pathology*