Illustrative examples of MRIs of different leukodystrophies and of leukodystrophy mimics. Images are axial slices. A, T2 image of normal brain. B, T2 MRI image of VWM disease; arrow points to hypodense (dark color) white matter; arrowhead points to abnormal hyperintense (bright) white matter. C, T2 image of MLD, with hyperintense (bright) signal in the white matter (arrow). D, T2 image of a hypomyelinating leukodystrophy, PMD, in which the relative paucity of myelin is seen (red line, compare with normal MRI of A). E, T2 image of multiple sclerosis, with scattered areas of hyperintense signal (arrows). F, CT image of VWM disease; abnormal signal in white matter is present (arrow) but is much easier to see on MRI (B).
Abstract
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk of early death. This report includes a discussion of the types of leukodystrophies; their prevalence, clinical presentation, symptoms, and diagnosis; and current and future treatments. Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. Diagnosis is based on a combination of history, examination, and radiologic and laboratory findings, including genetic testing. Although there are few cures, there are significant opportunities for care and improvements in patient well-being. Rapid advances in imaging and diagnosis, the emergence of and requirement for timely treatments, and the addition of leukodystrophy screening to newborn screening, make an understanding of the leukodystrophies necessary for pediatricians and other care providers for children.
Read more at: https://pediatrics.aappublications.org/content/148/3/e2021053126
