Leukodystrophy in Children: A Pictorial Review of MR Imaging Features

Abstract

Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral nerves. Most of these disorders fall into one of three categories-lysosomal storage diseases, peroxisomal disorders, and diseases caused by mitochondrial dysfunction-and each leukodystrophy has distinctive clinical, biochemical, pathologic, and radiologic features. Magnetic resonance (MR) imaging has become the primary imaging modality in patients with leukodystrophy and plays an important role in the identification, localization, and characterization of underlying white matter abnormalities in affected patients. MR imaging has also been extensively used to monitor the natural progression of various white matter disorders and the response to therapy. Although the MR imaging features of leukodystrophy are often nonspecific, systematic analysis of the finer details of disease involvement may permit a narrower differential diagnosis, which the clinician can then further refine with knowledge of patient history, clinical testing, and metabolic analysis.

Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment

“…Like BBGD, Leigh disease typically causes symmetric putaminal involvement, which may be associated with abnormalities of caudate nuclei, thalami, and brain stem; however, it less frequently involves the cerebral cortex and rarely involves the white matter. 16 In MELAS, the multiple cortical and subcortical infarctlike lesions that cross vascular boundaries are a distinctive feature. 16 In MERRF, the imaging findings are nonspecific.…”

“…16 In MELAS, the multiple cortical and subcortical infarctlike lesions that cross vascular boundaries are a distinctive feature. 16 In MERRF, the imaging findings are nonspecific. The cerebral and cerebellar white matter is reported to show patchy T2 prolongation on MR imaging.…”

Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution

“…The resulting inability to break down sulfatides leads to central and peripheral demyelination. 1 Three clinical subtypes based on the age of onset are well-recognized and are helpful, but those probably represent a continuum related, in part, to the actual magnitude of enzyme deficiency/residual enzyme activity, rather than truly different diseases. In order of frequency, the subtypes are the LI (60%), the juvenile form (which is further divided into an early onset before 6 years and later onset after 6 years) (20%-30%), and the adult form (10%-20%).…”

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

“…Pyramidal signs in the lower extremities became obvious and brain magnetic resonance imaging imaging at 2 years and 2 months of age showed leukodystrophy of deep white matter typical of MLD (Figure 1). 4 Reduced arylsulfatase A activity in leukocytes of the patient confirmed the diagnosis. Interestingly, the father and the sister had an B50% reduction in enzyme activity and were suspected carriers, however, the mother had normal enzyme activity ( Figure 2).…”