This is a metabolic encephalopathy of childhood with widespread demyelination of white matter with inflammatory reaction and atrophy of the adrenal cortex. The classical form presents with onset between 5 and 10 years of age as a sex-linked recessive inheritance pattern. Clinical presentation is typically a young boy previously in good health with behavior problems and compromise of vision, hearing, and intellectual function. Visual and hearing impairment are characteristic features with frequent involvement of white matter adjacent to the medial and lateral geniculate bodies and auditory and visual pathways.

Radiologic features include white matter involvement in the parieto-occipitotemporal regions. Frequently, there is peripheral rim enhancement along the advancing anterior edge of the disease. The enhancement correlates with the active phase of the disease. Calcifications are infrequently identified on CT scans. Mass effect is not noted, but atrophy is a typical finding as the disease progresses. Atypical patterns of white matter involvement have been described with predilection for the frontal region or asymmetrical involvement of the hemispheres.

White matter changes are caused by an excess accumulation of long chain fatty acids. The associated adrenal dysfunction may be partial (only elevation of ACTH). The adrenal dysfunction may precede the neurological manifestations.