Globoid Cell Leukodystrophy: Distinguishing Early- Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method

BACKGROUND AND PURPOSE: Our purpose was to determine the characteristic MR fea-tures of early-onset (before age 2 years) versus late-onset (after age 2 years) globoid cell leu-kodystrophy (GLD). METHODS: Thirty-four brain MR images in 22 patients with GLD were reviewed. A severity score (0 to 32), based on a point system derived from the location and extent of disease and the presence of focal and/or global atrophy, was calculated for each examination. RESULTS: Of the 22 patients, three were asymptomatic and 19 were symptomatic. Ten patients had early-onset disease, whereas nine had late-onset disease. MR images of all patients showed abnormalities. In the early-onset group (n 5 10; mean maximum MR score, 8.1; range, 3–18), 90 % had pyramidal tract involvement, 80 % had cerebellar white matter involvement, 70 % had deep gray matter involvement, 60 % had posterior corpus callosal involvement, 50% had parietooccipital white matter involvement, and 40 % had cerebral atrophy. Serial MR imaging in four of these patients revealed progressive disease. In the late-onset group (n 5 9; mean maximum MR score, 5.6; range, 4–10), 100 % had pyramidal tract involvement, 100% had parietooccipital white matter involvement, 89 % had posterior corpus callosal involvement