Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.

[krabbe disease]

Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype .This was a retrospective , nonblinded study . Families /patients diagnosed with Krabbe disease submitted medical records and magnetic resonance imaging discs for central review . Institutional review board approval /informed consents were obtained . Sixty -four magnetic resonance imaging scans were reviewed by two neuroradiologists and a child neurologist according to phenotype : early infantile (onset 0 -6 months ) = 39 patients ; late infantile (onset 7 -12 months ) = 10 patients ; later onset (onset 13 months -10 years ) = 11 patients ; adolescent (onset 11 -20 years ) = one patient ; and adult (21 years or greater ) = three patients . Local interpretations were compared with central review .Magnetic resonance imaging abnormalities differed among phenotypes . Early infantile patients had a predominance of increased intensity in the dentate /cerebellar white matter as well as changes in the deep cerebral white matter . Later onset patients did not demonstrate involvement in the dentate /cerebellar white matter but had extensive involvement of the deep cerebral white matter , parieto-occipital region , and posterior corpus callosum . Late infantile patients exhibited a mixed pattern ; 40 % had dentate /cerebellar white matter involvement while all had involvement of the deep cerebral white matter . Adolescent /adult patients demonstrated isolated corticospinal tract involvement . Local and central reviews primarily differed in interpretation of the early infantile phenotype .Analysis of magnetic resonance imaging in a large cohort of symptomatic patients with Krabbe disease demonstrated imaging abnormalities correspond to specific phenotypes . Knowledge of these patterns along with typical clinical signs /symptoms should promote earlier diagnosis and facilitate treatment .