title: Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.
abstract: BACKGROUND
  Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neuroradiology, Roswell Park Cancer Institute, Buffalo, New York.
authors.forename: Ahmed N
authors.initials: AN
authors.lastname: Abdelhalim
authors.affiliation: Department of Biostatistics, Population Health Observatory, University at Buffalo, Buffalo, New York.
authors.forename: Ronald A
authors.initials: RA
authors.lastname: Alberico
authors.affiliation: Department of Biostatistics, Population Health Observatory, University at Buffalo, Buffalo, New York.
authors.forename: Amy L
authors.initials: AL
authors.lastname: Barczykowski
authors.affiliation: Department of Neurology, Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, New York. Electronic address: duffner@buffalo.edu.
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Duffner
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D054022:Cerebrum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011712:Pyramidal Tracts / Q000473:pathology; D012189:Retrospective Studies; D055815:Young Adult
keywords: Krabbe disease; Krabbe phenotypes; MRI; age-related findings; magnetic resonance imaging