title: Galactosemia: evaluation with MR imaging.
abstract: The cerebral findings at magnetic resonance imaging in 67 transferase-deficient galactosemic patients (36 female, 31 male; median age, 10 years) are reported. Twenty-two patients had mild cerebral atrophy, eight had cerebellar atrophy, and 11 had multiple small hyperintense lesions in the cerebral white matter on T2-weighted images. The classic galactosemic patients (those without measurable transferase activity) older than 1 year of age did not show the normal dropoff in peripheral white matter signal intensity on intermediate- and T2-weighted images. The authors postulate that this abnormal signal intensity is due to altered myelin formation secondary to the inability to make sufficient and/or normal galactocerebroside.
authors.affiliation: Department of Radiology, Children's Hospital Los Angeles, CA 90027.
authors.forename: M D
authors.initials: MD
authors.lastname: Nelson
authors.forename: J A
authors.initials: JA
authors.lastname: Wolff
authors.forename: C A
authors.initials: CA
authors.lastname: Cross
authors.forename: G N
authors.initials: GN
authors.lastname: Donnell
authors.forename: F R
authors.initials: FR
authors.lastname: Kaufman
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001927:Brain Diseases / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010770:Phosphotransferases / Q000172:deficiency; D019998:Racemases and Epimerases / Q000172:deficiency; D014166:Transferases / Q000172:deficiency
chemical_list: D014166:Transferases; D010770:Phosphotransferases; D019998:Racemases and Epimerases; D005690:Galactose