title: Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment.
abstract: We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.
authors.affiliation: Department of Radiology, School of Medicine of the University of São Paulo, São Paulo, Brazil.
authors.forename: M C G
authors.initials: MC
authors.lastname: Otaduy
authors.forename: C C
authors.initials: CC
authors.lastname: Leite
authors.forename: M T C
authors.initials: MT
authors.lastname: Lacerda
authors.forename: M O R
authors.initials: MO
authors.lastname: Costa
authors.forename: F
authors.initials: F
authors.lastname: Arita
authors.forename: E
authors.initials: E
authors.lastname: Prado
authors.forename: S
authors.initials: S
authors.lastname: Rosemberg
mesh_terms: D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D005260:Female; D004376:Galactitol / Q000032:analysis* / Q000652:urine; D005693:Galactosemias / Q000175:diagnosis* / Q000178:diet therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy
chemical_list: D004376:Galactitol