title: MRS findings in a patient with juvenile-onset Alexander's leukodystrophy.
abstract: Alexander's leukodystrophy is a rare cerebral white matter disorder with an onset that can be infantile, juvenile, or occur in the adult years. It is thought to be demyelinative, but the pathogenesis is ill-defined. We report a 24-year-old woman with juvenile-onset Alexander disease, of 12 years duration, who underwent magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) serially as part of her care. The patient's latest MRI showed periventricular-increased signal intensity on T2 and fluid attenuation and inversion recovery sequences, which appeared stable when compared to her first study seven years ago. MRS revealed an elevated choline/creatine ratio with relative suppression of the n-acetyl aspartate peak, also similar to her previous MRS findings. MRS also showed elevation of myoinositol levels, best demonstrated with the short echo-time spectra. These findings support the primarily demyelinative characteristics of this leukodystrophy and may provide a surrogate marker of disease progression, as well as a potential response to therapeutic intervention when this becomes available.
authors.affiliation: Department of Radiology, Tulane University School of Medicine, USA.
authors.forename: Alexis
authors.initials: A
authors.lastname: Nelson
authors.forename: Roger E
authors.initials: RE
authors.lastname: Kelley
authors.forename: Jeremy
authors.initials: J
authors.lastname: Nguyen
authors.forename: Enrique
authors.initials: E
authors.lastname: Palacios
authors.forename: Harold R
authors.initials: HR
authors.lastname: Neitzschman
mesh_terms: D000328:Adult; D001741:Black or African American; D038261:Alexander Disease / Q000175:diagnosis* / Q000503:physiopathology*; D001921:Brain / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging