title: MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.
abstract: OBJECTIVE
  Sjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to characterize the nature of the cerebral involvement in SLS.
  
  
  METHODS
  MR imaging was performed in 18 patients (aged 5 months to 45 years) and repeated in 14. Single-voxel proton MR spectra were acquired from cerebral white matter and gray matter in 16 patients, with follow-up studies in 11. LCModel fits were used to determine brain metabolite levels.
  
  
  RESULTS
  MR imaging showed retardation of myelination and a mild persistent myelin deficit. A zone of increased signal intensity was seen in the periventricular white matter on T2-weighted images. Proton MR spectroscopy of white matter revealed a prominent peak at 1.3 ppm, normal levels of N-acetylaspartate, and elevated levels of creatine (+14%), choline (+18%), and myo-inositol (+54%). MR imaging and proton MR spectroscopy of gray matter were normal. In the two patients examined during the first years of life, abnormalities on MR imaging and proton MR spectroscopy gradually emerged and then stabilized, as in all other patients.
  
  
  CONCLUSIONS
  Abnormalities on MR imaging and proton MR spectroscopy emerge during the first years of life and are similar in all patients with SLS, but the severity varies. The changes are confined to cerebral white matter and suggest an accumulation of lipids, periventricular gliosis, delayed myelination, and a mild permanent myelin deficit.
authors.affiliation: Department of Pediatric Neurology, University Medical Center Nijmegen, the Netherlands.
authors.forename: Michèl A A P
authors.initials: MA
authors.lastname: Willemsen
authors.forename: Marinette
authors.initials: M
authors.lastname: Van Der Graaf
authors.forename: Marjo S
authors.initials: MS
authors.lastname: Van Der Knaap
authors.forename: Arend
authors.initials: A
authors.lastname: Heerschap
authors.forename: Peter H M F
authors.initials: PH
authors.lastname: Van Domburg
authors.forename: Fons J M
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: Jan J
authors.initials: JJ
authors.lastname: Rotteveel
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D002552:Cerebral Ventricles / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D018450:Disease Progression; D004734:Energy Metabolism / Q000235:genetics / Q000502:physiology*; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D007294:Inositol / Q000378:metabolism; D050356:Lipid Metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology / Q000502:physiology; D009413:Nerve Fibers, Myelinated / Q000502:physiology; D009460:Neurologic Examination; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
chemical_list: D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline