title: Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings.
abstract: OBJECTIVE
  To investigate the influence of aging on conventional MRI and magnetic resonance spectroscopy (MRS) findings of mucopolysaccharidosis (MPS) patients and to test the correlation of enzyme levels, urinary glycosaminoglycans (GAG), and neuroimaging findings.
  
  
  METHODS
  Sixty patients with MPS types I (n = 8), II (n = 31), IV-A (n = 4), and VI (n = 17) underwent T2, fluid-attenuated inversion recovery (FLAIR), and MRS of the brain. For analysis of MRI variables, we measured the normalized cerebral volume (NCV), CSF volume (NCSFV), ventricular volume (NVV), and lesion load (NLL) on FLAIR using semiautomated and automated segmentation techniques. For MRS, a point-resolved spectroscopy technique was used. Voxels were positioned at the white and gray matter. Statistical analysis involved Pearson or Spearman tests for correlation between neuroimaging, age, enzyme levels, and urinary GAG.
  
  
  RESULTS
  The median age at onset of the disease was 20 months. Patients with longer disease duration had more NLL in the white matter (r = 0.28, p = 0.03), and this difference was more pronounced in MPS II patients (r = 0.44, p = 0.02). Metabolites ratios in MRS, NCV, NCSFV, and NVV did not correlate with disease duration or age of the patients (p > 0.05). MRI and MRS variables in either the white or the gray matter did not correlate with enzymatic activity or GAG levels. Patients with MPS II had a lower mean NCV (p < 0.001).
  
  
  CONCLUSIONS
  Our data showed that white matter lesion is more extensive as disease duration increases, especially in mucopolysaccharidosis type II patients. MRI and magnetic resonance spectroscopy findings did not correlate with either enzymatic or glycosaminoglycan levels.
authors.affiliation: Neuroradiology Department, Mãe de Deus Center and Hospital Mãe de Deus, Porto Alegre, Brazil. leonardovedolin@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Vedolin
authors.forename: I V D
authors.initials: IV
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Komlos
authors.forename: A
authors.initials: A
authors.lastname: Schuch
authors.forename: A C
authors.initials: AC
authors.lastname: Azevedo
authors.forename: T
authors.initials: T
authors.lastname: Vieira
authors.forename: F K
authors.initials: FK
authors.lastname: Maeda
authors.forename: A M
authors.initials: AM
authors.lastname: Marques da Silva
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000375:Aging / Q000473:pathology*; D001921:Brain / Q000378:metabolism* / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004798:Enzymes / Q000097:blood; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009083:Mucopolysaccharidoses / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D016532:Mucopolysaccharidosis II / Q000097:blood / Q000175:diagnosis / Q000652:urine; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D011237:Predictive Value of Tests
chemical_list: D004798:Enzymes; D006025:Glycosaminoglycans