title: Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.
abstract: OBJECTIVE
  There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI) in MPS II.
  
  
  METHODS
  Nineteen male patients with MPS II were included in this study. They were evaluated through intelligence/developmental tests to be classified in 2 groups: patients with CI (group A) or patients without CI (group B). Brain MR imaging evaluated white matter (WM) lesions, hydrocephalus, and brain atrophy. Voxels from MR spectroscopy (point-resolved spectroscopy TE 30 ms) were positioned in the WM of the deep right frontal lobe and at the gray matter (GM) in the posterior occipital cortex across the midline. Comparison of MR imaging and MR spectroscopy findings between these 2 groups and a control group was performed.
  
  
  RESULTS
  The mean age of the patients was 9.6 years (group A, 7.08 years old, 12 patients; group B, 14 years old, 7 patients; P = .076). Brain atrophy and hydrocephalus were more frequently found in group A patients (P=.006 and P=.029, respectively); these patients also presented more severe WM lesions than patients from group B (P=.022). Patients from group A also had a higher myo-inositol (mIns)/creatine (Cr) ratio in the GM (P=.046) and in the WM (P=.032). The choline/Cr and N-acetylaspartate/Cr ratios were similar in both groups.
  
  
  CONCLUSIONS
  Our study showed that severe WM lesions, brain atrophy, hydrocephalus, and elevated mIns/Cr were more common in patients with MPS II and with CI.
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: Puga
authors.forename: L L C
authors.initials: LL
authors.lastname: Pinto
authors.forename: A P
authors.initials: AP
authors.lastname: Pires
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis* / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000378:metabolism*; D013223:Statistics as Topic