Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II

BACKGROUND AND PURPOSE: There are no reliable markers to predict neurologic outcome of patients with mucopolysacchariclosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI) in MPS II. MATERIALS AND 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 Cl (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 WIM 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 WIM lesions than patients from group B (P =.022). Patients from group A also had a higher myo-inositol (mlns)/creatine (Cr) ratio in the GM (P =.046) and in the WIM (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 Cl.