Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria.

摘要: BACKGROUND AND PURPOSE: Aspartylglucosaminuria is a rare lysosomal storage disorder that causes slowly progressive, childhood-onset intellectual disability and motor deterioration. Previous studies have shown, for example, hypointensity in the thalami patients with aspartylglucosaminuria on T2WI, especially pulvinar nuclei. Susceptibility-weighted imaging neuroimaging technique uses tissue magnetic susceptibility to generate contrast able visualize iron other mineral deposits brain. SWI findings not been reported previously. MATERIALS METHODS: Twenty-one (10 girls; 7.4–15.0 years of age) underwent 3T MR imaging. The protocol included an sequence, images were visually evaluated. Thirteen (6 girls, had good-quality SWI. Eight motion artifacts excluded from visual analysis. healthy children (8 7.3–14.1 imaged as controls. RESULTS: We found considerably uniform distribution decreased signal intensity thalamic nuclei 13 aspartylglucosaminuria. most evident was Patchy hypointensities also medial anterior Moreover, some noted globi pallidi substantia nigra older patients. filtered-phase indicated accumulation paramagnetic compounds these areas. No abnormal seen CONCLUSIONS: indicates finding may raise suspicion this disease clinical practice.