Brain MRI findings in aspartylglucosaminuria.

摘要: Summary Background and purpose The aim of this study was to identify characteristic 3.0 T brain MRI findings in patients with aspartylglucosaminuria (AGU), a rare lysosomal storage disorder. Previous AGU patient material imaged at 1.0 1.5 T also re-evaluated. Materials methods Twenty-five examinations from 20 were included the study. Thirteen underwent prospective (5 male, 8 female, aged 9–45 years). Twelve nine (4 5 8–33 years) previously or Two both retrospective groups. Visual analysis T1- T2-weighted images performed by two radiologists. Results reported signal intensity changes visible all field strengths, but they more distinct than 1.5 T. These decrease thalami especially pulvinar nuclei, periventricular increase juxtacortical high foci. Poor differentiation between gray white matter found patients. Some degree cerebral and/or cerebellar atrophy mild ventricular dilatation nearly This disclosed various unspecific findings, including higher normal incidence dilated perivascular spaces, arachnoid cysts, pineal cysts mildly cavum veli interpositi. Conclusion revealed particular AGU, which can raise suspicion disease clinical practice.