Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion

摘要: This study evaluated the sensitivity of a 3.0-Tesla (T) magnetic resonance imaging (MRI) in measuring cerebral phenylalanine using proton spectroscopy and assessing MR-documented white-matter changes by means diffusion studies (diffusion-weighted imaging, apparent coefficient map; tensor imaging) patients with phenylketonuria. Thirty-two classical clinical biochemical deficits phenylketonuria underwent (blood phenylalanine), genotypic (phenylalanine hydroxylase gene) radiological investigation MRI, 3.0-T scanner. Periventricular subcortical were detected on all MR scans. In 29/32 patients, easily documented abnormal signal elevation at 7.36 ppm, corresponding to phenylalanine, despite its low concentration. Phenylalanine amplitude relative creatine/phosphocreatine increased linearly blood values (r 0.7067; p<0.001). Diffusion MRI demonstrated hyperintensity areas exhibiting as well decreased values, but fractional anisotropy indices normal. The high signal, together better spectral, spatial, contrast temporal resolution, makes most suitable technique particular, multimodal approach can provide more information than previous performed low-field systems.