Fenilchetonuria: Studio RM a 3,0 T delle alterazioni della sostanza bianca con imaging di base, di spettroscopia e di diffusione

Translated title of the contribution: Phenylketonuria: White-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion

T. Scarabino, T. Popolizio, M. Tosetti, D. Montanaro, G. M. Giannatempo, R. Terlizzi, S. Pollice, A. Maiorana, N. Maggialetti, A. Carriero, V. Leuzzi, U. Salvolini

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: This study evaluated the sensitivity of a 3.0-Tesla (T) magnetic resonance imaging (MRI) in measuring cerebral phenylalanine using proton magnetic resonance spectroscopy and in assessing MR-documented white-matter changes by means of diffusion studies (diffusion-weighted imaging, apparent diffusion coefficient map; diffusion tensor imaging) in patients with phenylketonuria. Materials and methods: Thirty-two patients with the classical clinical and biochemical deficits of phenylketonuria underwent biochemical (blood phenylalanine), genotypic (phenylalanine hydroxylase gene) and radiological investigation by means of MRI, proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging with a 3.0-T scanner. Results: Periventricular and subcortical white-matter changes were detected on all MR scans. In 29/32 patients, proton magnetic resonance spectroscopy easily documented abnormal signal elevation at 7.36 ppm, corresponding to phenylalanine, despite its low concentration. Phenylalanine signal amplitude relative to the creatine/phosphocreatine signal increased linearly with blood phenylalanine values (r 0.7067; p

Translated title of the contributionPhenylketonuria: White-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion
Original languageItalian
Pages (from-to)461-474
Number of pages14
JournalRadiologia Medica
Volume114
Issue number3
DOIs
Publication statusPublished - Apr 2009

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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