Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1 |
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Authors: | K. K. Oguz A Ozturk A Cila |
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Affiliation: | (1) Department of Radiology, Faculty of Medicine, Hacettepe University, 06100 Sihhiye Ankara, Turkey |
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Abstract: | Although conventional magnetic resonance imaging (MRI) findings of glutaric aciduria type 1 (GA-1) have been well established, diffusion weighted MR imaging (DWI) and proton MR spectroscopy (MRS) findings are limited. We report widespread restricted diffusion in the white matter and increased diffusion in bilateral putamen in a case of GA-1. The MRS showed decreased N-acetyl-aspartate (NAA)/creatine (Cr) ratio compared with a sex and age-matched control with no significant change in choline (Cho)/Cr ratio. The presence of the lactate peak reflecting disturbed mitochondrial functions in this disease has never been reported. |
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Keywords: | Glutaric aciduria type 1 Magnetic resonance imaging Diffusion-weighted MR imaging Proton magnetic resonance spectroscopy |
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