Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain

In a 5-month-old boy with tyrosinemia, computed tomography revealed diffuse hypodensity in the centrum semiovale. Magnetic resonance (MR) imaging revealed partial signal differences in the white matter and perirolandic regions, and the posterior limbs of the internal capsules revealed higher signal compared with the remainder of the white matter. There were high-signal changes (restricted water diffusion) in the corresponding regions on images of diffusion-weighted MR imaging (b = 1000 s/mm). This likely represented the presence of intramyelinic edema attributable to status spongiosus. Proton MR spectroscopy (repetition time = 1500 milliseconds, echo time = 40 milliseconds) from the lesion sites revealed 2 separate prominent peaks spread between 3.4 and 3.9 ppm. These peaks could represent the CH and CH2 aliphatic protons of the tyrosine molecule.