Two patients with phenylketonuria are reported with white matter lesions. Diffusion magnetic resonance (MR) imaging revealed restricted diffusion patterns (high signal) on b = 1000 s/mm2 images associated with low apparent diffusion coefficient values ranging between 0.44 x 10-3 mm2/s and 0.56 x 10-3 mm2/s. On proton MR spectroscopy obtained in 1 of the patients, a prominent peak resonating at approximately 3.80 ppm was consistently present attributable to the peak rising from the alpha-proton of the phenylalanine molecule.
Adult Brain