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Twenty-year-old male with epilepsy and learning disability, with X-linked creatine transporter deficiency. (a) Axial T2WI of the brain is unremarkable. (b) SV short TE MRS over the left parietal white matter reveals Cr levels significantly below normal (~10–20% of normal at 3 and 3.9 ppm). NAA and Cho within normal limits.
