Serial MR Images and MRS Following Treatment in a Newborn with Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) is a rare autosoma l recessive metabolic disorder affecting branched-chain amino acids. We report a newborn with MSUD established by neonatal metabolic screening at 2 days old which showed elevation of plasma level of leucine/isoleucine and valine. The magnetic resonance (MR) imaging at 16 days old revealed typical finding of high signal intensity lesions within the myelinated white matter areas on T2-weighted and diffusion-weighted images( DWI ), Proton MR Spectroscopy (MRS) showed elevation of lactate (1.3 ppm) and BCAA/BCKA (0.9 ppm) peaks. The MRS findings in our case were well-corresponded to the change of serum levels of leucine, isoleucine, and valine by serial MR images and laboratory data following treatment. MR images and MRS provided specific diagnosis of MSUD and effective monitoring of the response following treatment and dietary restriction.