Japanese journal of radiology
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Case Reports
Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis.
Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine. We report diffusion-weighted imaging (DWI) findings in a newborn child with MSUD who presented with acute metabolic encephalopathic crisis. ⋯ The presence of these findings was considered cytotoxic or intramyelinic edema evidenced by restricted water diffusion. In conclusion, our findings suggest that during the acute phase and early encephalopathic crisis stage of MSUD, DWI can demonstrate the involvement of myelinated WM in newborns.