CT and MRI in maple syrup urine disease

Neurology. 1988 Mar;38(3):486-8. doi: 10.1212/wnl.38.3.486.

Abstract

We describe a patient with a variant form of maple syrup urine disease who had unusual CT and MRI features that raised the suspicion of a metabolic disease. There were low density and abnormal signal in the white matter and pallida. Sponginess in these areas is the likely explanation for these findings.

Publication types

  • Case Reports

MeSH terms

  • Amino Acids, Branched-Chain / metabolism
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cells, Cultured
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Maple Syrup Urine Disease / diagnosis
  • Maple Syrup Urine Disease / diagnostic imaging*
  • Oxidation-Reduction
  • Tomography, X-Ray Computed*

Substances

  • Amino Acids, Branched-Chain