Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging

  • Ramakrishna Narra
  • P Bhimeswara Rao
  • B Johny Prasad
  • Anusha Putcha

Abstract

Maple syrup urine disease (MSUD)/leucine encephalopathy is an inborn error of amino acid metabolism resulting in neurotransmitter depletion, disrupted brain growth and development. Magnetic resonance (MR) with diffusion-weighted imaging is the best imaging tool during hyperacute and acute phases. We report a case of a child who was presented with global developmental delay and foul smelling of urine and diagnosed as MSUD with typical MR imaging findings and laboratory findings.

Keywords: Branched-chain amino acids, Diffusion-weighted magnetic resonance imaging, Maple syrup urine disease
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How to Cite
Narra, R., Rao, P. B., Prasad, B. J., & Putcha, A. ( ). Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging. Indian Journal of Case Reports, 4(6), 463-465. https://doi.org/https://doi.org/10.32677/IJCR.2018.v04.i06.017
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Case Report