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

Journal Title: Indian Journal of Case Reports - Year 2018, Vol 4, Issue 6

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.

Authors and Affiliations

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

Keywords

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  • EP ID EP521453
  • DOI -
  • Views 134
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How To Cite

Ramakrishna Narra, P Bhimeswara Rao, B Johny Prasad, Anusha Putcha (2018). Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging. Indian Journal of Case Reports, 4(6), 463-465. https://europub.co.uk/articles/-A-521453