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 CASE REPORT
Year : 2018  |  Volume : 13  |  Issue : 1  |  Page : 103-105

Imaging findings in maple syrup urine disease: A case report


Division of Neuroradiology, Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA

Correspondence Address:
Dr. Anjaneya S Kathait
Division of Neuroradiology, Department of Radiology, Room 3326, Old Infirmary Building, University of North Carolina School of Medicine, Manning Drive, Chapel Hill, NC 27599-7510
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_38_17

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Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism. It is characterized by accumulation of BCAAs and corresponding branched-chain keto acids of leucine, isoleucine, and valine in plasma, urine, and cerebrospinal fluid. Leucine is toxic to brain cells, leading to cytotoxic edema affecting the myelinated white matter, and involving the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem, and cerebellum. We present a neonate with the classic subtype of MSUD and its imaging features on magnetic resonance imaging.






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