• J Neuroimaging · Oct 2013

    Case Reports

    Unusual imaging findings in brain and spinal cord in two siblings with maple syrup urine disease.

    • Maya Bhat, Chandrajit Prasad, Parayil Sankaran Bindu, Zarina Aziz, Rita Christopher, and Jitender Saini.
    • National Institute of Mental Health & Neurosciences (NIMHANS) - Neuroimaging and Interventional Radiology, Bangalore, Karnataka, India.
    • J Neuroimaging. 2013 Oct 1;23(4):540-2.

    AbstractMaple syrup urine disease (MSUD) is a rare metabolic disease affecting the neural tissue. While the brain abnormalities present on MRI are well known, spinal imaging features have not been studied. We herewith report an unusual finding of enlarged Virchow Robin spaces in brain and novel spinal cord changes in two biochemically diagnosed cases of MSUD. To the best of our knowledge, spinal MRI findings in cases of MSUD have not been previously reported. Knowledge of spinal MRI findings may be useful in diagnosis of this rare disorder.Copyright © 2012 by the American Society of Neuroimaging.

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