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Case report of neuroradiological imaging - Maple syrup urine disease

Author:

Masudi Sheetal, Vishal, S., Nimbal, Satish Patil, Praveen M. M. and Saurabh Rathi

Subject Area:

Health Sciences

Abstract:

Maple Syrup Urine Disease (MSUD) is a rare inherited autosomal recessive disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. It can present with life-threatening cerebral edema and dysmyelination in affected individuals. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We report diffusion-weighted imaging (DWI) findings in a newborn child with MSUD who presented with acute metabolic encephalopathic crisis.

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