Maple syrup urine disease

Case contributed by Dr Mohammad A. ElBeialy


Newborn baby of consanguineous marriage presenting with poor feeding, lethargy and seizures.

Patient Data

Age: 10 days
Gender: Male

MRI Brain


Bilateral rather symmetrical white matter T2 & FLAIR hyperintensities with subtle T1 hypointensity are seen in the corticospinal tracts within the centrum semiovale and corona radiata, and in the posterior limb of internal capsule, thalami, midbrain, pons and medulla oblongata, the scanned upper cervical cord, as well as the cerebellar white matter.

Restricted diffusion is seen in these lesions with high DWI and low ADC signal indicative of cytotoxic; likely intramyelinic edema.

Case Discussion

Maple syrup urine disease (MSUD) is an inherited autosomal recessive brain dysmyelinating disorders due to enzymatic deficiency of branched-chain alpha-ketoacid dehydrogenase enzyme complex leading to errors in the metabolism of the branched-chains amino acids (leucine, isoleucine and valine) with their accumulation in the urine (hence the name: Maple syrup urine related to the sweetish odor of the urine) and blood.  Branched-chains amino acids (BCAA) are cytotoxic to the brain cells leading to vacculated myelinopathy and cytotoxic brain edema.  

Specific imaging is related to Maple syrup urine disease (MSUD) edema involving the white matter. MR spectroscopy typically shows branched-chain amino-acids and alpha-keto acids with their resonances at 0.9-1.0 ppm.  

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