Maple syrup urine disease
1 month old baby boy with an uneventful antenatal and partal period developed abnormal posturing of all four limbs and extension of neck on day 4. In view of metabolic acidosis detected on arterial blood gas, a provisional diagnosis of metabolic encephalopathy was considered. An MRI study was asked for.
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Delay in myelination with diffusion restriction seen involving bilateral corona radiata, posterior limbs of internal capsule, thalami, mid brain, cerebellar peduncles and pons/medulla.
A possibility of dysmyelination was suggested.
Metabolic work up confirmed a diagnosis of maple syrup urine disease.
- Jan W, Zimmerman RA, Wang ZJ et-al. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology. 2003;45 (6): 393-9. Pubmed citation