Maple syrup urine disease
Presentation
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.
Patient Data
Age: 1 month
Gender: Male
From the case:
Maple syrup urine disease
MRI
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Axial DWI
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.
Case Discussion
Metabolic work up confirmed a diagnosis of maple syrup urine disease.
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