Presentation
Posturing of all four limbs and extension of neck on day 4. Metabolic acidosis detected on arterial blood gas, a provisional diagnosis of metabolic encephalopathy was considered. No significant ante - or post natal clinical history.
Patient Data
Age: Neonate
Gender: Male
From the case:
Maple syrup urine disease
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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.
Case Discussion
Metabolic work up confirmed a diagnosis of maple syrup urine disease.
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