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
![](https://prod-images-static.radiopaedia.org/images/3431642/14c4c9b66a27493f8ec2e2bb46a2b40b2cd633aba42c8728d33f1cef9e785ca8_thumb.jpeg)
![This study is a stack](/packs/stack-YQKLCKBI.gif)
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![This study is a stack](/packs/stack-YQKLCKBI.gif)
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![](https://prod-images-static.radiopaedia.org/images/3431642/14c4c9b66a27493f8ec2e2bb46a2b40b2cd633aba42c8728d33f1cef9e785ca8_big_gallery.jpeg)
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.