Maple syrup urine disease

Case contributed by Dr Varun Babu

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
MRI

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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Case information

rID: 23101
Published: 22nd May 2013
Last edited: 3rd Dec 2019
Inclusion in quiz mode: Included

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