Maple syrup urine disease

Case contributed by Dr Varun Babu

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
Modality: 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
Case created: 22nd May 2013
Last edited: 2nd Oct 2015
Inclusion in quiz mode: Included

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