Presentation
Poor feeding, hypoglycaemia.
Patient Data
Age: 10 days
Gender: Male
From the case:
Maple syrup urine disease
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Nearly symmetrical areas of diffusion restriction involving centrum semiovale, perirolandic white matter, posterior limbs of both internal capsules, bilateral thalami, brainstem and bilateral cerebellar white matter.
Possible microhaemorrhages in bilateral cerebellar hemispheres.
Case Discussion
Findings are consistent with maple syrup urine disease. The child had an elder sibling who passed away due to the same inborn error of metabolism.
Toxic metabolic screen was suggestive of the same and genetic exome sequencing confirmed the diagnosis.
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