Presentation
Suspcected inborn error of metabolsim
Patient Data
Age: 13 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. Diffusion restriction is also seen involving optic chiasma and optic tracts.
Ventricular system is compressed due to edema.
Case Discussion
Based on the imaging findings, a possibility of maple syrup urine disease was raised, confirmed with further laboratory investigations.
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