Presentation
seizures, hypoglycemia, suspected inborn error of metabolism.
Patient Data
Age: 10 days
Gender: Female
From the case:
Maple syrup urine disease
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Nearly symmetrical areas of diffusion restriction are seen involving centrum semiovale, perirolandic white matter, posterior limbs of both internal capsules, bilateral thalami, brainstem, and bilateral cerebellar white matter.
The ventricular system is compressed due to edema.
The pituitary gland is hyperintense on T1, normal for age (likely due to the effect of maternal hormones).
Case Discussion
The above findings suggest the possibility of maple syrup urine disease. The child also had a characteristic maple syrup-smelling urine. The diagnosis was confirmed by the toxic metabolic screen.
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