Presentation
Deteriorated mental and motor milestones and history of fever few weeks prior.
Patient Data
Age: 9 months
Gender: Female
From the case:
Glutaric aciduria
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Enlargement of both basal ganglia associated with abnormal signal in form of diffusion restriction and low ADC, low T1 and high T2 signal intensity. The abnormal signal involves also the dentate nuclei and subcortical white matter of both cerebral hemispheres.
Case Discussion
The case was initially interpreted as ADEM versus viral encephalitis which may simulate glutaric aciduria in presentation. Metabolic acidosis was found in patient's blood and organic acids in the urine which confirm the diagnosis of glutaric aciduria. The patient was on assisted ventilation and, unfortunately, died shortly after.
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