Glutaric aciduria

Case contributed by Ahmed Abdrabou
Diagnosis certain


Deteriorated mental and motor milestones and history of fever few weeks prior.

Patient Data

Age: 9 months
Gender: Female

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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