Glutaric aciduria

Case contributed by Dr Ahmed Abd Rabou

Presentation

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

Patient Data

Age: 9 months old
Gender: Female
Modality: MRI

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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Case Information

rID: 23159
Case created: 25th May 2013
Last edited: 24th Feb 2016
Inclusion in quiz mode: Included

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