Glutaric aciduria

Case contributed by Aneesh Km
Diagnosis probable

Patient Data

Age: 3 months
Gender: Male
mri

Swollen and edematous basal ganglia with abnormal T2 prolongation and diffusion restriction.

T2 prolongation and diffusion restriction also noted in bilateral cerebral peduncles.

Mild symmetric prominence of bilateral Sylvian fissures.

Case Discussion

Case of glutaric aciduria with metabolic acidosis and hyperammonemia.

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