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Glutaric aciduria type 1

Case contributed by Kanwal Laique
Diagnosis possible

Presentation

Fever and fits.

Patient Data

Age: Six months old
Gender: Female
mri

Bilateral hypoplastic temporal lobes with enlarge subarachnoid spaces anteriorly.

Widened/square shaped sylvian fissures due to under operculization.

Bilateral abnormal hyperintense signal return from basal ganglia, periventricular and subcortical white matter on T2WI. 

Case Discussion

Glutaric aciduria type 1 has variable clinical presentation. Laboratory markers are not always diagnostic. Imaging especially characteristic MRI features plays a diagnostic role.

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