Presentation
Fever and fits.
Patient Data
Age: Six months old
Gender: Female
From the case:
Glutaric aciduria type 1
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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.