AbstractBackground: Glutaric acidemia type 1 (GA1) is a rare autosomal recessive neurometabolic disorder that can present with devastating neurological sequelae if not recognized early. We present a case highlighting the characteristic neuroimaging findings that enabled prompt diagnosis and treatment initiation.
Case Presentation: A 10-month-old female presented with new-onset seizures and developmental regression. Neurological examination revealed axial hypotonia, appendicular hypertonia, and delayed motor milestones. Magnetic resonance imaging (MRI) demonstrated pathognomonic features including bilateral widened opercula with "bat-wing" configuration of the sylvian fissures, symmetric basal ganglia signal abnormalities with restricted diffusion, and extensive white matter changes. These imaging findings, combined with elevated urinary glutaric acid levels, confirmed the diagnosis of GA1. The patient was immediately started on a low-protein diet with L-carnitine and riboflavin supplementation.
Conclusion: Recognition of characteristic neuroimaging patterns in GA1, particularly the "bat-wing" sign, is crucial for early diagnosis before irreversible striatal injury occurs. This case emphasizes the importance of MRI in the diagnostic workup of infants presenting with seizures and abnormal neurological findings.
