title: Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
abstract: A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarrhythmia and spasms.
authors: From the University of California, San Francisco School of Medicine (N.Y.-L.); Division of Epilepsy (S.S.) and Division of Child Neurology (M.G., A.A.G.), Department of Neurology; Division of Pediatric Neuroradiology (O.A.G.), Department of Radiology; and Division of Medical Genetics (C.L., A.W.-B.), Department of Pediatrics (A.A.G.), University of California, San Francisco.
authors: Nichole
authors: N
authors: Young-Lin
authors: Sarah
authors: S
authors: Shalev
authors: Orit A
authors: OA
authors: Glenn
authors: Marisa
authors: M
authors: Gardner
authors: Chung
authors: C
authors: Lee
authors: Anthony
authors: A
authors: Wynshaw-Boris
authors: Amy A
authors: AA
authors: Gelfand
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000150:complications / Q000175:diagnosis*
chemical_list: D050770:Glutaryl-CoA Dehydrogenase