Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

Nichole Young-Lin; Sarah Shalev; Orit A Glenn; Marisa Gardner; Chung Lee; Anthony Wynshaw-Boris; Amy A Gelfand

doi:10.1212/01.wnl.0000437291.75075.53

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

Neurology. 2013 Dec 10;81(24):e182-3. doi: 10.1212/01.wnl.0000437291.75075.53.

Authors

Nichole Young-Lin¹, Sarah Shalev, Orit A Glenn, Marisa Gardner, Chung Lee, Anthony Wynshaw-Boris, Amy A Gelfand

Affiliation

¹ 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.

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.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / complications
Amino Acid Metabolism, Inborn Errors / diagnosis*
Brain Diseases, Metabolic / complications
Brain Diseases, Metabolic / diagnosis*
Diagnosis, Differential
Glutaryl-CoA Dehydrogenase / deficiency*
Humans
Infant
Male
Spasms, Infantile / complications
Spasms, Infantile / diagnosis*

Substances

Glutaryl-CoA Dehydrogenase

Supplementary concepts

Glutaric Acidemia I

Grants and funding

K12NS001692/NS/NINDS NIH HHS/United States