Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24323445.
- Also identified by DOI 10.1212/01.wnl.0000437291.75075.53 and PMC identifier 3863345.
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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.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Glutaryl-CoA Dehydrogenase
- Spasms, Infantile