Teaching NeuroImages: Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

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)....

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Veröffentlicht in:	Neurology 2013-12, Vol.81 (24), p.e182-e183
Hauptverfasser:	Young-Lin, Nichole, Shalev, Sarah, Glenn, Orit A, Gardner, Marisa, Lee, Chung, Wynshaw-Boris, Anthony, Gelfand, Amy A
Format:	Artikel
Sprache:	eng
Schlagworte:	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 Resident and Fellow Section Spasms, Infantile - complications Spasms, Infantile - diagnosis
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Beschreibung
Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000437291.75075.53