Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
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ABSTRACT:
SUBMITTER: Young-Lin N
PROVIDER: S-EPMC3863345 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Publications
Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.
Young-Lin Nichole N Shalev Sarah S Glenn Orit A OA Gardner Marisa M Lee Chung C Wynshaw-Boris Anthony A Gelfand Amy A AA
Neurology 20131201 24
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. ...[more]
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