An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early myoclonic encephalopathy in the neonatal period is presented in this article. Treated early with sodium benzoate and dextromethorphan, she became seizure-free, while myoclonus persisted. During examination, multifocal rhythmic myoclonic jerks in gamma frequency enhanced by motor activity were noted. Coherence analysis of the electroencephalography-electromyography relationship indicated a cortical origin of the myoclonic jerks. Observation of this case suggests that rhythmic cortical myoclonus may represent a late evolution of this rare disorder.
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia / M. Mastrangelo, L. Canafoglia, S. Franceschetti, C. Oppezzo, F. Mosca, F. Menni, R. Parini, C. Ciano, V. Scaioli, F. Panzica. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 23:3(2008), pp. 321-324. [10.1177/0883073807308699]
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia
F. Mosca;
2008
Abstract
An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early myoclonic encephalopathy in the neonatal period is presented in this article. Treated early with sodium benzoate and dextromethorphan, she became seizure-free, while myoclonus persisted. During examination, multifocal rhythmic myoclonic jerks in gamma frequency enhanced by motor activity were noted. Coherence analysis of the electroencephalography-electromyography relationship indicated a cortical origin of the myoclonic jerks. Observation of this case suggests that rhythmic cortical myoclonus may represent a late evolution of this rare disorder.Pubblicazioni consigliate
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