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Glucose Transporter 1 Deficiency: A Treatable Cause of Opsoclonus and Epileptic Myoclonus.
- Source :
-
Pediatric Neurology . Oct2015, Vol. 53 Issue 4, p364-366. 3p. - Publication Year :
- 2015
-
Abstract
- <bold>Background: </bold>Epileptic myoclonus in infancy is associated with various pathological conditions. In the absence of an identifiable central nervous system lesion, an underlying metabolic genetic cause is often suspected.<bold>Patients: </bold>We describe two infants with glucose transporter 1 deficiency syndrome who presented with epileptic myoclonus. One infant presented with an electroclinical phenotype mimicking benign myoclonic epilepsy of infancy; the other infant had a novel mutation and presented with opsoclonus and epileptic myoclonus with a robust response to high-dose steroids. Both infants began the ketogenic diet after the diagnosis of glucose transporter 1 deficiency syndrome, with good yet variable treatment responses.<bold>Conclusions: </bold>These infants demonstrate that an evaluation for glucose transporter 1 deficiency syndrome is warranted in patients presenting with an electroclinical picture compatible with benign myoclonic epilepsy of infancy as well as in patients with intractable epilepsy who demonstrate a significant response to steroid therapy. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08878994
- Volume :
- 53
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Pediatric Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 109495403
- Full Text :
- https://doi.org/10.1016/j.pediatrneurol.2015.05.019