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Absence Epilepsy with Onset before Age Three Years: Could this Be Glut‐1 Deficiency Syndrome (De Vivo Syndrome)?

2003; Wiley; Volume: 45; Issue: 1 Linguagem: Inglês

10.1111/j.0013-9580.2004.41503.x

1528-1167

Lawrence J. Hirsch,

Glycogen Storage Diseases and Myoclonus

EpilepsiaVolume 45, Issue 1 p. 92-93 Free Access Absence Epilepsy with Onset before Age Three Years: Could this Be Glut-1 Deficiency Syndrome (De Vivo Syndrome)? Lawrence J. Hirsch MD, Lawrence J. Hirsch MD Department of Neurology Comprehensive Epilepsy Center Columbia University New York, New YorkSearch for more papers by this author Lawrence J. Hirsch MD, Lawrence J. Hirsch MD Department of Neurology Comprehensive Epilepsy Center Columbia University New York, New YorkSearch for more papers by this author First published: 24 December 2003 https://doi.org/10.1111/j.0013-9580.2004.41503.xCitations: 5AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat To the Editor: I read with interest the article, "Absence epilepsy with onset before age three years: a heterogeneous and often severe condition" in the July issue of Epilepsia (1). I read this shortly after I read a potentially relevant article published 2 months earlier in Epilepsia, by Leary and colleagues, entitled Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome (2). I refer to this syndrome as "De Vivo" syndrome, as I was fortunate enough to train and work at the same institution as Dr. De Vivo (Columbia University) as he was discovering and defining this interesting syndrome (3). De Vivo syndrome has early-life seizures and low cerebrospinal fluid (CSF) glucose. The defect appears to be in the GLUT-1 glucose transporter, which transports glucose across the blood–brain barrier. In the group of 20 patients with De Vivo syndrome described by Leary and colleagues, half had absence seizures. The most common EEG finding was 2.5- to 4-Hz generalized spike–wave, especially in children older than 2 years, and the most common seizure type recorded during video/EEG monitoring was absence. Normal background EEGs were common. Thus the EEGs in these children often resembled those of children with idiopathic primary generalized epilepsy, including childhood absence epilepsy. Although the more severe cases also have developmental delay, ataxia, hypotonia, acquired microcephaly, and infantile seizures, clearly milder phenotypes exist (2,4), and additional mild variants are probably yet to be discovered. Recognition of this syndrome is important as antiepileptic drugs (AEDs) are often ineffective [phenobarbital can inhibit GLUT-1 and should probably be avoided (2)], whereas the ketogenic diet, by supplying an alternative energy source to the brain, is quite effective. Leary et al. recommend considering a screening lumbar puncture in all patients with idiopathic or cryptogenic epilepsy who are not responding to AEDs. This is probably highest yield in patients with early-onset seizures (first few years of life) and generalized spike–wave on EEG. This leads to the obvious question for Chaix and colleagues: Did any of their patients with early-onset absence seizures (most of which were difficult to control and associated with learning difficulties) have lumbar punctures? If not, it may be worth screening this group and other similar patients for low CSF glucose, as this would have important therapeutic implications. REFERENCES 1 Chaix Y, Daquin G, Monteiro F, et al. Absence epilepsy with onset before age three years: a heterogeneous and often severe condition. Epilepsia 2003; 44: 944– 9.Wiley Online LibraryPubMedWeb of Science®Google Scholar 2 Leary LD, Wang D, Nordli DR Jr, et al. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003; 44: 701– 7.Wiley Online LibraryPubMedWeb of Science®Google Scholar 3 De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325: 703– 9.CrossrefCASPubMedWeb of Science®Google Scholar 4 Brockmann K, Wang D, Korenke CG, et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 2001; 50: 476– 85.Wiley Online LibraryCASPubMedWeb of Science®Google Scholar Citing Literature Volume45, Issue1January 2004Pages 92-93 ReferencesRelatedInformation