Abstract
To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: -0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events t...Continue Reading
References
Sep 5, 1991·The New England Journal of Medicine·D C De VivoS I Harik
Jan 28, 2003·European Journal of Pediatrics·Jörg KlepperThomas Voit
May 20, 2003·Epilepsia·Linda D LearyDarryl C De Vivo
Nov 8, 2003·Journal of Inherited Metabolic Disease·W C G Overweg-PlandsoenD C De Vivo
Apr 28, 2004·Neurology·P KaufmannD C De Vivo
May 19, 2004·British Journal of Pharmacology·Richard J NaftalinIram Afzal-Ahmed
Dec 29, 2004·Annals of Neurology·Dong WangDarryl C De Vivo
Dec 30, 2004·Neurology·Kazuo Abe
Sep 9, 2005·Journal of Cellular Biochemistry·Hei Yi WongYuan Yuan Ho
Feb 16, 2006·Neurology·P KaufmannD C De Vivo
Jul 13, 2006·Neurology·Heikki Savolainen
Feb 14, 2007·Archives of Neurology·Juan M PascualDarryl C De Vivo
May 11, 2007·Developmental Medicine and Child Neurology·Sascha VermeerBert B A de Vries
Oct 3, 2009·Annals of Neurology·Arvid SulsIngrid E Scheffer
Dec 10, 2009·Neurology·M RotsteinD C De Vivo
Feb 27, 2010·Annals of Neurology·Cigdem I AkmanDarryl C De Vivo
Mar 13, 2010·Annals of Neurology·Michael Rotstein, Darryl C De Vivo
Apr 13, 2010·Molecular Genetics and Metabolism·Brynn LevyDarryl C De Vivo
Jan 8, 2011·Journal of Child Neurology·Giulia ParolinStefano Sartori
Dec 23, 2011·Annals of Neurology·Hong YangDarryl C De Vivo
Jul 21, 2012·Epilepsia·Amanda W PongDarryl C De Vivo
Oct 2, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S AgostinelliA Verrotti
Feb 28, 2013·Current Neurology and Neuroscience Reports·Toni S PearsonDarryl C De Vivo
Mar 14, 2013·Neuropediatrics·Joerg Klepper
Oct 23, 2013·Epilepsia·Lucio GiordanoPasquale Striano
May 3, 2014·Journal of Child Neurology·Aliza S AlterDarryl C De Vivo
Jan 27, 2015·Epilepsy Research·Cigdem Inan AkmanDarryl C De Vivo
Citations
Jul 30, 2016·Developmental Medicine and Child Neurology·Clara D M Van Karnebeek
May 2, 2017·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Valentina PucciarelliChiarella Sforza
Feb 27, 2019·Current Neurology and Neuroscience Reports·Sean T HwangSimona V Proteasa
Nov 11, 2018·Archives of Disease in Childhood·Richard E Appleton, Rajat Gupta
Mar 28, 2017·Neurology·Toni S PearsonDarryl C De Vivo
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment
May 8, 2018·Metabolic Brain Disease·Sofia ReisJosé Paulo Monteiro
Nov 30, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Lisette H KoensTom J de Koning
Sep 12, 2020·Epilepsia Open·Joerg KlepperDarryl C De Vivo