Download PDF
Neuropediatrics 2012; 43(05): 275-278
DOI: 10.1055/s-0032-1324399
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Unusual Sensitivity to Steroid Treatment in Intractable Childhood Epilepsy Suggests GLUT1 Deficiency Syndrome

Silvia Vieker
1   Department of Integrative Pediatric Medicine, Gemeinschaftskrankenhaus, Herdecke, Germany
,
Jörg Schmitt
2   Department of Neurology, Gemeinschaftskrankenhaus, Herdecke, Germany
,
Alfred Längler
1   Department of Integrative Pediatric Medicine, Gemeinschaftskrankenhaus, Herdecke, Germany
3   Faculty of Health, School of Medicine, Center of Integrative Medicine, University of Witten/Herdecke, Germany
,
Winfried Schmidt
4   Labor Lademannsbogen, Hamburg, Germany
,
Joerg Klepper
5   Pediatrics/Neuropediatrics, Childrens' Hospital Aschaffenburg, Aschaffenburg, Germany
› Author Affiliations
Further Information

Publication History

04 January 2012

08 July 2012

Publication Date:
13 September 2012 (online)

    Permissions and Reprints

Abstract

Glucose transporter 1 (GLUT1) deficiency syndrome (DS) results from impaired glucose transport into brain. We describe the case of an 8-year-old girl with early-onset myoclonic epilepsy unresponsive to eight anticonvulsants. Oral steroid treatment achieved dramatic seizure control at the expense of Cushing syndrome and progressive fatty liver disease. Steroid withdrawal resulted in severe seizure exacerbation but was eventually enforced for lumbar puncture. GLUT1DS was diagnosed by hypoglycorrhachia and a heterozygous SLC2A1 mutation (Arg400His). A ketogenic diet resulted in effective seizure control. Steroids in GLUT1DS are unusual and unreported. Here a remarkable immediate and effective seizure control and a dose-independent unsuccessful steroid withdrawal indicated a potential GLUT1 sensitivity to steroids. We review the literature on GLUT1/steroid interactions and propose that unusual steroid sensitivity in intractable childhood epilepsy might be indicative for GLUT1DS.

Keywords

GLUT1 - GLUT1 deficiency - blood–brain barrier - childhood epilepsy - ketogenic diet - SLC2A1 - steroids - dexamethasone
 

  • References

  • 1 Overweg-Plandsoen WC, Groener JE, Wang D , et al. GLUT-1 deficiency without epilepsy—an exceptional case. J Inherit Metab Dis 2003; 26 (6) 559-563
    CrossrefPubMedGoogle Scholar
  • 2 Friedman JR, Thiele EA, Wang D , et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 2006; 21 (2) 241-245
    CrossrefPubMedGoogle Scholar
  • 3 Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology 2008; 71 (2) 146-148
    CrossrefPubMedGoogle Scholar
  • 4 Klepper J, Leiendecker B. GLUT1 deficiency syndrome—2007 update. Dev Med Child Neurol 2007; 49 (9) 707-716
    CrossrefPubMedGoogle Scholar
  • 5 Schürmann A, Doege H, Ohnimus H, Monser V, Buchs A, Joost HG. Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function. Biochemistry 1997; 36 (42) 12897-12902
    CrossrefPubMedGoogle Scholar
  • 6 Williams SA, Birnbaum MJ. The rat facilitated glucose transporter gene. Transformation and serum-stimulated transcription initiate from identical sites. J Biol Chem 1988; 263 (36) 19513-19518
    PubMedGoogle Scholar
  • 7 Langdown ML, Sugden MC. Enhanced placental GLUT1 and GLUT3 expression in dexamethasone-induced fetal growth retardation. Mol Cell Endocrinol 2001; 185 (1–2) 109-117
    CrossrefPubMedGoogle Scholar
  • 8 Olgemöller B, Schön J, Wieland OH. Endothelial plasma membrane is a glucocorticoid-regulated barrier for the uptake of glucose into the cell. Mol Cell Endocrinol 1985; 43 (2–3) 165-171
    CrossrefPubMedGoogle Scholar
  • 9 Guerin C, Wolff JE, Laterra J, Drewes LR, Brem H, Goldstein GW. Vascular differentiation and glucose transporter expression in rat gliomas: effects of steroids. Ann Neurol 1992; 31 (5) 481-487
    CrossrefPubMedGoogle Scholar
  • 10 Chipkin SR, van Bueren A, Bercel E, Garrison CR, McCall AL. Effects of dexamethasone in vivo and in vitro on hexose transport in brain microvasculature. Neurochem Res 1998; 23 (5) 645-652
    CrossrefPubMedGoogle Scholar
  • 11 Ewart HS, Somwar R, Klip A. Dexamethasone stimulates the expression of GLUT1 and GLUT4 proteins via different signalling pathways in L6 skeletal muscle cells. FEBS Lett 1998; 421 (2) 120-124
    CrossrefPubMedGoogle Scholar