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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)

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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
 

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