Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

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.

• Authors: Silvia Vieker, Jörg Schmitt, Alfred Längler, Winfried Schmidt, Joerg Klepper
• Journal: Neuropediatrics (Neuropediatrics) Vol. 43 Issue 5 Pg. 275-8 (Oct 2012) ISSN: 1439-1899 [Electronic] Germany
• PMID: 22976442 (Publication Type: Case Reports, Journal Article)
• Copyright: Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Chemical References

• Anticonvulsants
• Glucose Transporter Type 1
• Monosaccharide Transport Proteins
• Steroids

Topics

• Anticonvulsants (therapeutic use)
• Carbohydrate Metabolism, Inborn Errors (complications)
• Child
• Electroencephalography
• Epilepsy (drug therapy, genetics)
• Female
• Glucose Transporter Type 1 (chemistry, genetics)
• Humans
• Models, Molecular
• Monosaccharide Transport Proteins (deficiency)
• Mutation (genetics)
• Steroids (therapeutic use)