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Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia

Sonali Sen1, Karen Keough2, James Gibson2

  • 1From UT Southwestern, Austin, TX. All authors are currently with UT Austin, TX. stsen@seton.org.

Neurology
|April 15, 2015
PubMed

Insights

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable cause of intractable childhood epilepsy. Early diagnosis via serum to CSF glucose testing and ketogenic diet initiation can significantly improve patient quality of life.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Epilepsy Syndromes

Background:

  • Intractable epilepsy is a frequent challenge in pediatric neurology, often with limited treatment options.
  • Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an underrecognized cause of pediatric epilepsy.
  • Current medical management for many epilepsy cases remains unsatisfactory.

Observation:

  • This case report details a child presenting with symptoms suggestive of GLUT1-DS.
  • Diagnostic evaluation included comparing serum and cerebrospinal fluid (CSF) glucose levels, revealing hypoglycorrhachia.
  • The patient was identified with a novel, spontaneous mutation associated with GLUT1-DS.

Findings:

  • Hypoglycorrhachia (low CSF glucose) is a key indicator for suspecting GLUT1-DS.
  • The ketogenic diet is a well-established and effective treatment for GLUT1-DS.
  • This patient experienced significant quality of life improvements with the ketogenic diet.

Implications:

  • Early identification and treatment of GLUT1-DS are crucial for improved neurological outcomes.
  • This case expands the literature on GLUT1-DS, particularly regarding novel mutations.
  • Highlighting GLUT1-DS emphasizes the importance of considering metabolic etiologies in pediatric epilepsy.

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