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Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome

Belén Pérez-Dueñas1, Catherina Prior, Qian Ma

  • 1Department of Neurology, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.

Archives of Neurology
|November 11, 2009
PubMed

Insights

This case report details a novel glucose transporter type 1 deficiency syndrome (GLUT1-DS) phenotype in a child without microcephaly. A ketogenic diet improved symptoms and brain growth, highlighting potential treatment avenues for this rare neurological disorder.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurological disorder characterized by impaired glucose transport to the brain.
  • Typical phenotypes include epilepsy, developmental delay, and movement disorders, often associated with microcephaly.

Observation:

  • A 7-year-old patient presented with chorea, mental retardation, paroxysmal ataxia, dysarthria, and dystonia, exacerbated by fasting or exertion.
  • The patient had a novel heterozygous insertion (insY292) in the GLUT1 transporter gene, likely impairing brain glucose flux.
  • Magnetic resonance imaging revealed brain hypotrophy, particularly in the occipital lobes.

Findings:

  • The patient's GLUT1-DS phenotype was distinct, lacking microcephaly and presenting with a unique combination of movement and cognitive symptoms.
  • A ketogenic diet intervention led to observable brain growth and significant symptomatic improvement.
  • This suggests that even novel or hypomorphic GLUT1 variants can be responsive to metabolic interventions.

Implications:

  • This case expands the known clinical spectrum of GLUT1-DS, emphasizing the importance of considering atypical presentations.
  • The findings underscore the potential for discovering new GLUT1 variants and their associated phenotypes.
  • The positive response to a ketogenic diet in this case highlights its therapeutic potential for GLUT1-DS, even in non-classical presentations.
Abstract

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