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[GLUT-1 deficiency syndrome or De Vivo disease: a case report]

I Ticus1, A Cano, N Villeneuve

  • 1Service de pédiatrie et neurologie pédiatrique, hôpital d'Enfants, CHU La Timone, 264 rue Saint-Pierre, Marseille cedex 5, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|June 17, 2008
PubMed

Insights

Glucose transporter type 1 (GLUT-1) deficiency causes severe neurological issues in infants. A novel mutation was identified in a child with developmental delay and seizures, highlighting the need for early diagnosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic disorders

Context:

  • Glucose transporter type 1 (GLUT-1) is crucial for brain glucose uptake.
  • GLUT-1 deficiency syndrome presents with infantile seizures, developmental delay, and microcephaly.
  • A low cerebrospinal fluid (CSF) to serum glucose ratio is a key diagnostic marker.

Purpose:

  • To report a case of GLUT-1 deficiency syndrome in a child with specific neurological manifestations.
  • To highlight the diagnostic value of CSF/serum glucose ratio.
  • To identify a novel mutation associated with the condition.

Summary:

  • The study details a child experiencing paroxysmal events, developmental delay, microcephaly, and spasticity.
  • Simultaneous CSF and serum glucose measurements revealed a low ratio (0.39).
  • Molecular analysis uncovered a previously undocumented heterozygous mutation in the GLUT-1 gene.

Impact:

  • This case underscores the importance of recognizing GLUT-1 deficiency syndrome based on clinical presentation and biochemical markers.
  • Identification of a novel mutation expands the known genetic landscape of GLUT-1 deficiency.
  • Early diagnosis and potential therapeutic interventions can mitigate severe neurological outcomes.

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