GLUT1 deficiency without epilepsy: Yet another case

Charuta Joshi, Cheryl R. Greenberg, Darryl De Vivo, Dong Wang, Winifred Chan-Lui, Frances A. Booth

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Glucose transporter type 1 (GLUT1) deficiency syndrome is a metabolic disorder characterized by a low cerebrospinal fluid glucose level caused by decreased activity of the glucose transporter protein. Of approximately 100 patients described with this syndrome in the published literature to date, only 3 patients have had intermittent ataxia as the initial manifestation. This case report describes a 13-year-old boy with a longstanding history of intermittent ataxia who was diagnosed as having GLUT1 deficiency syndrome after the onset of seizures at age 11 years. This case highlights the importance of a carefully organized lumbar puncture in the investigation and management of any child with neurodevelopmental delay and intermittent ataxia with or without seizures.

Original languageEnglish (US)
Pages (from-to)832-834
Number of pages3
JournalJournal of child neurology
Volume23
Issue number7
DOIs
StatePublished - Jul 2008
Externally publishedYes

Keywords

  • Ataxia
  • Developmental delay
  • GLUT1 DS
  • Seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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