Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review

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Abstract

The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches). During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment.

Original languageEnglish
Pages (from-to)36-38
Number of pages3
JournalJournal of Pediatric Neurosciences
Volume9
Issue number1
DOIs
Publication statusPublished - 2014

Keywords

  • EEG
  • epilepsy
  • Glucose transport protein type 1 deficiency syndrome
  • ketogenic diet
  • mental retardation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)

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