Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature

J Paediatr Child Health. 2014 Dec;50(12):1025-6. doi: 10.1111/jpc.12613.

Abstract

Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet.

Keywords: general paediatrics; metabolic; neurology.

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / complications*
  • Carbohydrate Metabolism, Inborn Errors / diet therapy*
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child
  • Diet, Carbohydrate-Restricted / methods
  • Diet, Ketogenic / methods
  • Glucose Transporter Type 1 / deficiency*
  • Glucose Transporter Type 1 / genetics*
  • Humans
  • Male
  • Migraine Disorders / diet therapy*
  • Migraine Disorders / genetics*
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Mutation, Missense
  • Treatment Outcome

Substances

  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins

Supplementary concepts

  • Glut1 Deficiency Syndrome