title: Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.
abstract: OBJECTIVE
  To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Two academic medical centers. Patient A 7-year-old patient followed up for 4 years.
  
  
  RESULTS
  The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion. She harbored a sporadic, heterozygous amino acid insertion in the GLUT1 transporter (insY292) that, in all likelihood, impaired blood-brain glucose flux. Her brain configuration appeared hypotrophic via magnetic resonance imaging, particularly over the occipital lobes. A ketogenic diet resulted in brain growth that accompanied a favorable symptomatic outcome.
  
  
  CONCLUSIONS
  To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered.
authors.affiliation: Department of Neurology, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Catherina
authors.initials: C
authors.lastname: Prior
authors.forename: Qian
authors.initials: Q
authors.lastname: Ma
authors.forename: Emilio
authors.initials: E
authors.lastname: Fernández-Alvarez
authors.forename: Xavier
authors.initials: X
authors.lastname: Setoain
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Juan M
authors.initials: JM
authors.lastname: Pascual
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000178:diet therapy* / Q000235:genetics / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000178:diet therapy / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics; D055423:Diet, Ketogenic; D027342:Excitatory Amino Acid Transporter 2 / Q000235:genetics*; D005260:Female; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D013577:Syndrome
chemical_list: D027342:Excitatory Amino Acid Transporter 2; D005947:Glucose