Childhood chorea with cerebral hypotrophy: A treatable GLUT1 energy failure syndrome

Belén Pérez-Dueñas, Catherina Prior, Qian Ma, Emilio Fernández-Álvarez, Xavier Setoain, Rafael Artuch, Juan M. Pascual

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

Objective: To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly. Design: Case report. Setting: 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.

Original languageEnglish (US)
Pages (from-to)1410-1414
Number of pages5
JournalArchives of neurology
Volume66
Issue number11
DOIs
StatePublished - Nov 2009

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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