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GLUT1 Deficiency Without Epilepsy: Yet Another Case

¹ Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
² Program in Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
³ Section of Pediatric Neurosciences, Columbia University Medical Center, New York, New York

^* To whom correspondence should be addressed.

	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.

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