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J Child Neurol. 2008 Jul;23(7):832-4. doi: 10.1177/0883073808314896. Epub 2008 Apr 10.

GLUT1 deficiency without epilepsy: yet another case.

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Section of Pediatric Neurology, University of Manitoba, Winnipeg, Canada.


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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