GLUT1 deficiency without epilepsy: yet another case.
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.
Joshi
Charuta
C
Section of Pediatric Neurology, University of Manitoba, Winnipeg, Canada.
Greenberg
Cheryl R
CR
De Vivo
Darryl
D
Dong Wang
Chan-Lui
Winifred
W
Booth
Frances A
FA
D001259:Ataxia / Q000209:etiology* / Q000378:metabolism; D001786:Blood Glucose / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis*; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D012640:Seizures / Q000178:diet therapy / Q000209:etiology* / Q000378:metabolism; D013577:Syndrome
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D005947:Glucose