Journal
JOURNAL OF CHILD NEUROLOGY
Volume 23, Issue 7, Pages 832-834Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073808314896
Keywords
GLUT1 DS; developmental delay; ataxia; seizures
Categories
Ask authors/readers for more resources
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 long-standing history of intermittent ataxia who was diagnosed as having GLUT1 deficiency syndrome after the onset of seizures at age I I 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available