Abstract
The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches). During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment.
Original language | English |
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Pages (from-to) | 36-38 |
Number of pages | 3 |
Journal | Journal of Pediatric Neurosciences |
Volume | 9 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2014 |
Keywords
- EEG
- epilepsy
- Glucose transport protein type 1 deficiency syndrome
- ketogenic diet
- mental retardation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neuroscience(all)