| CASE REPORT |
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| Year : 2014 | Volume
: 9
| Issue : 1 | Page : 36-38 |
Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review
Annio Posar, Margherita Santucci
Department of Biomedical and Neuromotor Sciences, Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, University of Bologna, Bologna, Italy
Correspondence Address:
Annio Posar
Department of Biomedical and Neuromotor Sciences, Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, University of Bologna, Via Altura 3, Bologna - 40139
Italy
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1817-1745.131481
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.
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