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 CASE REPORT
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


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.131481

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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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