home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 112      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 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
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.131481

Rights and Permissions

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.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed18390    
    Printed39    
    Emailed1    
    PDF Downloaded651    
    Comments [Add]    

Recommend this journal