The Indian Journal of Pediatrics

, Volume 81, Issue 9, pp 934–936

Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet

  • K. N. Vykuntaraju
  • Srikanth Bhat
  • K. S. Sanjay
  • M. Govindaraju
Clinical Brief

Abstract

Glucose transporter type 1 (GLUT-1) deficiency is a rare cause of preventable intellectual disability. Intellectual disability is due to refractory seizures in infancy and reduced supply of glucose to the brain. The authors report a third born male child of consanguineous parentage who presented with infantile spasms. Initially, he had refractory convulsions of focal, generalised, and myoclonic jerks, not responding to multiple anticonvulsants. He also had choreoathetoid movements. On examination he had microcephaly. MRI of brain was normal and EEG showing diffuse slowing. CSF glucose was low compared to blood glucose, with normal lactate and without any cells, hence diagnosed as Glucose transporter-1 deficiency and started on ketogenic diet. With ketogenic diet, child was seizure free, anticonvulsants decreased to 2 from 5, and improvements in development were noted.

Keywords

Cerebrospinal fluid glucose GLUT1 deficiency syndrome India Ketogenic diet 

References

  1. 1.
    Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier. Nat Genet. 1998;18:188–91.PubMedCrossRefGoogle Scholar
  2. 2.
    De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703–9.PubMedCrossRefGoogle Scholar
  3. 3.
    Wang D, Pascual JM, Yang H. Glut-1 deficient syndrome: Clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57:111–8.PubMedCrossRefGoogle Scholar
  4. 4.
    Friedman JR, Thiele EA, Wang D, et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006;21:241–5.PubMedCrossRefGoogle Scholar
  5. 5.
    Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008;131:1831–44.PubMedCentralPubMedCrossRefGoogle Scholar
  6. 6.
    Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia. 2012;53:1503–10.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2013

Authors and Affiliations

  • K. N. Vykuntaraju
    • 1
    • 3
  • Srikanth Bhat
    • 2
  • K. S. Sanjay
    • 2
  • M. Govindaraju
    • 2
  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia
  3. 3.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia

Personalised recommendations