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

DOI: 10.1007/s12098-013-1044-5

Cite this article as:
Vykuntaraju, K.N., Bhat, S., Sanjay, K.S. et al. Indian J Pediatr (2014) 81: 934. doi:10.1007/s12098-013-1044-5

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 glucoseGLUT1 deficiency syndromeIndiaKetogenic diet

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