Iranian Journal of Pediatrics

Published by: Kowsar

Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

Negin Rezaei 1 , Sedighe Nikbakht 1 , Mahmoud-Reza Ashrafi 1 , 2 , Zahra Rezaei 1 , Nejat Mahdieh 3 , Houman Alizadeh 4 , Man Amanat 1 , 5 and Ali Reza Tavasoli 1 , 2 , *
Authors Information
1 Children’s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
2 Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
3 Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
4 Department of Radiology, Tehran University of Medical Sciences, Tehran, Iran
5 Students’ Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran
Article information
  • Iranian Journal of Pediatrics: April 2018, 28 (2); e65620
  • Published Online: March 10, 2018
  • Article Type: Case Report
  • Received: December 27, 2017
  • Revised: February 5, 2018
  • Accepted: February 16, 2018
  • DOI: 10.5812/ijp.65620

To Cite: Rezaei N, Nikbakht S, Ashrafi M, Rezaei Z, Mahdieh N, et al. Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report, Iran J Pediatr. 2018 ; 28(2):e65620. doi: 10.5812/ijp.65620.

Copyright © 2018, Iranian Journal of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited
1. Introduction
2. Case Presentation
3. Discussion
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  • 6. Gungor O, Ozkaya AK, Hirfanoglu T, Dilber C, Aydin K. A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. Genet Couns. 2015;26(1):41-6. [PubMed: 26043506].
  • 7. Leng X, Wu Y, Wang X, Pan Y, Wang J, Li J. Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bvarepsilon (eIF2Bvarepsilon) identified in Chinese patients with vanishing white matter disease. J Hum Genet. 2011;56(4):300-5. doi: 10.1038/jhg.2011.9. [PubMed: 21307862].
  • 8. Hata Y, Kinoshita K, Miya K, Hirono K, Ichida F, Yoshida K. An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region. Int J Clin Exp Pathol. 2014;7(6):3355-62. [PubMed: 25031760].
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