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.

Abstract
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 (http://creativecommons.org/licenses/by-nc/4.0/) 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
Acknowledgements
References
  • 1. Ashrafi MR, Rezaei Z, Heidari M, Nikbakht S, Malamiri RA, Mohammadi M. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System. J Child Neurol. 2018;33(4):255-9. doi: 10.1177/0883073817751804. [PubMed: 29333903].
  • 2. Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev. 2015;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. [PubMed: 25457085].
  • 3. van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9. [PubMed: 16632312].
  • 4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. doi: 10.1038/gim.2015.30. [PubMed: 25741868].
  • 5. Shimada S, Miya K, Oda N, Watanabe Y, Kumada T, Sugawara M. An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. Am J Med Genet A. 2012;158A(7):1771-7. doi: 10.1002/ajmg.a.35431. [PubMed: 22678813].
  • 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].
  • 9. Ashrafi MR, Tavasoli AR. Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management. Brain Dev. 2017;39(5):369-85. doi: 10.1016/j.braindev.2017.01.001. [PubMed: 28117190].
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments