Acta Scientific Neurology (ASNE) (ISSN: 2582-1121)

Case Report Volume 5 Issue 3

Case Report - An Unusual Case of Vanishing White Matter Disease with Cataract and Exaggerated Stress Response

Forshing Lui1*, John J Geraghty2, Alexander Jacob Nagourney1, Patrick Khatchadourian1, Yosof Naseem Katiby BS1 and Anna Marika Thiemann1

1California Northstate University College of Medicine, Elk Grove, California
2Kaiser Permanente Medical Center, Roseville, California

*Corresponding Author: Forshing Lui, California Northstate University College of Medicine, Elk Grove, California.

Received: December 28, 2021; Published: February 15, 2022

Abstract

Vanishing white matter disease (VWM) is a rare inherited neurological disorder caused by mutations of the EIF2B genes (EIF2B 1 - 5). The gene is important in the initiation of translation in protein synthesis. The onset of clinical symptoms varies from infancy to adulthood. There are well-reported triggering factors for the onset of the disease as well as episodes of acute rapid decline. Apart from the antenatal or neonatal onset of the disease, the involvement of tissues or organs other than the cerebral white matter is very unusual. We are describing a case of VWM presenting with congenital cataracts at birth. Her clinical onset of leukodystrophy occurred much later during late childhood. VWM is an autosomal recessively inherited disease. However, the congenital cataract in our patient is inherited in an autosomal dominant manner. The case also demonstrated interesting and unusual triggers of vaccination and fright or stress related to separation anxiety when her neurologist went on vacation. The genetics and pathophysiology of the disease and the effects of triggers are reviewed and presented.

Keywords: Leukodystrophy; Vanishing White Matter; EIF2B Gene; Congenital Cataract

References

  1. Bektaş G., et al. “Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up”. Clinical Neurology and Neurosurgery 171 (2018): 190-193.
  2. Pronk JC., et al. “Vanishing white matter disease: a review with focus on its genetics”. Mental Retardation and Developmental Disabilities Research Reviews2 (2006): 123-128.
  3. Keefe MD., et al. “Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response”. Elife 9 (2020): e56319.
  4. Marintchev A and Ito T. “eIF2B and the Integrated Stress Response: A Structural and Mechanistic View”. Biochemistry 13 (2020): 1299-1308.
  5. Van der Knaap MS., et al. “eIF2B-related disorders: antenatal onset and involvement of multiple organs”. American Journal of Human Genetics 5 (2003): 1199-11207.
  6. Van Der Lei HD., et al. “Genotype-phenotype correlation in vanishing white matter disease”. Neurology 75.17 (2010): 1555-1559.
  7. Yavuz H. “A Review of Infantile Vanishing White Matter Disease and A New Mutation”. Acta Neurologica Taiwanica 4 (2017): 167-176.
  8. Lin Y., et al. “Impaired eukaryotic translation initiation factor 2B activity specifically in oligodendrocytes reproduces the pathology of vanishing white matter disease in mice”. The Journal of Neuroscience 36 (2014): 12182-12191.
  9. Turón-Viñas E., et al. “Vanishing white matter disease in a spanish population”. Journal of Central Nervous System Disease 6 (2014): 59-68.
  10. Hamilton EMC., et al. “Natural History of Vanishing White Matter”. Annals of Neurology 2 (2018): 274-288.
  11. Pavitt GD and Proud CG. “Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease”. Biochemical Society Transactions 6 (2009): 1298-1310.
  12. Biancheri R., et al. “Hypomyelination and congenital cataract: broadening the clinical phenotype”. Archives of Neurology 9 (2011): 1191-1194.
  13. Güngör G., et al. “Vanishing white matter disease with different faces”. Child's Nervous System 2 (2020): 353-361.

Citation

Citation: Forshing Lui., et al. “Case Report - An Unusual Case of Vanishing White Matter Disease with Cataract and Exaggerated Stress Response”. Acta Scientific Neurology 5.3 (2022): 11-15.

Copyright

Copyright: © 2022 Forshing Lui., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




Metrics

Acceptance rate32%
Acceptance to publication20-30 days

Indexed In




News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is July 30, 2024.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of "Best Article of the Issue"
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.

Contact US