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


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


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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: © 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.


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