Document Type
Article
Publication Date
5-29-2023
Identifier
DOI: 10.1177/2329048X231176673; PMCID: PMC10240855
Abstract
De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.
Journal Title
Child Neurol Open
Volume
10
First Page
2329048
Last Page
2329048
Keywords
EIF2AK2; exome sequencing; hypomyelination; leukodystrophy.
Recommended Citation
Macintosh J, Thiffault I, Pastinen T, Sztriha L, Bernard G. A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy. Child Neurol Open. 2023;10:2329048X231176673. Published 2023 May 29. doi:10.1177/2329048X231176673
Comments
This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed.
Publisher's Link: https://doi.org/10.1177/2329048x231176673