A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Child Neurol Open
; 10: 2329048X231176673, 2023.
Article
en En
| MEDLINE
| ID: mdl-37284702
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Etiology_studies
Idioma:
En
Revista:
Child Neurol Open
Año:
2023
Tipo del documento:
Article
País de afiliación:
Canadá
Pais de publicación:
Estados Unidos