A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Julia MacintoshIsabelle ThiffaultTomi PastinenLászló SztrihaGeneviève BernardPublished in: Child neurology open (2023)
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.
Keyphrases
- copy number
- spinal cord injury
- magnetic resonance imaging
- genome wide
- contrast enhanced
- single cell
- resting state
- white matter
- low grade
- early onset
- systematic review
- randomized controlled trial
- cerebral ischemia
- computed tomography
- cerebral palsy
- multiple sclerosis
- diffusion weighted imaging
- brain injury
- functional connectivity