DOI: 10.1177/2329048X231176673; PMCID: PMC10240855
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.
Child Neurol Open
EIF2AK2; exome sequencing; hypomyelination; leukodystrophy.
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