Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

ABSTRACT:

Background

Variants in EIF2AK2 have been recently associated with a spectrum of neurological disease encompassing isolated dystonia to fever-related neurological decompensation, movement disorders and leukodystrophy.

Case

A 32-year old patient presented with childhood-onset episodes of neurological decompensation after febrile illness, progressive anarthria, dystonia and spasticity. The T2/FLAIR MRI showed bilateral posterolateral putamen hyperintensities and white matter changes suggestive of leukodystrophy. Initial extensive metabolic workup and whole genome sequencing (WGS) was unremarkable. Re-analysis of the WGS data revealed a variant in exon 3 of the EIF2AK2 gene [(NM_001135651.3): c.92C > G (p.Pro31Arg)]. EIF2AK2-associated disorders should be in

SUBMITTER: Waller SE 

PROVIDER: S-EPMC8810435 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature