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Article

EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.

Neurogenetics - 23 Feb 2026

Kawai Yasuhiro, Ikeda Azusa, Nagai Koki, Takuya Naruto, Aida Noriko, Goto Tomohide, Kuroda Yukiko, Kurosawa Kenji

Abstract excerpt

Heterozygous EIF2AK2 variants reportedly cause leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome. We present, to our knowledge, the first reported patient with EIF2AK2-related hypomyelinating leukoencephalopathy involving congenital bilateral vocal cord paralysis. She had respiratory distress soon after birth and underwent tracheostomy. Neonatal brain magnetic resonance imaging...

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Source

Identifiers

PMID: 41729339
DOI: 10.1007/s10048-026-00888-1

Genes

EIF2AK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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