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

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 showed normal myelination, but severe delayed myelination, accompanied by the rare finding of dorsal medulla and cervical spinal cord signal changes, was apparent at 8 months after transient neurologic regression triggered by infection. Exome sequencing identified a recurrent heterozygous variant in EIF2AK2 (NM_002759.3:c.326 C > T p.(Ala109Val)). Bilateral vocal cord paralysis might be a clinical feature of EIF2AK2-related disorders.