PEBEL2 is a rare genetic condition that primarily causes acute severe neurological damage in children after what would normally be a mild episode of fever, illness, or trauma, and is often lethal. The children are born healthy, but have a rapid decline after illness. Often the affected individual will develop painful skin lesions during the acute presentation. There are reports of cardiac and skeletal muscular manifestations in some individuals.
Inheritance of PEBEL2 in nearly all cases is autosomal recessive. There are rare instances of de novo variants.
NAXD