Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review

This case underscores the need to consider NAXE-related encephalopathy in children with fever-induced acute neurological decline. The discovery of a novel compound heterozygous variant combination [c.389A > C [p.His130Pro] and c.733A > C [p.Lys245Gln]] defines a milder phenotypic spectrum and mandates early genetic testing for timely diagnosis and prognostic insight. Importantly, given the single-case nature of this observation, conclusion regarding treatment efficacy remains hypothesis-generating and require validation in additional cases.