Central Vocal Cord Paresis as Complication of a FBXL4-Associated Mitochondrial Depletions Syndrome

Background: Autosomal-recessive inherited mutations of the FBXL4-gene are part of the mitochondrial depletion syndromes. They cause a reduction in mitochondrial DNA that leads to an impairment of mitochondrial function and severe encephalomyopathy. FBXL4-mutations are known since 2013. To date, 29 patients with FBXL4 deficiency have been described. We present one patient with the complication of a central vocal cord paresis.