Rajesh Kumar1, Paul M. Macey2,3, Mary A. Woo2, Ronald M. Harper1,3
Congenital central hypoventilation syndrome (CCHS) patients show respiratory and autonomic deficits likely resulting from PHOX2B mutations affecting autonomic development, or from hypoxic injury. We evaluated axial- and radial-diffusivity, indicating axonal and myelin deficits, respectively, in rostral brain of CCHS. Increased radial-diffusivity emerged in the corona-radiata, internal-capsule, and corpus-callosum, suggesting myelin injury. Axial-diffusivity changes appeared in the thalamus, internal-capsule, corona-radiate, occipital, and temporal lobes, suggesting axonal deficits. Increased axial- and radial-diffusivity appeared in basal forebrain, limbic, occipital, and temporal areas, indicating myelin and axonal deficits. The mechanisms of brain injury are unknown, but likely include both hypoxic and genetic processes.