Diffusion Tensor Imaging of Rostral Brain Areas in Patients with Congenital Central Hypoventilation Syndrome

Rajesh Kumar¹, Paul M. Macey^2,3, Mary A. Woo², Ronald M. Harper^1,3

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.