Rajesh Kumar1, Rebecca Ahdout1, Paul M. Macey2, Mary A. Woo2, Ronald M. Harper1
1Neurobiology, David Geffen School of Medicine at UCLA, University of California at Los Angeles, Los Angeles, CA, USA; 2School of Nursing, University of California at Los Angeles, Los Angeles, CA, USA
Congenital central hypoventilation syndrome (CCHS) patients show cognitive and affective deficits. The caudate nuclei play a role in both functions, and show structural injury in CCHS based on gross voxel-based analyses. However, the magnitude of caudate injury in CCHS is unclear. We assessed caudate nuclei volumes in CCHS and control subjects using high-resolution T1-weighted imaging and region-of-interest procedures. Both left and right caudate nuclei volumes were significantly reduced in CCHS compared to controls. Damaged caudate nuclei may contribute to neuropsychological deficits in CCHS; the injury may result from hypoxic processes, together with thiamine deficiency suspected in the syndrome.