The prevalence and spectrum of brain abnormalities in congenital choanal atresia

Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the scope of associated brain abnormalities. CCA was associated with known syndromes or different congenital abnormalities in 7 and 10 patients, respectively, and was an isolated finding in 6 patients. Six patients (26%) had brain abnormalities including alobar holoprosencephaly, absent corpus callosum, benign enlargement of the subarachnoid space of infancy, cerebral calcification, small right hemisphere, small ventricles and microcephaly. None of the brain abnormalities were suspected clinically. Brain abnormalities were more common in boys compared to girls (40% vs 15.4%, p = 0.18), in bilateral compared to unilateral CCA (31.3% vs 14%, p = 0.38), and in membranous compared to bony CCA (75% vs 15.7%, p = 0.02). Brain abnormalities associated with CCA may be more common than generally recognized and more so in certain subgroups of patients. Obtaining a CT scan of the brain should be considered in all patients with CCA.