We report a case of the rare concurrence of total colonic aganglionosis and central hypoventilation. The relevant literature regarding the association of these syndromes, the reversal of male to female predominance in total colonic aganglionosis v Hirschsprung's disease, their association with pheochromocytoma and neuroblastoma, and the possible etiologic role of cessation of neural crest cell migration, are discussed.