[Congenital central hypoventilation syndrome--loss of chemosensitivity in respiratory control]

This report describes an infant with congenital central hypoventilation. There is no response to 4% CO2-breathing in sleep and in awake state. Hypoxia, behavioral and "behavioral like" inputs increase ventilation, but not to normal levels. Drugs such as theophylline, naloxone, acetazolamide, methylprogesterone, thyroxine and nicethamide have no effect on the respiratory control. Despite the insertion of a phrenic nerve pacemaker intermittent positive pressure ventilation must be provided in addition.