Congenital central hypoventilation syndrome treated with diaphragm pacing.
Congenital central hypoventilation syndrome was diagnosed in an infant who since birth had shallow respiration and CO2 retention during sleep, absent ventilatory response to hypercarbia, and no underlying disease or trauma to account for the symptoms. Diaphragm pacing was started at the age of 8 1/2 months and has been successfully carried out at home, guided by end-tidal CO2 monitoring. After 22 months of home treatment, at the age of two years 9 months, linear growth and psychomotor development are progressing normally, while previous symptoms of cor pulmonale have not progressed.
D009202:Cardiomyopathies / Q000209:etiology; D002675:Child, Preschool; D003964:Diaphragm / Q000294:innervation*; D004599:Electric Stimulation Therapy; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000151:congenital / Q000628:therapy*