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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.

A new congenital syndrome characterized by the simultaneous failure of control of ventilation (Ondine's curse) and intestinal motility (Hirschsprung's disease) is reported in three infants, all of whom died in the first few months of life; two were siblings. Detailed studies in one also revealed markedly decreased esophageal motility and abnormal control of heart rate. In one infant, minute ventilation was lower in quiet than in REM sleep and lower in both states of sleep than in wakefulness. Although the mean inspiratory flow was decreased in quiet sleep, the hypoventilation resulted primarily from a decrease in respiratory frequency. Intravenous doxapram increased ventilation but did not reverse respiratory failure. Aminophyllin, progesterone, physostigmine and chlorpromazine did not change ventilation significantly; imipramine resulted in a significant decrease. Both long and short-term variability of the heart rate were markedly decreased when compared with the normal infant. Although neuropathologic studies postmorten did not reveal an anatomic defect, we postulate that a developmental abnormality in serotonergic neurons is responsible for this new syndrome.[1]


  1. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Haddad, G.G., Mazza, N.M., Defendini, R., Blanc, W.A., Driscoll, J.M., Epstein, M.A., Epstein, R.A., Mellins, R.B. Medicine (Baltimore) (1978) [Pubmed]
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