We report a new syndrome with the simultaneous failure of control of ventilation (Ondine's Curse), esophageal and intestinal motility (Hirschsprung's disease), and heart rate in three infants, who died in the first few months of life; two were siblings.
Detailed physiologic studies were performed in one, and pathologic studies in three. Ventilation was measured by the barometric method or by pneumotachography. Sleep was staged using the EEG, EOG, and EMG. Minute Ventilation (V) and respiratory rate (f) were lower in Quiet sleep (V=315ml, f=18/min) than in both REM sleep (V=477ml, f=22/min) and wakefulness (V=654ml, f= 29/min). Respiratory pauses >5 sec occurred more frequently in Quiet than in REM sleep. V increased by 25% after IV doxapram but not following aminophylline, progesterone or imipramine. Minimal short term (beat to beat) variability of the ECG R-R interval (interquartile ranged <±1.5 msec.) in both Quiet and REM sleep indicated abnormal control of heart rate. Histologic studies revealed aganglionosis of the colon in all three patients; serial sections of the brain stem in the siblings failed to reveal any abnormality. The Riley-Day Syndrome was excluded. We believe that a congenital abnormality in the autonomic nervous system is responsible for this syndrome.
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Haddad, G., Mazza, N., Blanc, W. et al. CONGENITAL FAILURE OF AUTOMATIC CONTROL OF VENTILATION GASTROINTESTINAL HOTILITY, AND HEART RATE. Pediatr Res 11, 406 (1977) doi:10.1203/00006450-197704000-00222
Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases
Journal of Pediatric Surgery (2019)