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 Nov;57(6):517-26. doi: 10.1097/00005792-197811000-00003.
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.
本文报道了一种新的先天性综合征，其特征为通气控制（翁丁氏咒诅）和肠道蠕动（先天性巨结肠）同时出现功能障碍。三名婴儿患有该综合征，均在出生后的头几个月内死亡，其中两名是兄弟姐妹。对其中一名婴儿的详细研究还发现，其食管蠕动明显减弱，心率控制异常。在一名婴儿中，安静时的分钟通气量低于快速眼动睡眠时，且在两种睡眠状态下均低于清醒时。虽然安静睡眠时平均吸气流量降低，但通气不足主要是由呼吸频率降低所致。静脉注射多沙普仑可增加通气量，但不能逆转呼吸衰竭。氨茶碱、黄体酮、毒扁豆碱和氯丙嗪对通气量无显著影响；丙咪嗪则导致通气量显著降低。与正常婴儿相比，该综合征婴儿的心率长期和短期变异性均明显降低。尽管死后的神经病理学研究未发现解剖学缺陷，但我们推测，血清素能神经元的发育异常是导致这种新综合征的原因。
