Takahashi R, Kakizawa H, Itou T, Yamada M, Nakae S
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Neuropediatrics. 2000 Oct;31(5):269-72. doi: 10.1055/s-2000-9235.
We treated an infant with congenital central hypoventilation syndrome ("Ondine's curse"). She was cyanotic and given ventilatory support at the first hour after birth. An investigation of sleep state and respiration performed at the age of 3 months led to this diagnosis. Hypoventilation persisted in all sleep stages, with the most severely reduced tidal volumes occurring during delta-wave sleep (stages 3 and 4). In addition, severe secondary reduction in tidal volumes occurred in sleep-onset REM sleep. This phenomenon was absent in non sleep-onset REM sleep. At 4 months of age, her respiratory treatment was successfully converted to positive-pressure ventilation via a nasal mask, thus avoiding tracheotomy. This transition to noninvasive ventilatory support dramatically improved her quality of life during wakefulness. This report may be a clue to discuss the function of sleep-onset REM sleep seen in the early stage of life and suggests that nasal mask ventilation is a viable option in selected cases with congenital central hypoventilation syndrome (CCHS).
我们治疗了一名患有先天性中枢性低通气综合征(“翁丁氏咒诅”)的婴儿。她出生后第一小时即出现青紫并接受了通气支持。在3个月大时进行的睡眠状态和呼吸调查得出了这一诊断结果。低通气在所有睡眠阶段均持续存在,其中潮气量在δ波睡眠(3期和4期)时减少最为严重。此外,在睡眠起始快速眼动睡眠期潮气量会出现严重的继发性减少。这种现象在非睡眠起始快速眼动睡眠期不存在。4个月大时,她的呼吸治疗成功转换为经鼻面罩正压通气,从而避免了气管切开术。这种向无创通气支持的转变显著改善了她清醒时的生活质量。本报告可能为探讨生命早期出现的睡眠起始快速眼动睡眠的功能提供线索,并表明经鼻面罩通气在先天性中枢性低通气综合征(CCHS)的特定病例中是一种可行的选择。