Peculiar Respiratory Response Observed During Sleep-Onset REM Sleep of an Infant with Ondine's Curse

Abstract

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).

Early use of Nasal-BiPAP in two infants with Congenital Central Hypoventilation syndrome

“…During sleep, this device assists respiration by sending a bilevel positive pressure to induce an adequate drive with sufficient gas exchange. However, owing to the small number of reported paediatric patients with CCHS (6,12), it is not clear whether BiPAP can stimulate respiratory activity in these subjects. In our cases, we anticipated non-invasive ventilation with N-BiPAP during the second month of life.…”