Untersuchungen der Atemregulation bei zentralem alveolärem Hypoventilations-Syndrom ohne und mit Zwerchfellschrittmacher

Abstract

Primary central alveolar hypoventilation (CAHV) is a rare disorder described in newborns, children, and adults. We report a 2 9/12 year old child with CAHV of unknown etiology. The evaluation of her ventilatory control system showed abnormalities awake and in the different sleep states. Hypoventilation was found to be more severe during non-REM sleep than during REM sleep and awake state. She had central apnea, an irregular respiratory rhythm in the non-REM sleep too, and diminished ventilatory response to inhaled 5%-6% CO2 in both REM and non-REM sleep. Her ventilation decreased when she was breathing 50% and 100% oxygen. During breathing 15% oxygen she did not arouse in spite a transcutaneous pO2 of 10 mmHg. She was first treated with mechanical ventilation during sleep and has now received bilateral simultaneous phrenic pacemaker support during quiet sleep for about one year. With the phrenic pacemaker she has normal minute volume and transcutaneous blood gases during sleep. During a respiratory infection she needed again mechanical ventilation via her tracheostoma 24 hours a day for one week. This case of a CAHV demonstrates a dysfunction of the central and partially also of the peripheral chemoreceptors. The abnormalities of the ventilation were demonstrable not only in the non-REM sleep but also in the REM sleep and awake state.

Ondine's Curse: A Discussion of Five Cases

“…Hypercapnia is detected by central chemoreceptors and hypoxemia is detected by peripheral carotid chemoreceptors. Sufferers from Ondine's curse lack ventilatory and arousal sensitivity to hypercapnia and their sensitivity to hypoxemia varies (10,28,31,32,35). The histological findings vary considerably.…”

“…Nevertheless, this technic can lead to diaphragmatic exhaustion, and histologic changes in the phrenic nerve. The two main inconveniences are that the tracheostomy must be retained because of the risk of obstructive pauses due to functional asynchrony of the muscles of the diaphragm and of the pharyngeal genioglossus, and infants must be stimulated bilaterally (4,10,11,17,27).…”

Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: Delayed diagnosis and successful noninvasive treatment

“…Hypoventilation in CCHS is a consequence of low tidal volumes in most cases [4,25] and is most pronounced during non R E M sleep [2,5,21]. Disturbed central and peripheral chemoreceptor function has been described in CCHS patients [2,4,10,11,25], but recently an inadequate central integration of chemoreceptor signals has >ecome most likely to be responsible for the disease 116].…”

“…Disturbed central and peripheral chemoreceptor function has been described in CCHS patients [2,4,10,11,25], but recently an inadequate central integration of chemoreceptor signals has >ecome most likely to be responsible for the disease 116]. A n association with other autonomic disorders, es>ecially Hirschsprung disease (HD), has frequently been )bserved and has led to the assumption of a c o m m o n "ause (neurocristopathy) of these disorders [6,7,18,24,26].…”