Oren J, Kelly D H, Shannon D C
Pediatrics. 1987 Sep;80(3):375-80.
The long-term clinical course of six patients with congenital central hypoventilation syndrome is described. During the neonatal period, the patients had prolonged apneas and hypoventilation, in the absence of cardiac, pulmonary, or neuromuscular disease. After an initial period of respirator dependency, they became able to sustain normal gas exchange while awake. During sleep, however, profound hypoventilation developed, and tracheostomy and mechanical ventilation were required. Ventilatory responses to hypercapnia and hypoxia were depressed or absent and did not improve with time. One patient was able, at 2 years of age, to breathe spontaneously during sleep with only moderate hypoventilation. The others, now 4 to 14 years of age, still need ventilatory support during sleep. Complications, such as cardiac failure and hypoxic seizures, mostly occurred early in the course and resolved with correction of insufficient mechanical ventilation. Speech acquisition was possible with the use of a special stoma plug. All patients were managed at home, and with appropriate support, the parents were able to provide safe ventilatory care with low morbidity and no mortality.
本文描述了6例先天性中枢性低通气综合征患者的长期临床病程。在新生儿期，这些患者出现了长时间的呼吸暂停和通气不足，且不存在心脏、肺部或神经肌肉疾病。在经历了最初一段时间的呼吸机依赖后，他们在清醒时能够维持正常的气体交换。然而，在睡眠期间，严重的通气不足出现了，需要进行气管切开术和机械通气。对高碳酸血症和低氧血症的通气反应受到抑制或缺失，且不会随时间改善。1例患者在2岁时能够在睡眠中自主呼吸，仅伴有中度通气不足。其他患者现在4至14岁，仍需要在睡眠期间接受通气支持。诸如心力衰竭和缺氧性惊厥等并发症大多在病程早期出现，并随着机械通气不足的纠正而缓解。使用特殊的造口塞可以实现语言习得。所有患者均在家中接受管理，在适当的支持下，家长能够提供安全的通气护理，发病率低且无死亡病例。
