Abstract：
Congenital disorders of ventilatory control typically manifest as central apneas, periodic breathing, and hypoventilation in the neonatal period, but some may present at a later age. Obstructive apneas may be the initial presentation, and some may have associated autonomic nervous system dysfunction. Individuals with these disorders can have absent or impaired ventilatory and arousal responses to hypoxemia and hypercapnia. This article discusses the presentation, pathophysiology, evaluation, and management of congenital central hypoventilation syndrome, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome, Prader-Willi syndrome, and myelomeningocele.
摘要：
先天性通气控制障碍通常表现为中枢呼吸暂停，周期性呼吸,新生儿期通气不足，但有些人可能会在以后的年龄出现。阻塞性呼吸暂停可能是最初的表现，和一些可能有相关的自主神经系统功能障碍。患有这些疾病的个体对低氧血症和高碳酸血症的通气和唤醒反应可能缺失或受损。本文讨论了演示文稿，病理生理学,评估，先天性中枢通气不足综合征的治疗，快速发作的肥胖与下丘脑功能障碍，通气不足,和自主神经失调（ROHHAD）综合征，Prader-Willi综合征,和脊髓膜膨出。
