Keck School of Medicine of USC, Los Angeles, California.
Children's Hospital Los Angeles, Division of Pediatric Pulmonology and Sleep Medicine, Los Angeles, California.
J Clin Sleep Med. 2023 Sep 1;19(9):1697-1700. doi: 10.5664/jcsm.10634.
Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance.
Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. . 2023;19(9):1697-1700.
先天性中枢性肺泡通气不足综合征是一种罕见疾病，由基因发生突变引起，其特征是呼吸的自主控制功能出现障碍，对缺氧和高碳酸血症的反应减弱或消失，而在睡眠期间最为明显。大多数患者在出生时即存在中枢性呼吸暂停和通气不足，或在生理应激情况下发病。最近在发生突变的小鼠中的文献表明，由于舌下神经发育不全，存在阻塞性呼吸暂停的倾向。我们报告了 3 例以阻塞性睡眠呼吸暂停但通气不足较轻或不存在为主要表现的患者。我们的病例提示，阻塞性呼吸暂停可能是随后出现先天性中枢性肺泡通气不足综合征典型表型的患者的主要表现，强调了对这些患者的密切监测和随访。
Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.. 2023;19(9):1697-1700.
