Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario.
Can Respir J. 2011 Mar-Apr;18(2):87-9. doi: 10.1155/2011/989741.
Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.
先天性中枢性肺泡换气不足综合征是一种罕见的遗传性疾病，其特征是在睡眠中出现肺泡换气不足，这是由于对高碳酸血症和缺氧反应迟钝所致。本病例报告描述了一对发育正常的四岁同卵双胞胎男孩，他们在婴儿期表现出不同的临床表现和先天性中枢性肺泡换气不足综合征的临床严重程度。两人均采用无创正压通气治疗。
