先天性中枢性低通气综合征
通气不足
医学
儿科
内科学
呼吸系统
作者
Laura Lazzarini Wo,Reem Itani,Thomas G. Keens,Araz Marachelian,Jianling Ji,Iris A. Perez
出处
期刊:Journal of Clinical Sleep Medicine
[American Academy of Sleep Medicine]
日期:2023-06-01
卷期号:19 (6): 1161-1164
摘要
Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the PHOX2B gene. There have been case reports describing variable phenotypes and mutations of the PHOX2B gene, not commonly tested for, that may challenge the classic definition of CCHS. We report on 3 family members with a rare heterozygous deletion encompassing the entire PHOX2B gene with variable phenotypes, including sleep-disordered breathing and autonomic nervous system involvement, but an unexpected lack of alveolar hypoventilation, which is usually a defining feature of CCHS. Our cases highlight the dilemmas in making a diagnosis of CCHS and emphasize the need for expanded genetic testing, including for PHOX2B gene deletion. More patients with variable phenotypes of CCHS may be identified through comprehensive genetic testing and warrant surveillance as they are still at risk for high-risk complications of CCHS.Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome? J Clin Sleep Med. 2023;19(6):1161-1164.
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