Division of Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Department of Pediatrics, Keck School of Medicine of University of Southern California, Los Angeles, California.
J Clin Sleep Med. 2023 Jun 1;19(6):1161-1164. doi: 10.5664/jcsm.10512.
Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the gene. There have been case reports describing variable phenotypes and mutations of the 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 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 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? . 2023;19(6):1161-1164.
先天性中枢性低通气综合征（CCHS）是由 基因的致病性变异引起的一种罕见疾病。已经有病例报告描述了 基因的可变表型和突变，这些突变通常不会进行检测，这可能会挑战 CCHS 的经典定义。我们报告了 3 名家族成员，他们携带罕见的杂合性缺失，涵盖了整个 基因，表现出不同的表型，包括睡眠呼吸障碍和自主神经系统受累，但出人意料的是没有肺泡低通气，这通常是 CCHS 的一个特征。我们的病例突出了 CCHS 诊断中的困境，并强调需要进行扩展的基因检测，包括 基因缺失。通过全面的基因检测，可能会发现更多具有不同表型的 CCHS 患者，由于他们仍然存在 CCHS 的高风险并发症风险，因此需要进行监测。
Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. 先天性中枢性低通气综合征而无低通气：是否为先天性中枢性低通气综合征？. 2023;19(6):1161-1164.
