Department of Respiratory Medicine, St. Vincent's University Hospital, Dublin, Ireland.
Respirology. 2010 Feb;15(2):377-9. doi: 10.1111/j.1440-1843.2009.01681.x.
Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate/severe OSAS with an AHI of 33 events/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.
Melnick 针综合征（MNS）、Treacher Collins 综合征（TCS）和 Pierre Robin 综合征（PRS）是具有特征性面部外观的先天性异常，包括小下颌。一名 20 岁的 MNS 女性、一名 16 岁的 TCS 男性和一名 12 岁的 PRS 女性分别在不同时间到我们机构的睡眠呼吸暂停诊所就诊。最初对所有三名患者进行了诊断性睡眠研究，以确认阻塞性睡眠呼吸暂停综合征（OSAS）的诊断。随后，他们开始接受鼻持续气道正压通气（nCPAP）治疗，并对其进展情况进行了随访。对 MNS 患者进行的有限睡眠研究显示中重度/重度 OSAS，呼吸暂停低通气指数（AHI）为 33 次/小时。开始使用 nCPAP 后，症状得到改善。对 TCS 患者进行的夜间血氧饱和度监测显示反复出现血氧饱和度<90%的情况。随后通过 nCPAP 治疗几乎完全消除了缺氧事件。对 PRS 患者进行的夜间多导睡眠图显示严重 OSAS，AHI 为 49 次/小时。在接受 nCPAP 治疗 3 年后，该患者要求停止治疗。随后未使用 nCPAP 的多导睡眠图显示 AHI<5 次/小时。MNS 和 TCS 患者使用 nCPAP 可有效控制其睡眠异常。下颌生长和后气道空间扩大导致 PRS 患者的 OSAS 得到解决。对于先天性小下颌和 OSAS 患者，nCPAP 治疗具有明确的作用。使用 nCPAP 可能避免需要更具侵入性的 OSAS 矫正手术，且不一定是终身需要。
