Yildirim Selman Vefa, Durmaz Cemile, Pourbagher Mir Ali, Erkan Alper Nabi
Division of Pediatric Cardiology, Adana Teaching and Research Center, Başkent University, Adana, Turkey.
Eur Arch Otorhinolaryngol. 2006 Aug;263(8):775-7. doi: 10.1007/s00405-006-0042-x. Epub 2006 May 3.
Achondroplasia is the most common skeletal dysplasia in children. Achondroplasic patients have a short cranial face and midface hypoplasia. They often have sleep-related respiratory disturbances that lead to hypoxemia caused by midfacial hypoplasia, a small upper airway, hypotonia of airway muscles, or brain stem compression. It has been well described that obstructive sleep apnea can cause pulmonary hypertension (PH) through the mechanism of chronic hypoxemia. However, severe PH due to obstructive-type sleep disorder is rare in patients with achondroplasia. In this report, we describe a 5-year-old girl with achondroplasia whose severe PH was caused by upper-airway obstruction and was resolved gradually after adenotonsillectomy.
软骨发育不全是儿童中最常见的骨骼发育异常。软骨发育不全患者有短颅面和中面部发育不全。他们常伴有与睡眠相关的呼吸障碍，这是由中面部发育不全、上呼吸道狭小、气道肌肉张力减退或脑干受压导致低氧血症引起的。已有充分描述表明，阻塞性睡眠呼吸暂停可通过慢性低氧血症机制导致肺动脉高压（PH）。然而，阻塞型睡眠障碍导致的严重PH在软骨发育不全患者中较为罕见。在本报告中，我们描述了一名5岁软骨发育不全女童，其严重PH由上呼吸道梗阻引起，在腺样体扁桃体切除术后逐渐缓解。
