Zhu Jiwei, Jiao Qianqian, Sun Yunliang, Wang Ruixue, Liu Jianghua, Zhang Kai, Lu Manlu, Liu Lu, Yan Junhong, Yu Yan, Pan Lei
Department of Respiratory and Critical Care Medicine, Binzhou Medical University Hospital, Binzhou, China.
Department of Ultrasound, Binzhou Medical University Hospital, Binzhou, China.
Transl Pediatr. 2025 Mar 31;14(3):487-493. doi: 10.21037/tp-2024-537. Epub 2025 Mar 26.
Prader-Willi syndrome (PWS) is a rare genetic disorder associated with multiple diseases, including poor growth, genital hypoplasia, short stature, and sleep apnea syndrome (SAS). Sleep-disordered breathing is common in PWS and is often ignored by clinicians. This paper reports a patient with PWS complicated with severe obstructive sleep apnea (OSA).
A 13-year-old male patient was admitted to the hospital due to ptosis, lethargy, and weight gain. Polysomnography (PSG) showed OSA and severe hypoxemia. Imaging examination showed scoliosis. Laboratory tests suggested that the patient had metabolic dysfunction. Finally, PWS was diagnosed by chromosome karyotype and gene analysis. The patient's obesity and OSA represented contraindications to growth hormone. After continuous positive airway pressure (CPAP) treatment, the patient's sleep apnea symptoms and height were significantly improved, apnea-hypopnea index (AHI) index was significantly decreased, peripheral oxygen saturation was increased, and his height increased by 4 cm. At present, the patient has been treated with growth hormone after exclusion of contraindications.
This case reports a patient with PWS with severe OSA who had improved height after CPAP treatment alone. This patient's diagnosis had been delayed due to differences in medical education and medical level among the treating physicians. Timely diagnosis and treatment can improve the quality of life of children.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，与多种疾病相关，包括生长发育不良、生殖器发育不全、身材矮小和睡眠呼吸暂停综合征（SAS）。睡眠呼吸障碍在PWS中很常见，但常被临床医生忽视。本文报告了1例合并严重阻塞性睡眠呼吸暂停（OSA）的PWS患者。
一名13岁男性患者因上睑下垂、嗜睡和体重增加入院。多导睡眠图（PSG）显示存在OSA和严重低氧血症。影像学检查显示脊柱侧凸。实验室检查提示患者存在代谢功能障碍。最终通过染色体核型和基因分析确诊为PWS。患者的肥胖和OSA构成了生长激素治疗的禁忌证。经持续气道正压通气（CPAP）治疗后，患者的睡眠呼吸暂停症状和身高明显改善，呼吸暂停低通气指数（AHI）显著降低，外周血氧饱和度升高，身高增加了4厘米。目前，该患者在排除禁忌证后已接受生长激素治疗。
本病例报告了1例合并严重OSA的PWS患者，其仅通过CPAP治疗后身高得到改善。由于治疗医师之间医学知识和医疗水平的差异，该患者的诊断有所延迟。及时诊断和治疗可提高儿童的生活质量。
