Yoon Ju-Yul, Park Sung-Hee, Won Yu Hui
Department of Physical Medicine and Rehabilitation, Jeonbuk National University Medical School, Jeonju 54907, Jeonbuk, South Korea.
World J Clin Cases. 2021 Nov 16;9(32):9960-9969. doi: 10.12998/wjcc.v9.i32.9960.
Sleep-disordered breathing, including hypoventilation and obstructive sleep apnea, is often observed in Prader-Willi syndrome (PWS). Particularly in adolescence, scoliosis causes a progressive restrictive pulmonary pattern, leading to hypoventilation, so timely corrective surgery is required. However, the effect is controversial. In addition, since mental retardation of PWS, patient effort-based respiratory tests may be less reliable. So far, no studies have accurately reported on the comparison of respiratory function before and after corrective surgery, and appropriate respiratory function measurement method in PWS.
We present two cases of adolescent PWS with typical characteristics, including obesity, mental retardation, and scoliosis. Two boys, aged 12 and 13, diagnosed with PWS, both underwent scoliosis correction surgery. Before and immediately after surgery, arterial blood tests showed no abnormalities and no respiratory symptoms occurred. However, after 6-7 mo, both patients complained of daytime sleepiness, difficulty sleeping at night, dyspnea on exertion, and showed cyanosis. Hypercapnia and hypoxia were confirmed by polysomnography and transcutaneous CO monitoring during sleep and were diagnosed with obstructive sleep apnea and alveolar hypoventilation. It was corrected by nighttime noninvasive ventilation application and normal findings of arterial blood gas were maintained after 6-8 mo follow-up.
Even after scoliosis surgery, "periodic" monitoring of respiratory failure with an "objective" test method is needed for timely respiratory support.
普拉德-威利综合征（PWS）患者常出现睡眠呼吸障碍，包括通气不足和阻塞性睡眠呼吸暂停。尤其是在青少年时期，脊柱侧弯会导致进行性限制性肺通气模式，进而引起通气不足，因此需要及时进行矫正手术。然而，其效果存在争议。此外，由于PWS患者存在智力障碍，基于患者自身努力的呼吸测试可能不太可靠。到目前为止，尚无研究准确报道矫正手术前后呼吸功能的比较以及PWS患者合适的呼吸功能测量方法。
我们报告了两例具有典型特征的青少年PWS患者，包括肥胖、智力障碍和脊柱侧弯。两名男孩，年龄分别为12岁和13岁，被诊断为PWS，均接受了脊柱侧弯矫正手术。手术前及术后即刻，动脉血气检查无异常，也未出现呼吸症状。然而，6 - 7个月后，两名患者均主诉白天嗜睡、夜间睡眠困难、活动时呼吸困难，并出现发绀。通过多导睡眠图和睡眠期间经皮二氧化碳监测证实存在高碳酸血症和低氧血症，诊断为阻塞性睡眠呼吸暂停和肺泡通气不足。通过夜间应用无创通气进行了矫正，随访6 - 8个月后动脉血气维持正常。
即使在脊柱侧弯手术后，也需要采用“客观”测试方法对呼吸衰竭进行“定期”监测，以便及时提供呼吸支持。
