| 저자 |
Eu-Deum Kim1,2*, Gi-Wook Kim1,2, Sung-Hee Park1,2, Myoung-Hwan Ko1,2, Jeon-Hwan Seo1,2, Yu Hui Won1,2† |
Introduction
Children with Prader-Willi syndrome (PWS) often have sleep disordered breathing (SBD) and develop respiratory failure. They are at increased risk for SDB due to hypotonia and facial dysmorphism. We report case series of PWS showing dyspnea and cyanosis in daytime and treated successfully with noninvasive ventilation (NIV) during night.
Case report
Case 1 A 11-year-old boy with PWS (body mass index, BMI 30.2) showed dyspnea, orthopnea, excessive sleepiness, sweating and cyanosis at daytime 5 months after scoliosis surgery. Sleep O2 and CO2 monitoring revealed severe hypoxia and hypercapnia. Minimum and mean SpO2 were 50% and 89%, respectively during sleep. Maximum and mean transcutaneous CO2 were 71.6mmHg and 62.6mmHg, respectively. Polysomnography (PSG) showed severe obstructive sleep apnea (OSA) (apnea / hypopnea index, AHI 91.2). Pulmonary hypertension was detected on echocardiography. Nasal noninvasive ventilation with bi-level positive airway pressure (BiPAP) was initiated. We used ventilator settings with an inspiratory positive airway pressure (IPAP) of 20cmH2O and expiratory positive airway pressure (EPAP) 5 cmH2O, and respiratory rate (RR) of 18. The symptoms were improved after use of overnight NIV.
Case 2 A 18-year-old girl with PWS with a history of scoliosis correction at 12 was hospitalized due to daytime somnolence, hypoxia, cyanosis, and syncope. The patient showed severe obesity of BMI 49.2, also, hypoventilation, severe resting pulmonary hypertension, and cor pulmonale. PSG showed moderate obstructive sleep apnea (AHI 15.8, mean SaO2 89%, minimal SaO2 50%). After 18-days of critical care, obesity related hypoventilation was improved with use of NIV via oronasal mask (BiPAP, IPAP = 20mH2O, EPAP = 5mH2O, RR 16) 10-hours during sleep.
Case 3 A 13- year-old boy with PWS developed exertional dyspnea after 6 months of scoliosis correction surgery (BMI 43.3). The results of sleep monitoring and PSG showed severe hypoxia, hypercapnea and severe OSA (AHI 33.9), and symptoms improved after use of NIV via oronasal mask during sleep. NIV setting was synchronized intermittent mandatory ventilation with pressure (P-SIMV) mode, IPAP = 10mH2O, EPAP = 5mH2O, RR 16, and pressure support at 6cm H2O.
Discussion
When detectable symptoms of hypoventilation appear during daytime, the advanced respiratory failure already occurred in patients with PWS, especially after scoliosis operation and with obesity. However, it is challenging to evaluate respiratory status with pulmonary function test because of patient’s poor cooperation. Therefore, specific guideline of pulmonary evaluations such as routine PSG for PWS patients will be needed.
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