Shi Minghan, Biman Birubi
Thunder Bay Regional Health Sciences Centre, 980 Oliver Rd, Thunder Bay, Ontario, P7B 6V4, Canada.
NOSM University, 955 Oliver Rd, Thunder Bay, Ontario, P7B 5E1, Canada.
Respir Med Case Rep. 2025 Apr 21;55:102220. doi: 10.1016/j.rmcr.2025.102220. eCollection 2025.
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway. Definitive management with surgery is high risk, only performed in the highly specialized centers, and by the time they develop respiratory failure they may not be a candidate for surgery due to difficulty intubation. Consequently, they often end up with long term BiPAP dependent and suffer from side effects of abdominal, facial pain and depression. Heliox is low density gas mixture which can facilitate oxygen delivery in narrowed airway. Here we report a case of Morquio A syndrome patient with 24-h BiPAP dependence and successfully treated with Heliox and weaned off BiPAP for 4 hours a day with improved quality of life.
莫尔基奥A综合征是一种黏多糖沉积病，患者可能因多糖沉积导致气道狭窄、气道解剖结构变形和受压而出现呼吸衰竭。手术的确定性治疗风险很高，仅在高度专业化的中心进行，而当患者出现呼吸衰竭时，由于插管困难，他们可能不适合手术。因此，他们最终往往长期依赖双水平气道正压通气（BiPAP），并遭受腹部、面部疼痛和抑郁等副作用。氦氧混合气是一种低密度气体混合物，可促进在狭窄气道中输送氧气。在此，我们报告一例长期依赖24小时BiPAP的莫尔基奥A综合征患者，经氦氧混合气成功治疗，每天脱机BiPAP 4小时，生活质量得到改善。
