Allergy, Asthma & Respiratory Disease

The Korean Academy of Asthma, Allergy and Clinical Immunology (대한천식알레르기학회)
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A 23-year-old female with Down syndrome accompanied by obstructive sleep apnea and acute respiratory failure

급성호흡부전이 발생한 다운증후군 23세 여자에서 진단된 폐쇄성 수면무호흡증 1예

  • Seungjae Lee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Joowon Lee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kyunghoon Kim (Department of Pediatrics, Seoul National University College of Medicine)
  • 이승재 (서울대학교 의과대학 소아청소년과) ;
  • 이주원 (서울대학교 의과대학 소아청소년과) ;
  • 김경훈 (서울대학교 의과대학 소아청소년과)
  • Received : 2023.10.11
  • Accepted : 2023.11.09
  • Published : 2024.04.30
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Abstract

This case report details a 23-year-old female with Down syndrome who suffered from acute respiratory failure due to severe obstructive sleep apnea syndrome and accompanying pulmonary arterial hypertension (PAH). The patient presented with obesity, adenotonsillar hypertrophy, and craniofacial anomalies commonly seen in Down syndrome, predisposing her to sleep-disordered breathing. Upon intensive care unit admission, she exhibited cardiomegaly, bilateral pulmonary edema, and right ventricular dysfunction. Polysomnography revealed severe sleep apnea with an apnea-hypopnea index of 108.7/hr. Treatment modalities included noninvasive positive pressure ventilation, diuretics, antibiotics, and positive airway pressure (PAP) devices to manage hypercapnia, pulmonary edema, and sleep apnea. PAH, a recognized complication of untreated sleep apnea, contributed to right ventricular dysfunction. A multidisciplinary approach was vital, with long-term management centered on continuous PAP therapy and comprehensive obesity management. This case underscores the intricate interplay between Down syndrome, sleep apnea, and PAH, highlighting the significance of early recognition and coordinated intervention in individuals with Down syndrome to enhance overall outcomes and quality of life.

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References

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