Ciencias de la Salud

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    “Insuficiencia respiratoria a causa del sindrome de prader willi”
    (Carrera de Medicina, 2019-06-01) Mier González, Jonathan Fabricio; Silva Tirado, Mónica Paulina, Dra. Esp.
    A 22-year-old female patient, oxygen dependent, with a history of Prader Willi syndrome, morbid obesity, severe scoliosis, chronic respiratory insufficiency, primary amenorrhea, intellectual disability of 79% and paravertebral prosthesis placement. Five years ago he presented with progressive dyspnea from large to small efforts, gasometric controls showed hypoxemia, spirometry showed a severe restrictive spirometric pattern, condition associated with thoracic cavity deformation, home oxygen plus respiratory physiotherapy was established. During the evolution of his disease, his respiratory condition was re-evaluated due to worsening of symptoms, polysomnography was performed, which reported apnea-hypopnea syndrome of mild postural sleep, in addition to an echocardiogram where pulmonary hypertension and grade III tricuspid insufficiency were diagnosed. postural changes during sleep, expectant management and serial controls. 1 year ago, the patient presented with exacerbation of the respiratory symptoms, presenting oxygen desaturation of less than 60% with FiO 21%, was diagnosed with pulmonary thromboembolism by pulmonary angiography, so anticoagulant therapy was started, while at the same time, hypercoagulability of autoimmune etiology was ruled out. Without further check-ups, the patient suffers cardiorespiratory arrest at home, dying six months later.