Disclosures: Eytan Rosenbloom, DO: No financial relationships or conflicts of interest

Case Diagnosis: A 28 year old female with Emery-Dreifuss Muscular Dystrophy (EDMD), obstructive sleep apnea on Continuous Positive Airway Pressure (CPAP), scoliosis and atrial fibrillation.

Case Description: The patient presented with progressively worsening pleuritic chest pain and dyspnea. Upon arrival to the Emergency Department, she was hypotensive to 86/60 millimeters of mercury, tachycardic to 104 beats per minute and tachypneic. Chest x-ray showed a moderate-sized right side spontaneous pneumothorax. A pigtail catheter was placed followed by pleurodesis with improvement in symptoms and the patient was discharged home safely. Five months later, the patient had worsening dyspnea and pleuritic chest pain. She was found to have a moderate left-sided pneumothorax. Her hospital course was complicated by hypercapnic respiratory failure requiring intubation. A chest tube was inserted and pleurodesis was performed, with improvement of her respiratory status. She was subsequently extubated and discharged home.

Setting: Tertiary Care HospitalAssessment/

Results: Shortly after discharge, the patient had close pulmonary follow-up. Pulmonary function tests (PFT) were measured at a recent neuromuscular clinic visit and revealed that her functional vital capacity had worsened and decreased from 30% to 15% since her last testing two years earlier.

Discussion: EDMD is a rare muscular dystrophy characterized by disproportionate joint contractures and spinal rigidity, slowly progressive weakness and cardiac abnormalities. Morbidity and mortality in these patients are most often due to cardiac dysfunction. However, EDMD patients can also develop respiratory failure due to respiratory muscle weakness or chest deformity and often require the use of non-invasive ventilation (NIV). A pneumothorax is a well-known complication of NIV, and we suspect that the etiology of this patient’s recurrent pneumothoraces was due to her CPAP use.

Conclusion: This case highlights that pneumothorax can be a serious complication of mechanical NIV use. EDMD patients who require NIV should have close pulmonary follow-up and frequent PFTs.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/recurrent-pneumothorax-in-an-emery-dreifuss-muscular-dystrophy-patient-a-case-report/