INTRODUCTION: This case involves discussions regarding congenital lung abnormalities manifesting in young adults, Swyer-James syndrome, bronchiolitis, emphysema, and the role for surgical (pneumonectomy, lung volume reduction surgery) and non-surgical (endobronchial balloon) therapy of unilateral emphysema. The case will include radiography, pulmonary function tests, a cardiopulmonary exercise test, .mpeg files of an abnormal bronchoscopy and pathology (from pneumonectomy). Discussions regarding management of the case included both pediatric and adult pulmonologists and surgeons.
CASE PRESENTATION: This patient is a 17-year-old female who presented for evaluation of an abnormal X-ray detected after her primary care physician observed asymmetric breath sounds on routine physical examination. She described herself as an active teenager who had no previous medical problems. Her chief complaint was dyspnea when walking up large hills. Her past medical and surgical history was benign. She rode horses in her spare time and played Lacrosse. Her physical examination was notable for normal oxygenation but markedly diminished breath sounds on the right. Her chest X-ray demonstrated cystic lesions on the right and hyperinflation with distortion of the parenchyma. This was confirmed by CT imaging. Pulmonary function testing revealed an obstructive defect with hyperinflation. A V/Q scan revealed a right/left discrepancy in ventilation (13/87) and perfusion (22/78). A 6-minute walk and subsequent cardiopulmonary exercise test revealed reduced exercise tolerance. Surgical consultation ensued and with time (two-year follow-up), the patient's chest CT demonstrated progressive cystic changes and hyperinflation with mediastinal shift to the left. There was marked shift of the heart during inspiration and exhalation with dramatic CT imaging demonstrating these changes. After multiple discussions with the patient, her family, pulmonologists at three institutions (both adult and pediatric), and cardiothoracic surgeons, a right-sided pneumonectomy was performed. The pathology demonstrated acute and chronic bronchitis with bronchiolitis, emphysematous changes, cysts focally associated with cartilage and bone (hamartomatous changes) and pleural adhesions with acute and chronic pleuritis. She was felt to have Swyer-James (Macleod) syndrome. A few months after her pneumonectomy, she developed progressive worsening of her shortness of breath. This was detected by her mother who described her as having a “Darth Vader” voice. The CT demonstrated a signficant shift of her heart, this time into her right chest and site of pneumonectomy. She was diagnosed as having the post-pneumonectomy syndrome. She subsequently underwent thoracoscopic placement of saline-filled implants into her right thoracic cavity, resulting in clinical improvement of her symptoms.
DISCUSSIONS: This case highlights two rare disease states: Swyer-James syndrome and the post-pneumonectomy syndrome. Swyer-James (Macleod) syndrome presents radiographically as unilateral hyperlucency. Morphologically it is characterized by bronchiolitis obliterans with dilation and destruction of alveolar structures resulting in hypoperfusion and signficant air trapping. Etiologies include infectious, inhalational and aspiration. The progressive symptoms and mediastinal shift in this patient led to treatment requiring a pneumonectomy. A pneumonectomy performed in childhood usually requires placement of tissue expanders in the thoracic cavity. Adults usually do not require this yet rarely develop complications related to the profound mediastinal shift that occurs in the so-called post-pneumonectomy syndrome. As evidenced in this case, there may be a marked rightward deviation of the mediastinum with herniation of the remaining lung into the contralateral chest. Marked compression of the distal trachea and left main bronchus may lead to dyspnea and abnormal breath sounds, as detected by this patient's mother. Intrathoracic expandable prostheses may be implanted. In this case, both operations were accomplished by a skilled surgeon thoracoscopically.
CONCLUSION: The Swyer-James syndrome is a unique entity which may be managed by both adult and pediatric pulmonologists and surgeons. This rare case was complicated by a rare post-operative complication. The post-pneumonectomy syndrome was treated by thoracoscopic placement of saline-filled implants.
DISCLOSURE: Jonathan Puchalski, None.