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SWYER-JAMES SYNDROME: A CAUSE OF ADULT ONSET DYSPNEA IN A PATIENT WITH ADULT POLYCYSTIC KIDNEY DISEASE

      TOPIC: Signs and Symptoms of Chest Diseases
      TYPE: Fellow Case Reports
      INTRODUCTION: Swyer-James syndrome (SJS) is a rare disease characterized by lung hypoplasia. It is thought to be caused by post-infectious bronchiolitis obliterans in infancy leading to abnormal growth of the affected lung. Epidemiological studies estimate that the prevalence of SJS is very low, around 0.01% of the population1. Affected individuals might not developed respiratory symptoms until later in life. We report a case of SJS in a patient with adult polycystic kidney disease (ADPKD) presenting with adult onset dyspnea.
      CASE PRESENTATION: A 35-year-old male, never smoker, with past medical history of color blindness, ADPKD at the age of 24 (positive family history), was referred to the pulmonary clinic with progressively worsening shortness of breath. He did not endorse any childhood history of recurrent respiratory infections or any occupational or exposure history. His physical exam was noticeable for decreased air entry in the left lung fields with fine scattered rales. A chest radiograph (CXR) revealed left lung volume loss with opacities and reticulations and a left mediastinal shift with an hyperinflated right lung. A Computed Tomography (CT) scan of his chest showed a hypoplastic left lung with basilar reticulations, pulmonary fibrosis, and cystic airspace disease with a hypoplastic left pulmonary artery. A Ventilation-perfusion (V/Q) scan showed significantly reduced perfusion and ventilation of the left hypoplastic lung. Spirometry revealed moderated obstruction with a positive bronchodilator response. Lung volumes were at the lower limit of normal with mild reduction in DLCO. Testing revealed no alpha-one-antitrypsin deficiency, cystic fibrosis, or any immune deficiency. He patient was diagnosed with SJS due to his hypoplastic left lung with reversible airway obstruction. His imaging did not show any bronchiectasis. He was started on inhalers with improvement of his symptoms.
      DISCUSSION: SJS is a rare pulmonary disease that might manifest later in life. Most patients report recurrent respiratory infections2. Around half of them will have evidence of obstructive airway disease on spirometry, bronchiectasis, and fibrosis on imaging, with a minority requiring surgical intervention2. Worse prognostic findings are the presence of saccular bronchiectasis2, which our patient does not have. There is evidence that patients with ADPKD have a higher prevalence of bronchiectasis but not hypoplastic lungs3. Both conditions the patient has -ADPKD and SJS- are unrelated. Having both conditions together is very rare, and we are not aware of any similar case reported in the literature.
      CONCLUSIONS: SJS is a rare cause of dyspnea and the hallmarks of the disease are mainly lung hypoplasia, airway obstruction, lung opacities on imaging and frequently bronchiectasis. It is thought to be the result of bronchiolitis obliterans after viral or bacterial infections in infancy.
      REFERENCE #1: Zylak CJ, Eyler WR, Spizarny DL, Stone CH. Developmental lung anomalies in the adult: radiologic-pathologic correlation. Radiographics. 2002 Oct;22 Spec No:S25-43. doi: 10.1148/radiographics.22.suppl_1.g02oc26s25. PMID: 12376599.
      REFERENCE #2: Lucaya, Javier; Gartner, Silvia; García-Peña, Pilar; Cobos, Nicolas; Roca, Isabel; Liñan, Santos Spectrum of Manifestations of Swyer-James-MacLeod Syndrome, Journal of Computer Assisted Tomography: July 1998 - Volume 22 - Issue 4 - p 592-597
      REFERENCE #3: Autosomal dominant polycystic kidney disease can be associated with lung abnormalities. Nat Rev Nephrol 4, 467 (2008). https://doi.org/10.1038/ncpneph0872
      DISCLOSURES: No relevant relationships by Himanshu Bhardwaj, source=Web Response
      No relevant relationships by Ahel El Haj Chehade, source=Web Response
      No relevant relationships by Abed Madanieh, source=Web Response
      No relevant relationships by Chirin Orabi, source=Web Response