Swyer-James syndrome: A cause of adult-onset dyspnea in a patient with adult polycystic kidney disease

Abstract

Swyer-James syndrome (SJS) is a rare lung condition characterized by abnormal lung growth secondary to childhood post-infectious bronchiolitis obliterans. Usually, one lung is affected more than the other leading to asymmetrical lungs with one lung being significantly smaller. The disease can lead to pulmonary obstructive airflow physiology, bronchiectasis, and fibrosis. Dyspnea usually presents early on in infancy and symptoms can mimic asthma, however, they can go unnoticed until adulthood. We present a case of SJS in a patient with adult polycystic kidney disease (ADPKD) and color vision deficiency. The patient presented to our clinic for evaluation for progressively worsening dyspnea and cough. His imaging revealed a hypoplastic left lung with fibrosis, cystic airway disease, and a small left pulmonary artery. His spirometry revealed an obstructive defect. A Ventilation-Perfusion scan (V/Q) showed a significant reduction of ventilation and perfusion to his left lung confirming the diagnosis of SJS. Both conditions – SJS and ADPKD-are not pathologically or genetically related and are very rare. Having both conditions is even rarer yielding interesting radiological imaging.

Keywords

• Swyer-james syndrome
• Lung hypoplasia
• Bronchiectasis
• Adult polycystic kidney disease
• Dyspnea