Cystic Lung Changes in Down Syndrome: A Case Report

A wide spectrum of multi-organ complications have been associated with Down syndrome. Pulmonary complications are a leading cause of morbidity and mortality in Down syndrome. A four-year-old boy with Down syndrome presented to our emergency department with a cough and shortness of breath. He had signs of respiratory distress and decreased air entry in the right lung. A chest radiograph revealed airspace opacity and an air bronchogram in the right lung, both consistent with pneumonia. Oxygen saturation was not maintained on a non-rebreather mask, and the patient required admission to the intensive care unit, where he underwent intubation and mechanical ventilation. With the aggressive antibiotic therapy, the patient had improvements in terms of laboratory and radiographic findings. However, clinical symptoms persisted. Hence, a computed tomography (CT) scan was performed, which demonstrated findings of pulmonary edema and unexpected findings of subpleural cystic lung changes bilaterally with significant replacement of the right middle lobe with these cysts. Initially, these cysts caused significant confusion for the treating physicians and were misinterpreted as honeycombing changes related to end-stage lung disease. However, radiologists confirmed the incidental nature of these cysts in patients with Down syndrome. Appropriate recognition of this entity is crucial to avoid its misinterpretation, which may cause unnecessary laboratory and radiological investigations.