Down syndrome, typically caused by Trisomy 21, is the most common chromosomal abnormality resulting in intellectual disability affecting 1 in 600-800 pregnancies worldwide. Respiratory problems are the leading cause of hospitalizations and excess mortality in DS, accounting for 42% of admissions through age 2 years. Respiratory issues include pulmonary vascular disease, recurrent respiratory infection, sleep-disordered breathing, airway abnormalities, or subpleural cysts. Abnormalities like craniofacial anomalies, developmental delay, chronic aspiration, and hypotonia contribute to the severity of respiratory issues. Independent of congenital heart defect status, the lungs of DS children have widened alveolar ducts, and fewer and enlarged alveoli. These alveolar changes along with connective tissue abnormalities are believed to contribute to the development of subpleural cysts found in up to 20-36% of DS children. The clinical significance of these cysts is variable. It is important for radiologists to be familiar with subpleural cysts associated with DS as it may prevent misdiagnosis with other serious conditions. Additionally, subpleural cysts may increase the risk for pneumothorax or parenchymal damage during mechanical ventilation or surgery. Generally, subpleural cysts are poorly seen on radiographs and have been primarily identified using CT. We present a 5 year old male with DS, born at 36 weeks gestation, who presented to the emergency room with cough, rhinorrhea, and fever. He had no history of respiratory issues and received routine vaccinations. Chest radiograph revealed bilateral apical predominant subpleural cystic lucencies, perihilar fullness, and peribronchial cuffing. He was diagnosed with acute upper respiratory infection and discharged home with symptomatic management and outpatient follow-up. Sedated CT of the chest two weeks later had findings of diffuse bilateral subpleural and perilymphatic cysts, small subpleural calcifications, and mild scattered interlobular septal thickening. Since he did not have respiratory issues at baseline or after his illness, there was less concern for progressive disease requiring intervention and he was managed with conservative monitoring. Our case highlights the importance of recognizing pulmonary manifestations frequently associated with DS to improve disease recognition and prevention of complications. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Bezzant Braydan, Guo Grace, Roberie Dustin

Keywords: Cystic Lung Disease