Subpleural pulmonary cysts in children: Associations beyond Trisomy 21

Area of Science:

• Pediatric Pulmonology
• Medical Imaging
• Genetics

Background:

• Peripheral subpleural cysts on CT scans are known in Trisomy 21.
• Their association with other conditions is anecdotally reported, with unknown significance.

Purpose of the Study:

• To investigate the pathogenesis of peripheral subpleural cysts in children.
• To explore associations with genetic and cardiac conditions.

Main Methods:

• Retrospective review of 16 pediatric cases with subpleural cysts on CT chest.
• Analysis of cyst distribution, location, and co-morbidities including cardiac abnormalities and pulmonary artery hypertension (PAH).
• Review of clinical details, genetic associations, and histopathological data.

Main Results:

• 69% of cases had genetic abnormalities (6 with Trisomy 21); 21% had miscellaneous disorders.
• Common co-morbidities included cardiac abnormalities (81%) and PAH (62.5%).
• Cysts were bilateral in 88%, showed postnatal development, and were associated with significant mortality (31%) and chronic hypoxia.

Conclusions:

• Subpleural cysts are not exclusive to Trisomy 21, appearing in various genetic and acquired conditions.
• Likely related to altered alveolar growth, these cysts may signal developmental disorders, particularly in children with congenital heart disease.
• Clinical impact varies, with some cases resolving after correction of underlying issues.