What question did this study set out to answer?

To highlight the occurrence of cystic pulmonary changes as a potential complication in Turner syndrome infants.

May 20, 2026American Journal of Respiratory and Critical Care Medicine0 citations

B60-16 Early Recognition of Cystic Pulmonary Changes in an Infant With Turner Syndrome: A Rare or Underrecognized Comorbidity?

Key Points

To highlight the occurrence of cystic pulmonary changes as a potential complication in Turner syndrome infants.
Case presentation of a 2-month-old with Turner syndrome undergoing cardiac surgery
Utilized CT imaging and bronchoscopy to assess pulmonary complications
Monitored respiratory management postoperatively including airway clearance therapy
Patient developed cystic pulmonary lesions postoperatively, identified via CT imaging
Bronchoscopy revealed pneumonia and bronchitis alongside lesions
Effective respiratory management leading to extubation on postoperative day 15

Abstract

Abstract Introduction Turner syndrome is a chromosomal disorder characterized by multisystem anomalies, including cardiovascular and lymphatic abnormalities. Pulmonary complications are rarely described in infancy and may be underrecognized. Recent reports suggest that bullous or cystic lung changes can result from impaired lymphatic drainage inherent to Turner syndrome. We present a 2-month-old female with Turner syndrome who was found to have cystic pulmonary lesions during hospitalization for congenital heart repair. Case Description A 2-month-old female with Turner syndrome, a unicuspid aortic valve, and aortic stenosis underwent aortic arch reconstruction and valvotomy, complicated by cardiac arrest requiring extracorporeal membrane oxygenation (ECMO). After decannulation and extubation, she was initially stable on room air. The following day, she developed acute hypoxic respiratory distress and required re-intubation. Bronchoscopy on postoperative day 4 showed pneumonia and bronchitis; a right pneumothorax developed on postoperative day 5, necessitating chest drainage. Repeat bronchoscopy on postoperative day 13 revealed left-sided bronchitis. CT imaging obtained the same day demonstrated multifocal confluent alveolar opacities and multiple cystic lesions in the left upper and lower lobes, accompanied by a small pneumomediastinum and left pleural effusion. These findings raised suspicion for bullous lung disease secondary to Turner-associated lymphatic dysfunction. She was extubated on postoperative day 15 with aggressive airway clearance therapy, including scheduled chest physiotherapy and bronchodilator treatments. Discussion This case highlights bullous lung disease as an emerging pulmonary manifestation of Turner syndrome, possibly due to congenital lymphatic maldevelopment leading to localized air trapping and alveolar cyst formation. The diagnosis is particularly challenging in postoperative infants with complex cardiac anatomy, where pulmonary findings may be misattributed to infection or ventilator injury. Recognition of this entity is essential for optimizing respiratory management and avoiding unnecessary interventions. Our patient represents one of the youngest reported cases of suspected Turner-associated bullous disease, underscoring the need for early imaging evaluation and longitudinal follow-up in this high-risk population. This abstract is funded by: None

اسأل الذكاء الاصطناعي

Bookmark

View Full Paper