Congenital pulmonary airway malformation or pulmonary sequestration with ipsilateral foregut cyst-inevitable association or coincidence?

OBJECTIVE

To investigate the clinical features, diagnosis, and treatment of Congenital Pulmonary Airway Malformation (CPAM) or Pulmonary Sequestration (PS) combined with ipsilateral Foregut Cyst (FC), and to analyze its association with the Bronchopulmonary Foregut Malformation (BPFM) spectrum.

METHODS

A single-center retrospective study was conducted. Among 775 children with surgically and pathologically confirmed CPAM/PS between January 2018 and July 2025, 20 cases with coexisting ipsilateral FC were selected. Their clinical, imaging, and pathological data were systematically analyzed, and the rate of preoperative imaging missed diagnosis of FC was assessed.

RESULTS

The incidence of CPAM/PS with ipsilateral FC was 2.58% (20/775). The median age of the children was 11 months, with a prenatal detection rate of 70%. The overall missed diagnosis rate for FC on preoperative CT was 20% (4/20), and this rate was significantly higher in the PS group (44.44%, 4/9) compared to the CPAM group (0%, P = 0.033). All cases showed ipsilateral distribution. Pathological analysis revealed that PS was more frequently associated with esophageal cysts (7/9), while CPAM was more often associated with bronchogenic cysts (12/13); this association was statistically significant (P = 0.017). All children successfully underwent thoracoscopic surgery. The average postoperative hospital stay was (5.55 ± 2.72) days, with no recurrence during follow-up.

CONCLUSION

The co-occurrence of CPAM/PS with ipsilateral FC is not rare and is prone to preoperative missed diagnosis, particularly when associated with PS. The constant ipsilateral distribution and the specific pathological type association (PS-esophageal cyst, CPAM-bronchogenic cyst) strongly support a common embryological origin from the foregut, providing significant clinical evidence for classifying such combined malformations within the BPFM spectrum. Recognizing these characteristics is crucial for guiding comprehensive preoperative evaluation and definitive one-stage surgical management.