Unilateral pulmonary agenesis is a rare congenital anomaly with an incidence of 1:15,000, affecting both sides and sexes equally. It's classified by Schneider-Schwalbe (Types 1–3) and Boyden systems (Groups 1–3) based on developmental severity. Children commonly experience recurrent respiratory tract infections and breathing difficulties due to aberrant tracheal function and increased vulnerability from airway constriction. A 9-year-old male presented with fever and nonproductive cough. Physical examination revealed severe malnutrition (weight and BMI < -3Z score) with tracheal deviation, decreased left chest movement, dullness to percussion, and diminished breath sounds on the left side. Chest X-ray showed complete left hemithorax opacification with mediastinal shift. High-resolution computed tomography revealed left lung aplasia with compensatory right lung hyperinflation. Computed tomography pulmonary angiogram (CTPA) confirmed left pulmonary artery agenesis. Bronchoscopy demonstrated hypoplastic left bronchial tree with blind-ending left main bronchus and tracheal bronchus supplying the right upper lobe. The patient was treated with antibiotics for secondary infection, chest physiotherapy, inhaled corticosteroids, and nutritional support. This rare congenital anomaly highlights the importance of advanced imaging in diagnosing complex respiratory presentations in pediatric patients with recurrent respiratory infections. The online version contains supplementary material available at 10.1186/s12887-025-06487-7.

Partial anomalous left pulmonary artery sling is an exceptionally rare congenital anomaly, and its coexistence with ventricular septal defect and right lung agenesis has not been reported. We describe a neonate presenting with right lung agenesis, a large ventricular septal defect, partial anomalous left pulmonary artery sling, and congenital tracheal stenosis. Following surgical repair of the ventricular septal defect at 73 days of age, the patient showed marked improvement in respiratory status and was discharged home without respiratory support.

Congenital lung malformations (CLMs) in pediatric patients encompass various structural abnormalities arising during fetal development, which can range from benign to life-threatening. The most common types include congenital pulmonary airway malformation (CPAM) and bronchopulmonary sequestration (BPS). This study aimed to retrospectively analyze patients treated surgically for CLMs, focusing on indications for surgery, surgical techniques, and outcomes. Data were collected from the medical records of patients who underwent thoracoscopy (n = 140) or thoracotomy (n = 52) between 2000 and 2024. Among these, 50 patients were diagnosed with CLMs, who were taken for further analysis. Study group inclusion criteria were performing a CT/X-ray imaging examination indicating the presence of a defect, surgery, and available pathology results. Exclusion criteria were incomplete data or lack of surgical procedure. Final study group included 37 patients who met inclusion criteria for further analysis. Detailed analysis encompassed demographics, clinical presentation, diagnostic methods, treatment, and follow-up. The cohort included patients diagnosed with CPAM type I (n = 12), CPAM type II (n = 7), pulmonary sequestration (n = 10), and other congenital malformations such as bronchogenic cyst (n = 2), congenital cystic pulmonary disease (n = 2), CPAM type IV-pleuropulmonary blastoma type I (PPB) (n = 1), juvenile emphysema (n = 2), and mediastinal cyst (n = 1). The average age at diagnosis was 37.61 months. The cohort consisted of 17 females and 20 males. The right lung was involved in 41.18% of cases, and the left lung in 58.82%. Symptoms at presentation included pneumonia (n = 9), respiratory failure (n = 8), emphysema (n = 3), and pneumothorax (n = 2). Fifteen patients were asymptomatic, and the diagnosis was incidental. Seven patients had other congenital diseases, such as heart defects. None of the patients other than the child with PPB were offered genetic diagnostics, albeit for DICER1 or KRAS mutations. The study underscores the heterogeneity in age and clinical presentation at the time of CLM diagnosis, highlighting the importance of an individualized and tailored approach to management.

Heterotaxy syndrome is a congenital condition characterized by abnormal left-right axis patterning of thoracoabdominal organs, frequently accompanied by complex congenital heart disease and extracardiac anomalies. The condition demonstrates considerable phenotypic variability, posing diagnostic and management challenges. We report three pediatric cases of heterotaxy syndrome classified by atrial isomerism: two with left atrial isomerism (LAI) and one with right atrial isomerism (RAI). The first case involved a 22-month-old male with LAI and polysplenia who presented with a transitional atrioventricular septal defect (AVSD), total anomalous pulmonary venous connection (TAPVC), Mobitz type II heart block, and a persistent gastrocutaneous fistula. He underwent staged surgical repair including TAPVC and AVSD correction, pulmonary valve commissurotomy, and pacemaker placement, and remained clinically stable. The second case involved a female neonate with RAI and asplenia, who presented at three weeks of age with heart failure and failure to thrive. She had complex cyanotic heart disease including double outlet right ventricle, unbalanced AVSD, TAPVC, and supraventricular tachycardia, along with extracardiac anomalies such as intestinal malrotation, gastrostomy tube dependence, and a lipomyelomeningocele. She was stabilized on medical therapy (furosemide, amlodipine, propranolol, and amoxicillin prophylaxis) and discharged home, later requiring readmission at seven months for parainfluenza infection but recovering well. At the latest follow-up, she remained clinically stable on medical management with plans for future biventricular repair. The third case involved a neonate with LAI and polysplenia who presented at birth with profound respiratory distress due to complete agenesis of the left lung, including absence of the left bronchus, pulmonary artery, and pulmonary veins, along with right pulmonary hypoplasia. Additional anomalies included a bifid right thumb. He received supportive care and was discharged on home oxygen. Genetic testing was non-diagnostic in all three patients despite extensive phenotypic abnormalities. Although the cases share hallmark features such as AVSD and abnormal pulmonary venous return, each demonstrates a distinct anatomic and clinical profile. This case series underscores the heterogeneity of heterotaxy syndrome and highlights the importance of comprehensive anatomic evaluation and multidisciplinary management.

In patients with unilateral pulmonary agenesis, airway compression often occurs due to mediastinal and cardiovascular deviations and remains a therapeutic challenge. We present the case with multilevel tracheobronchomalacia associated with double-outlet right ventricle (S, D, L) and right pulmonary agenesis who was treated using anterior pulmonary artery translocation with the Damus-Kaye-Stansel and Rastelli procedure.