Congenital Pulmonary Airway Malformation (CPAM) is a rare congenital anomaly of the lung that is infrequently diagnosed in the neonatal period, especially in preterm infants without prenatal detection. Methicillin-Resistant Staphylococcus aureus (MRSA) colonization and infection in preterm neonates can further complicate diagnosis and clinical progression. To describe a rare presentation of CPAM diagnosed in a preterm neonate following late-onset MRSA sepsis, emphasizing the diagnostic challenge and the interplay between infection and congenital malformation. We present a case report of a preterm female infant (28+3 weeks gestational age, birth weight 1100g), the second of twins, with an initially unremarkable postnatal chest X-ray. She developed clinical deterioration on day 17 of life, and investigations revealed MRSA colo-nization and positive tracheal aspirate cultures. Progressive radiological changes led to further imaging and diagnosis of CPAM. A systematic literature review was also conducted to identify similar cases of CPAM in preterm neonates. Initial imaging showed no signs of pulmonary malformation. However, after the onset of MRSA-related late-onset sepsis (LOS), follow-up imaging revealed a multiloculated cystic lesion in the right upper lobe. A CT scan confirmed a differential diagnosis of CPAM type II versus necrotizing pneumonia. Surgical lobectomy was performed on day 40 of life, and histopathology confirmed CPAM type I with focal mucinous metaplasia. Postoperative recovery was successful, and the infant was discharged home in stable condition on day 90 of life. This case highlights the possibility that MRSA sepsis may serve as a trigger or unmasking event for underlying CPAM in preterm neonates. The absence of antenatal diagnosis and delayed radiological changes in this case emphasize the need for a high index of suspicion in the setting of localized pulmonary pathology during systemic infection. In reviewing the literature, this represents one of the few documented cases of CPAM in a preterm neonate without prenatal suspicion. Prompt recognition and multidisciplinary management are essential for optimizing outcomes in such complex cases.

There are several different types of congenital lung malformation (CLM). Malignant transformation to adenocarcinoma is almost exclusively associated with type 1 congenital pulmonary airway malformation (CPAM). Histological examination is the only reliable method to define malformation subtype. To determine if the largest cyst diameter on CT imaging is an accurate diagnostic test for the presence or absence of type 1 CPAM on histological analysis. All cases of antenatally identified CLM that underwent surgical resection between 2004 and 2023 were identified. The index test (diameter of largest cyst on CT imaging) was determined for each case. The reference standard test was the diagnosis of type 1 CPAM on the histopathology report. Measures of accuracy of the index test in detecting the presence or absence of type 1 CPAM were calculated. For asymptomatic cases (n = 117) the prevalence of type 1 CPAM was 23.9%. Largest cyst diameter discriminated well between those with and without type 1 CPAM, with an area under the receiver operating characteristic curve of 0.852 (95% CI 0.77-0.91, p < 0.001). At a threshold diameter of ≥ 5 mm the index test performed accurately: Sensitivity 85.7% (95% CI 67.3-96.0), specificity 76.5% (95% CI 65.8-85.2), positive predictive value 55.8% (95% CI 45.3-65.8) and negative predictive value 93.9% (95% CI 86.1-97.5). In this cohort type 1 CPAM has a low prevalence and could be accurately distinguished through radiological features.

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.

Congenital pulmonary airway malformations (CPAMs), according to the Stocker classification, comprise five types, two of which are non-cystic in nature (types 0 and 3) whereas the others present as cystic lung lesions (types 1, 2 and 4). While there is consensus that symptomatic lesions should be managed surgically, the asymptomatic cases are more problematic in terms of therapeutic intervention. The dilemma is further complicated by CPAM types 1 and 4 and their preneoplastic potential. In the case of CPAM type 1, there are reports of lipidic adenocarcinoma arising from the mucinous component. Type 4 has been equated to type I or cystic pleuropulmonary blastoma (PPB), a proposition that has been challenged in the past. Pleuropulmonary blastoma is associated with a heterozygous germline or somatic variants in DICER1. It was recognized that the earliest stage of the sarcomatous progression of PPB was a multicystic lesion in the periphery of the lung whose architectural features were identical to CPAM type 4. This narrative review addresses key aspects of the pathogenetic and diagnostic issues of type I PPB/CPAM type 4, as well as the association of DICER1 and PPB, offering valuable insights for pediatricians and clinicians caring for young adults who are impacted by the presence of a germline DICER1 variant.

Procedures involving lung surgery in the pediatric population are relatively uncommon and tend to be centralized in a limited number of institutions. Anesthesia literature is also sparse. To have a clear overview of frequency, underlying pathologies, ICU and hospital stay, anesthetic techniques, one lung ventilation, and perioperative analgesia. We conducted a retrospective review in a single-center tertiary hospital, from January 2014 to 2023. We included children aged 0-16 years who underwent major lung surgery and received anesthesia managed by the pediatric anesthesia team. Patients with congenital diaphragmatic hernia, esophageal atresia, or those undergoing surgery for pectus excavatum were excluded. Our main outcome measures include the type of underlying pathology and surgical procedure, ICU and hospital stay, methods of one-lung ventilation, source of perioperative analgesia, and the incidence of (postoperative) complications. We included 73 patients, 55% male and 45% female. The median age was 2.8 years and the median weight was 12.9 kg. Congenital pulmonary airway malformation was diagnosed in 43%, and 45% underwent a (partial) lobectomy. The proportion of video-assisted thoracoscopic surgery was comparable to that of open thoracotomy. One-lung ventilation (OLV) was used in 81%, primarily facilitated by a bronchial blocker. Epidural catheterization with ropivacaine for perioperative pain management was used in 71%. The proportion of patients receiving intravenous morphine on postoperative Days 1, 2, 3, 4, and 5 was 40%, 34%, 19%, 15%, and 11%, respectively. Insufficient pain control was reported in 14%. 70% were admitted to the ICU for one night. The average length of hospital stay was 8 days. We addressed the anesthetic care of pediatric lung surgery procedures. OLV was required in the majority of the population and a bronchial blocker was the preferred method. Epidural analgesia was the preferred choice to tackle perioperative pain.