Search Results (44)

Background: Intrapericardial extralobar pulmonary sequestration (ELPS) is an exceptionally rare congenital malformation. The location may mimic neoplastic lesions and poses diagnostic and surgical challenges. We present a new case and a systematic review of the literature. Case Presentation: A 3-month-old male infant was referred for evaluation of a congenital intrathoracic mass suspected to be an extralobar sequestration. However, intrapericardial location was not recognized. MRI and CT demonstrated a circumscribed lesion with arterial supply from the right pulmonary artery. Thoracoscopic exploration was attempted but converted to sternotomy. The mass was excised en bloc. Histopathological analysis confirmed extralobar pulmonary sequestration with cystic components, consistent with a hybrid lesion. Postoperative recovery was uneventful. Methods: A systematic literature review was conducted according to PRISMA guidelines across PubMed, Scopus and Embase databases, including only histologically confirmed intrapericardial ELPS. Results: Ten cases were identified. Including the present case, eleven cases have been reported. Prenatal detection occurred in 54% of cases. Fetal demise occurred in two cases due to cardiac tamponade. Aberrant arterial supply originated from the pulmonary arteries in 54% of patients and venous drainage into the right atrium or superior vena cava in 45%. Surgery via sternotomy was performed in all cases with excellent outcomes. Conclusions: Intrapericardial ELPS is an exceptionally rare but surgically curable entity. Early recognition and complete resection are essential to prevent life-threatening complications. This systematic review highlights a consistent vascular pattern supporting its classification as a unique embryologic variant within the CPAM–sequestration spectrum. Full article

Background: Down syndrome (DS) is commonly associated with complex respiratory phenotypes due to anatomical, immunological, and vascular factors. Pulmonary sequestration (PS) is a rare congenital malformation of non-functioning lung tissue with anomalous systemic arterial supply, occasionally reported in syndromic individuals. Case presentation: We report the case of a female infant with DS who developed acute respiratory distress secondary to respiratory syncytial virus infection. Chest imaging revealed an intralobar pulmonary pseudosequestration in the right lower lobe, supplied by the celiac trunk and draining into the pulmonary veins, with a communication to the bronchial tree. The patient required pediatric intensive care support and nutritional rehabilitation. Surgical resection was deferred until adequate weight optimization could be achieved. Discussion: This is, to our knowledge, the first description of intralobar pulmonary pseudosequestration in a patient with DS. The association suggests possible overlapping developmental mechanisms involving abnormal angiogenesis and emphasizes the importance of considering congenital pulmonary malformations in DS patients presenting with recurrent or severe respiratory symptoms. Conclusions: Early recognition and tailored management may improve clinical outcomes in this vulnerable population. Full article

Background: Prenatal detection of congenital lung lesions has increased with improved imaging. These abnormalities are safely treated with thoracoscopic lobectomy. We implemented an enhanced recovery after surgery (ERAS) protocol to standardize care and aim to evaluate its safety and efficacy compared to a non-ERAS cohort. Methods: A single-center retrospective chart review was conducted for twenty patients (n = 10 ERAS, n = 10 non-ERAS) undergoing thoracoscopic lobectomy from 2014–2024. Results: ERAS patients were generally younger at the time of surgery (ERAS: 4.25 ± 2.76 months vs. non-ERAS: 6.45 ± 6.78 months, p = 0.17). Postoperative length of stay was shorter in ERAS (1.77 ± 0.60 days) vs. non-ERAS patients (5.25 ± 3.79 days, p = 0.03) as well as chest tube duration (ERAS: 1.44 ± 0.73 days vs. non-ERAS 3.64 ± 2.38 days, p = 0.01). ERAS patients received lower amounts of opioid analgesics compared to non-ERAS (p = 0.0046). Use of the ERAS protocol also decreased cost for the healthcare system compared to non-ERAS patients (p = 0.0037). ERAS patients had no reintubations or prolonged air leaks (defined as >48 h), compared to four reintubations (p = 0.04) and three prolonged air leaks (p = 0.07) in the non-ERAS group. Crucially, there were no complications in the ERAS group, whereas five non-ERAS patients experienced Clavien–Dindo level III (one IIIa, two IIIb, two IVa) complications (p = 0.02). Conclusions: Our preliminary findings demonstrate the successful integration of a novel ERAS protocol in pediatric thoracoscopic lobectomies and its efficacy in reducing standard post-operative recovery times without an increased rate of complications. Earlier discharge in the ERAS group constitutes less healthcare burden with improved resource utilization and less family, work, and social disruption. Full article

Background: Pediatric thoracic magnetic resonance imaging (MRI) has evolved into a valuable diagnostic modality that offers high-resolution morphological and functional assessment. While conventional radiography and computed tomography (CT) remain standard, their radiation exposure poses significant risks in children requiring repeated imaging. Technological innovations have addressed prior MRI limitations such as low lung proton density and motion artifacts, expanding its role in pediatric thoracic imaging. Methods: A review of the recent literature was performed, focusing on technical advancements, key MRI sequences and clinical applications in pediatric thoracic imaging. Emphasis was placed on ultrashort echo time (UTE), phase-resolved functional lung (PREFUL) MRI, hyperpolarized xenon-129 MRI, radial imaging, compressed sensing, parallel imaging and respiratory gating techniques. Results: Modern MRI sequences provide both detailed anatomic visualization and quantitative functional assessment of the pediatric thorax. UTE and PREFUL enable evaluation of lung parenchyma, ventilation, and perfusion, while hyperpolarized gas imaging offers high-resolution functional mapping. Radial, compressed sensing and parallel imaging reduce motion artifacts and acquisition times, enhancing feasibility in uncooperative children. Clinical indications include assessment of congenital malformations, chronic lung disease like cystic fibrosis, infectious and inflammatory disorders, tumors and selected traumatic injuries. Conclusions: Recent technical advances have established pediatric thoracic MRI as a versatile, patient-friendly alternative, as well as a complementary method to CT in selected clinical scenarios. Ongoing developments in acquisition speed, motion compensation and functional imaging are expected to further improve diagnostic accuracy and clinical utility, supporting broader adoption in routine pediatric thoracic evaluation. Full article

Background: Lung resections in children are rare but critical for congenital lung malformations (CLMs) and acquired pathologies; few studies have analyzed the full spectrum of indications. This study evaluated indications, complications, outcomes, and temporal trends in a tertiary pediatric center. Methods: We retrospectively analyzed patients who underwent lung resection (2012–2024), focusing on indications, approaches, complications, and outcomes. Comparisons between pathologies (CLMs vs. acquired pathologies), approaches (thoracoscopy vs. thoracotomy), an temporal trends were evaluated. Results: Among 160 patients (mean age: 7.8 years), acquired lesions (68.6%) were more common than CLMs (31.4%), predominating in children under 8 years. Compared with thoracotomy, thoracoscopy (72.8% of cases, conversion rate: 22.8%) was correlated with shorter operative times (p < 0.001) and hospital stays (p = 0.001). The complication rate was 19.5%, with 71.9% of patients achieving disease-free, asymptomatic status at follow-up. Risk factors for conversion from thoracoscopy to open surgery included intraoperative adhesions (p = 0.003), underlying pathology (p = 0.013), and age < 8 years (p = 0.017). Compared with acquired lesions, CLMs were associated with fewer complications (14.3% vs. 23.1%, p = 0.041) and more favorable outcomes (89.2% vs. 64.7%; p < 0.05). Over time, the use of thoracoscopy increased (p = 0.012), with reduced operative time (p = 0.005); complication and outcome rates remained stable. Conclusions: Pediatric lung resections address diverse pathologies; outcomes are linked to the pathology, and CLMs are associated with lower complication rates in our cohort. Thoracoscopy has progressively become the preferred approach in the last decade, offering advantages particularly in postoperative recovery, though its success depends on careful, pathology-driven patient selection. Full article

Background and Objectives: Pulmonary sequestration (PS) is a rare congenital lung malformation. In adults, intralobar disease with recurrent infection or hemoptysis predominates. Cross-sectional imaging (CTA/MRA) is central to mapping the aberrant systemic supply; catheter angiography is used when noninvasive imaging is inconclusive or when an endovascular procedure is planned. We aimed to synthesize adult PS cases treated with endovascular or hybrid approaches and to summarize case selection, techniques, and outcomes. Methods: We conducted a PRISMA-2020-informed systematic review. We searched PubMed and Scopus from 1 January 2000 to 31 May 2025. Two reviewers extracted data independently; due to heterogeneity, we performed a narrative synthesis and a JBI-adapted qualitative risk-of-bias appraisal. Eligible studies enrolled adults (≥18 years) with imaging-confirmed PS treated with embolization, stent-graft exclusion, or hybrid therapy; prespecified outcomes included technical and clinical success, complications, recurrence, and re-intervention. The review was not registered. Results: Of 93 records screened, 41 publications reporting 48 adults were included. Twenty-five patients were managed endovascularly and 23 with hybrid therapy. Intralobar sequestration predominated (36/48); feeding arteries most often arose from the descending thoracic aorta (28/48). Complications were reported in 10 cases, mostly minor; three embolization cases required re-intervention. Conclusions: Endovascular therapy is useful for selected anatomies and urgent bleeding control, while hybrid strategies may benefit large, complex, or aneurysmal feeding arteries. The evidence base is limited to small case reports/series with heterogeneous outcome definitions and follow-up, precluding quantitative synthesis. Standardized outcome definitions, structured follow-up, and prospective registries are needed. Full article

Background: Unilateral lung agenesis (ULA) is a rare congenital anomaly characterized by the complete absence of one lung, often accompanied by cardiovascular, skeletal, or gastrointestinal malformations. Despite its clinical significance, evidence of prevalence, anatomical variants, and outcomes remain fragmented. This systematic review aimed to synthesize existing data on ULA’s prevalence, anatomical classifications, diagnostic approaches, and clinical implications. Methods: Following PRISMA 2020 guidelines, five databases (MEDLINE, Web of Science, CINAHL, Scopus, and EMBASE) were searched from inception to January 2024. Inclusion criteria encompassed case reports, case series, and observational studies on ULA in humans. Risk of bias was assessed using the Joanna Briggs Institute (JBI) checklist. Narrative synthesis was performed due to methodological heterogeneity. Results: Thirty-two studies (137 participants) were included. Right-sided ULA predominated (58%), with poorer prognoses due to mediastinal distortion. Cardiovascular anomalies (40%) were the most common comorbidity. Diagnostic modalities included chest radiography (85%), CT (70%), and bronchoscopy (25%). Schneider-Boyden scale was used to classify the included studies. Risk of bias assessment revealed 65% of studies as low risk, 28% as moderate, and 7% as high risk. Conclusions: ULA necessitates multidisciplinary management, particularly in cases with associated anomalies. Left-sided ULA correlates with better outcomes, emphasizing the role of early imaging. Limitations include reliance on case reports and inconsistent reporting of anatomical variants. Future research should adopt standardized classifications and longitudinal designs to improve evidence quality. Open science framework (OSF): 10.17605/OSF.IO/XVQSP. Full article

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the FOXF1 gene or its upstream enhancer region on chromosome 16q24.1. This review analyzes reported prenatal cases with 16q24.1 deletion involving FOXF1, aiming to identify recurrent sonographic features and elucidate the underlying genomic and epigenetic mechanisms. We reviewed prenatal cases reported in the literature involving deletions of the 16q24.1 region, including the FOXF1 gene. Here, we expand the case series by reporting a fetus with increased nuchal translucency measuring 8 mm and a de novo 16q24.1 deletion. We identified nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. Prenatal diagnosis of ACDMPV based solely on ultrasound findings is challenging. In most reported cases, the pregnancy was carried to term, with the diagnosis being confirmed by post-mortem histopathological examination. In the only case in which the pregnancy was terminated at 14 weeks’ gestation, histological examination of the fetal lungs, despite them being in the early stages of development, revealed misaligned pulmonary veins in close proximity to the pulmonary arteries and bronchioles. Evidence highlights the significance of non-coding regulatory regions in the regulation of FOXF1 expression. Differential methylation patterns, and possible contributions of parental imprinting, highlight the complexity of FOXF1 regulation. Early detection through array comparative genomic hybridization (array CGH) or next-generation sequencing to identify point mutations in the FOXF1 gene, combined with increased awareness of ultrasound markers suggestive of the condition, could improve the accuracy of prenatal diagnosis and genetic counseling. Further research into the epigenetic regulation of FOXF1 is crucial for refining recurrence risk estimates and improving genetic counseling practices. Full article

Pediatric congenital lung malformations (CLMs) comprise a spectrum of developmental anomalies of lung parenchyma, airways, and vasculature. CLMs are increasingly diagnosed prenatally but remain best characterized by postnatal cross-sectional imaging. During pregnancy, ultrasound (US) and fetal magnetic resonance imaging (MRI) are commonly used to monitor lung lesions. Management of CLMs, including imaging, in infants and young children depends on associated symptoms and institutional standards. Chest CT angiography (CTA) is usually the most appropriate initial postnatal imaging modality for assessing prenatally diagnosed or clinically suspected CLMs in asymptomatic infants and children. Magnetic resonance (MR) imaging/magnetic resonance angiography (MRA) may be considered as a complementary, problem-solving, imaging modality for evaluation of CLMs during fetal and neonatal periods. This article presents contemporary perspectives on the imaging approach to pediatric patients with suspected CLMs and reviews up-to-date radiologic findings and clinical characteristics of CLMs. Full article

Background: Bronchopulmonary sequestration (BPS) is a portion of dysplastic pulmonary tissue not communicating with the tracheobronchial tree. Its vascularization is provided by abnormal arteries originating from the systemic circulation. Previous papers report different venous drainage (VD) between intralobar (ILS) and extralobar sequestration (ELS), respectively, into the pulmonary or the systemic veins. The aim of our study is to investigate the VD as independent predictor of the type of PS. Methods: We retrospectively reviewed 41 pediatric patients who underwent surgery for BPS between 2016 and 2023 in two centers. Patients treated prenatally and without pre-operative CT were excluded. BPS were classified either intra or extra lobar. Pre-operative radiological BPS classification prediction was assessed based on intra-operative thoracoscopic findings. Lesion VD and sharp margins (SM) on pre-operative CT were assessed as predicting factors. Results: A total of 36 patients were included: 24 ILS and 12 ELS. All patients underwent thoracoscopic resection without major complications. VD is significantly different between ILS and ELS: 96% of ILS drain into the pulmonary system while 83% of ELS drain into a systemic vein (p < 0.00001). On pre-operative CT, the absence of SM predicts for an ILS in 100% of cases. SM has a PPV for ELS of 85.7%. The combination of SM and systemic VD has a PPV for ELS of 91.7%. Conclusions: In our series, the absence of SM alone is suggestive for an ILS in 100% of cases, while the combination of SM and systemic VD is more accurate in predicting ELS. This may help improving surgical planning and family consultation. Full article

Neonates with congenital conditions which require surgical management frequently experience respiratory distress. This review discusses the management of pulmonary complications and the respiratory support strategies for four conditions: oesophageal atresia-tracheoesophageal fistula (OA-TOF), congenital diaphragmatic hernia (CDH), congenital lung malformations (CLM), and anterior abdominal wall defects (AWD). Mechanical ventilation techniques which can reduce the risk of ventilator-induced lung injury (VILI) are discussed, as well as the use of non-invasive respiratory support modes. While advances in perioperative respiratory support have improved outcomes in infants with OA-TOF, managing respiratory distress in premature OA-TOF neonates remains a challenge. In CDH infants, a randomised trial has suggested that conventional ventilation may improve outcomes compared to high-frequency ventilation. Echocardiographic assessment is essential in the management of CDH infants with pulmonary hypertension. Lung-protective ventilation settings may lower the rate of postoperative complications in symptomatic CLM infants, but there remains debate regarding the choice of expectant versus surgical management in neonates with asymptomatic CLMs. Infants with AWDs can require ventilation due to pulmonary hypoplasia, but the effects of this on their long-term respiratory health are poorly understood. As surgical techniques continue to evolve and novel ventilation techniques become available, prospective multi-centre studies will be required to define the optimal respiratory support strategies for neonatal surgical conditions that affect lung function. Full article

Congenital cystic adenomatoid malformation (CCAM) is a rare fetal lung anomaly characterized by benign multicystic masses that can lead to severe complications, such as pulmonary hypoplasia, fetal hydrops, and neonatal death. This literature review examines current knowledge on antenatal therapies for CCAM, focusing on pharmacological, procedural, and surgical interventions. Betamethasone, the first-line pharmacological treatment, has shown efficacy in reducing lesion size and resolving hydrops, particularly in microcystic CCAM. Procedural options, such as thoracoamniotic shunting, are effective for macrocystic lesions but carry risks including preterm labor and thoracic deformities. Open fetal surgery remains a last-resort intervention for severe cases, while emerging techniques, like percutaneous laser ablation and sclerotherapy, offer promising minimally invasive alternatives. A proposed treatment algorithm emphasizes individualized care based on lesion type, gestational age, and the presence of complications. The authors searched the US National Library of Medicine Database, Google Scholar, and PubMed Central to gather information on antenatal therapies for CCAM. This review emphasizes that, despite significant advancements, considerable challenges persist, underscoring the need for prospective studies to refine therapeutic protocols and assess long-term outcomes. Full article

Oropouche virus (OROV) is an orthobunyavirus endemic in the Brazilian Amazon that has caused numerous outbreaks of febrile disease since its discovery in 1955. During 2024, Oropouche fever spread from the endemic regions of Brazil into non-endemic areas and other Latin American and Caribbean countries, resulting in 13,014 confirmed infections. Similarly to other orthobunyaviruses, OROV can undergo genetic reassortment events with itself as well as other viruses. This occurred during this current outbreak, resulting in novel strains with increased pathogenicity and levels of transmission. For the first time, pregnant women with Oropouche fever have sustained poor perinatal outcomes, including miscarriage, fetal demise, stillbirths and malformation syndromes including microcephaly. In July 2024, PAHO issued an Epidemiological Alert warning of the association of OROV with vertical transmission. OROV has now been identified in the fetal blood, cerebrospinal fluid, placenta and umbilical cords, and fetal somatic organs including the liver, kidneys, brain, spleen, heart, and lungs using nucleic acid and antigen testing. Perinatal autopsy pathology has confirmed central nervous system infection from OROV in infants with congenital infection including microcephaly, ventriculomegaly, agenesis of corpus callosum, and neuronal necrosis. The latest data from Brazil show 3 confirmed cases of OROV vertical transmission; 2 cases of fetal death; 1 case of congenital malformation; and ongoing investigations into the role of OROV in 15 cases of fetal death, 3 cases of congenital malformations and 5 spontaneous miscarriages. This Commentary discusses the mechanisms and significance of development of novel reassortant strains of OROV during the current outbreak and their recent recognition as causing vertical infection and adverse perinatal outcomes among pregnant women with Oropouche fever. Full article

Introduction: In this single-center retrospective analysis, we present case data and insights gathered over the past eight years. Additionally, we computed postnatal, pre-therapy lesion-to-lung ratios of Congenital Pulmonary Airway Malformations (CPAMs) to retrospectively assess potential outcome prediction using lesion-to-lung ratios. Methods: Data were collected between 2015 and 2022. Information such as chosen therapy, surgical duration, postoperative hospital stay, and follow-up was obtained from electronic case records. Pre-therapy pulmonary lesion volumes [mm³], lesion-to-ipsilateral-lung ratio, and lesion-to-both-lungs ratio of CPAMs were retrospectively calculated from computed tomography images using specialized software. Results: Of the 40 identified cases, 27 had CPAM, 7 had pulmonary sequestration, 4 had bronchogenic cysts, and 2 had congenital lobar emphysema. Histological examinations of resected specimens revealed no malignancy. For CPAMs, the median surgery age was 7 months (interquartile range (IQR): 0.45–11), averaging 9.54 ± 15.01 months. The CPAM surgery lasted on average 126 ± 53 min (median 124 min (IQR 108–172)). The mean length of hospital stay was 6 ± 1.41 days for thoracoscopic surgery and 17 ± 18.23 days for open surgery. No clear link was found between the lesion ratio and management choice or surgical length. Notably, larger lesions tended to result in longer postoperative stays. CPAMs with a lesion-to-ipsilateral-lung ratio of ≤0.11 were asymptomatic. Discussion and Conclusions: If patients present no symptoms, mild symptoms, or smaller CPAM lesions, “wait and watch” and a CT scan of the thorax up to approximately six months of age remain a reasonable approach. The true risk of malignancy remains ambiguous, especially since there was no evidence of malignancy in our biopsies. On the other hand, prophylactic surgery before symptoms arose led to earlier discharge and overall low intraoperative complications compared to symptomatic counterparts. Ultimately, the adopted therapy pathway remains a parental choice. For CPAMs, an increased lesion-to-lung ratio correlated with extended hospital stay and symptomatic presentation. However, there was no cut-off value for conservative or surgical treatment. Full article

Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, regress and to become barely detectable during the third trimester. Little is known about cases of affected neonates born prematurely: only six cases are described in the literature, recording different conduct and outcomes. Herein, we report the case of a very low birth weight infant born at GW 28 without antenatal findings and presenting at birth with severe respiratory distress, requiring ventilation. Chest X-rays and a CT scan showed the presence of a solid mass in the left lung. An initial conservative approach was adopted as the baby gained respiratory stability within the first days of life. Routine ultrasound (US) showed a progressive reduction of the lesion, mimicking the process of involution that CPAM can exhibit during late gestation. The rarity of the condition does not allow the formulation of any suggestions regarding one type of management over the other. An initial conservative approach seems to be appropriate with regards to the outcome and possible intra- and post-operative complications. Full article