Search Results (37)

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

Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connections between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. These congenital malformations are typically associated with Hereditary Hemorrhagic Telangiectasia (HHT), a rare disease that affects 1 in 5000/8000 individuals. HHT disease is frequently caused by mutations in genes involved in the TGF-β pathway. However, approximately 15% of patients do not have a genetic diagnosis and, among the genetically diagnosed, more than 33% do not meet the Curaçao criteria. This makes clinical diagnosis even more challenging in the pediatric age group. Here, we introduce an 8-year-old patient bearing a severe phenotype of multiple diffuse PAVMs caused by an unknown mutation which ended in lung transplantation. Phenotypically, the case under study follows a molecular pattern which is HHT-like. Therefore, molecular- biological and cellular-functional analyses have been performed in primary endothelial cells (ECs) isolated from the explanted lung. The findings revealed a loss of functionality in lung endothelial tissue and a stimulation of endothelial-to-mesenchymal transition. Understanding the molecular basis of this transition could potentially offer new therapeutic strategies to delay lung transplantation in severe cases. Full article

The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring across various stages of prenatal life. Their natural history can be variable, presenting in a wide range of severity levels and encompassing asymptomatic individuals who remain so until adulthood, as well as those who experience respiratory distress in the neonatal period. Through the PubMed database, we performed an extensive review of the literature in the fields of congenital lung abnormalities, including their diagnostic approach and findings. From our RIS-PACS database, we have selected cases with a final diagnosis of congenital lung malformation. Different diagnostic approaches have been selected, including clinical cases studied using plain radiograph, CT scan, prenatal ultrasound, and MR images. The most encountered anomalies can be classified into three categories: bronchopulmonary anomalies (congenital pulmonary airway malformations (CPAMs), congenital lobar hyperinflation, bronchial atresia, and bronchogenic cysts), vascular anomalies (arteriovenous malformation), and combined lung and vascular anomalies (scimitar syndrome and bronchopulmonary sequestration). CLM causes significant morbidity and mortality; therefore, the recognition of these abnormalities is necessary for optimal prenatal counseling and early peri- and postnatal management. This pictorial review aims to report relevant imaging findings in order to offer some clues for differential diagnosis both for radiologists and pediatric consultants. Full article

Bubble contrast echocardiography is commonly used to diagnose pulmonary arteriovenous malformations (PAVMs) in single ventricle congenital heart disease (CHD), yet previous studies inconsistently report a correlation between bubble echoes and oxygenation. In this study, we sought to re-evaluate the correlation between bubble echoes and oxygenation by assessing total bilateral shunting and unilateral shunting. We conducted a single-center, retrospective study of patients with single ventricle CHD and previous Glenn palliation who underwent a cardiac catheterization and bubble echocardiogram during the same procedure from 2011 to 2020. Spearman’s rank correlation was performed to examine the relationship between total bilateral shunting and measures of systemic oxygenation, as well as unilateral shunting and ipsilateral pulmonary vein oxygenation. For all patients (n = 72), total bilateral shunting moderately correlated with peripheral oxygen saturation (SpO₂) (r_s = −0.44, p < 0.0001). For patients with Glenn/Kawashima circulation (n = 49), total bilateral shunting was moderately correlated (SpO₂: r_s = −0.38, p < 0.01). In contrast, unilateral shunting did not correlate with ipsilateral pulmonary vein oxygenation for any vein measured (p = 0.16–p > 0.99). In conclusion, the total burden of bilateral bubble shunting correlated with systemic oxygenation and may better reflect the total PAVM burden from all lung segments. Unilateral correlation may be adversely influenced by non-standardized approaches to pulmonary vein sampling. Full article

Background: Pulmonary sequestration (PS), generally diagnosed using computed tomography pulmonary angiography (CTPA), is a rare congenital developmental malformation of the lung that is characterized by nonfunctional lung tissue, independent of the normal lung tissue. This paper summarizes the imaging features of the supplying arteries and draining vessels in patients with PS with an aim to assist in timely clinical diagnosis and operation guidance. Materials and Methods: A total of 55 patients with PS diagnosed using CTPA from multiple clinical centers were retrospectively analyzed. Data included demographic characteristics, imaging features, disease location, isolation type, and the features of supplying and draining vessels, as shown on CTPA images. Results: Of the 55 patients reviewed, 3 (5.45%) were children, 3 (5.45%) were adolescents, and 49 (89.09%) were adults; the mean age was 44 years. Fifty-four (98.18%) patients had intralobar sequestration and one (1.82%) had extralobar sequestration. PS was noted 3.5 times more frequently in the left lower lobe than in the right lower lobe. For the supplying arteries, 47 (85.45%) were derived from the descending thoracic aorta, 1 (1.82%) from the abdominal aorta, 7 (12.73%) from the celiac axis, and 1 (1.82%) from the bronchial artery. The draining vessels were the pulmonary veins in 49 patients (89.09%), the umbilical vein in 1 (1.82%), the venae intercostal in 1 (1.82%), the pulmonary arteries in 11 (20.00%), and the vessels were not shown on the images in 2 patients (3.64%). Conclusion: Clinical presentations of PS are non-specific and can be easily missed or misdiagnosed. However, CTPA can help to improve the diagnostic accuracy and identify the supplying arteries and draining vessels, which significantly contribute to surgical planning. Full article

Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other lung neoplasms. A review of the literature, together with the first European case, are herein reported. A systematic and manual search of the literature using the keyword “fetal lung interstitial tumor” was conducted on PUBMED, Scopus, and SCIE (Web of Science). Following the PRISMA guidelines, 12 articles were retrieved which describe a total of 21 cases of FLIT, and a new European case is presented. A prenatal diagnosis was reported in only 3 out of 22 (13%) cases. The mean age at surgery was 31 days of life (1–150); a lobectomy was performed in most of the cases. No complications or recurrence of disease were reported at a mean follow-up of 49 months. FLIT is rarely diagnosed during pregnancy, may present at birth with different levels of respiratory distress, and requires prompt surgical resection. Histology and immunohistochemistry allow for the differentiation of FLIT from cPAM and other lung tumors with poor prognosis, such as pleuropulmonary blastoma, congenital peri-bronchial myofibroblastic tumor, inflammatory myofibroblastic tumor, and congenital or infantile fibrosarcoma. Full article

Tachypnoea in the newborn is common. It may arise from the many causes of the respiratory distress syndrome such as hyaline membrane disease, transient tachypnoea of the newborn, meconium aspiration etc. Congenital heart disease rarely presents with early tachypnoea on day one or two, in contrast to the early presentation of cyanosis, unless there is “pump” (ventricular) failure such as may occur in a cardiomyopathy/myocarditis, or as a result of severe obstruction to either ventricle. Space-occupying lesions within the chest, for example from a diaphragmatic hernia or a congenital cystic adenomatoid malformation, may present with early tachypnoea, as can a metabolic cause resulting in acidosis. The aim of this paper, however, is to focus on infants where the tachypnoea persists or develops beyond the newborn period, at times with minimal signs but occasionally with serious underlying pathology. They include causes that may have originated in the newborn but then persist; for example, arising from pulmonary hypoplasia or polycythemia. Many congenital cardiac abnormalities, particularly those causing left sided obstructive lesions, or those due to an increasing left to right shunt from large communications between the systemic and pulmonary circulations, need be considered. Respiratory causes, for example arising from aspiration, primary ciliary dyskinesia, cystic fibrosis, or interstitial lung disease, may lead to ongoing tachypnoea. Infective causes such as bronchiolitis or infantile wheeze generally are readily recognisable. Finally, there are a few infants who present with persistent tachypnoea over the first few weeks/months of their life who remain well and have normal investigations with the tachypnoea gradually resolving. How should one approach infants with persistent tachypnoea? Full article

Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a high-grade sarcoma type II and III. While complete resection is the cornerstone treatment for type I PPB, aggressive chemotherapy with a less favorable prognosis is associated with type II and III. DICER1 germline mutation is positive in 70% of children with PPB. Diagnosis is challenging, as it resembles congenital pulmonary airway malformation (CPAM) in imaging. Although PPB is an extremely rare malignancy, over the past five years we have encountered several children diagnosed with PPB in our medical center. Herein, we present some of these children and discuss diagnostic, ethical, and therapeutic challenges. Full article