Search Results (16)

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

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

Congenital high airway obstructive syndrome (CHAOS) is a rare congenital anomaly, frequently caused by laryngeal or tracheal atresia, tracheal stenosis, and obstructing laryngeal cysts. This is a congenital malformation, often fatal, with an unknown prevalence. Laryngeal atresia is the most frequent cause. We report a case of an intrauterine diagnosis of CHAOS and ascites in a 17-week fetus delivered at 38 weeks of gestation without other associated malformations. A fetoscopic procedure was performed at 22 weeks of gestation. An attempt was made to perforate the affected area to ensure pulmonary fluid circulation and the ascites’ resolution. After birth, a tracheostomy was performed. The patient was mechanically ventilated until 11 months of age, when she was discharged with no cerebral or other complications of immediate postnatal anoxia or episodes of respiratory arrest. A laryngotracheoplasty was performed at 2 years old, but decannulation was not possible due to certain complications. At 5 years old, a new surgical intervention was performed, which allowed decannulation 6 months later. 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

Congenital lung malformations (CLMs) involve anomalies of the lungs and respiratory tree such as congenital pulmonary airway malformation (CPAM), pulmonary sequestration (PS), bronchogenic cysts, congenital lobar emphysema, and bronchial atresia (BA). Although symptomatic lesions require surgical resection, the appropriateness of surgery for patients with asymptomatic malformations is a matter of ongoing debate. Limited data are available concerning the long-term follow-up of affected subjects. In this study, we sought to evaluate the long-term clinical and functional respiratory outcomes in children with CLMs who underwent surgical resection. We carried out a retrospective analysis of 77 children with CLMs who underwent pulmonary resection with at least one year of follow-up. The most common diagnoses were CPAM (50.65%), hybrid lesions (25.97%), lobar emphysema (11.69%), and PS (5.19%). The most common surgical approaches were lobectomy (61.3%), segmentectomy (10.7%), and pneumonectomy (5.3%). Acute post-surgery complications occurred in 31.2% of children. In addition, 73.7% experienced long-term complications, and we found no correlation between the presence of these complications and the sex of the patients, their age at time of surgery, the type of surgery undergone, the presence of symptoms prior to intervention, or acute complications after surgery. Pulmonary function tests revealed FEV1 Z-scores of <−2 SDs in 16 patients, and we found a significant correlation between pneumonectomy and the development of lung function deficit (p = 0.031). In conclusion, clinical and functional respiratory complications may occur in children with CLMs who undergo surgical resection. Long-term monitoring is needed to improve the management of asymptomatic patients. Full article

Congenital cystic adenomatoid malformation (CCAM) is a developmental lesion of the lungs and terminal respiratory structures, which is characterized by pseudocysts, lesions, and cystically dilated airways. CCAM is also known as congenital pulmonary airway malformation (CPAM). Various classification systems for CCAM have been described, and based on a recent classification, CCAMs are classified morphologically into five different types (Type 0, I, II, III, and IV) based on lesion sizes. The most common manifestation of CCAM in neonates and children is respiratory distress (RD). Spontaneous pneumothorax is a rare manifestation of CCAM. In this case report, we discuss a CCAM type-II case of a 38-day-old female infant with a radiological post-mortem diagnosis of a large left-side spontaneous pneumothorax. The gross examination of the lungs revealed multiple emphysematous air bubbles up to 0.5 cm in diameter, and the histological examination revealed focal pleural fibrosis, accompanied by thickened septa and atelectasis. In this scenario, the routine use of prenatal ultrasonography would be important to obtain a timely prenatal diagnosis. At the same time, improvements in surgical techniques, as well as greatly improved imaging techniques, have improved the outcome of these patients. Finally, it is important to remark on the importance of autopsy in the case of sudden infant death with a suspected CCAM. Full article

Background: Bronchogenic cysts (BCs) refer to congenital lesions that result from primitive or abnormal foregut budding, and can be pulmonary or mediastinal. Their occurrence can take place at any point on the tracheobronchial tree, but they are usually localized in the lung parenchyma and mediastinum, and may be symptomatic or asymptomatic. Bronchogenic cyst symptoms can vary, depending on the size and location of the cyst. Methods: A retrospective review of the charts of five patients with a histopathological diagnosis of bronchogenic cysts was performed between 2014 and 2020. The patients reported in this study were diagnosed and managed at Abha Maternity and Children Hospital, Abha, southwest Saudi Arabia. In addition, demographic information, as well as diagnostic and therapeutic information, was provided for each patient, both at discharge and after discharge. All patients had confirmed congenital bronchogenic cysts with different clinical phenotypes and radiological findings. Results: All patients had histopathologically confirmed bronchogenic cysts with different clinical and radiological presentations. Two patients had mediastinal-located cysts; one had a laryngeal cyst; and the last two patients had infected intrapulmonary bronchogenic cysts. All patients underwent complete excision and did not experience recurrence or other postoperative complications during the follow-up period. The latter two patients required lobectomies of the right middle and upper lobes. Conclusions: Although bronchogenic cysts are considered a rare congenital pulmonary malformation, they should be considered in the differential diagnosis of pediatric patients with unusual airway and parenchymal lung manifestations, particularly, persistent stridor, feeding difficulty, and complicated pneumonia. Surgical excision of the cyst is the gold-standard therapy for symptomatic bronchogenic cysts and is highly recommended for asymptomatic ones. Long-term follow-up studies will be required to explore any long-term complications of BCs, particularly regarding the malignancy transformation. Full article

The lung originates from the ventral foregut and develops into an intricate branched structure of airways, alveoli, vessels and support tissue. As the lung develops, cells become specified and differentiate into the various cell lineages. This process is controlled by specific transcription factors, such as the SRY-related HMG-box genes SOX2 and SOX21, that are activated or repressed through intrinsic and extrinsic signals. Disturbances in any of these processes during the development of the lung may lead to various pediatric lung disorders, such as Congenital Diaphragmatic Hernia (CDH), Congenital Pulmonary Airway Malformation (CPAM) and Broncho-Pulmonary Dysplasia (BPD). Changes in the composition of the airways and the alveoli may result in reduced respiratory function and eventually lead to chronic lung disorders. In this concise review, we describe different intrinsic and extrinsic cellular processes required for proper differentiation of the epithelium during development and regeneration, and the influence of the microenvironment on this process with special focus on SOX2 and SOX21. Full article

Consensus on the optimal management of asymptomatic congenital pulmonary airway malformation (CPAM) is lacking, and comparison between studies remains difficult due to a large variety in outcome measures. We aimed to define a core outcome set (COS) for pediatric patients with an asymptomatic CPAM. An online, three-round Delphi survey was conducted in two stakeholder groups of specialized caregivers (surgeons and non-surgeons) in various European centers. Proposed outcome parameters were scored according to level of importance, and the final COS was established through consensus. A total of 55 participants (33 surgeons, 22 non-surgeons) from 28 centers in 13 European countries completed the three rounds and rated 43 outcome parameters. The final COS comprises seven outcome parameters: respiratory insufficiency, surgical complications, mass effect/mediastinal shift (at three time-points) and multifocal disease (at two time-points). The seven outcome parameters included in the final COS reflect the diversity in priorities among this large group of European participants. However, we recommend the incorporation of these outcome parameters in the design of future studies, as they describe measurable and validated outcomes as well as the accepted age at measurement. Full article

Congenital pulmonary airway malformations (CPAM) are rare conditions generally diagnosed in childhood and possibly harboring malignant tumor growths. We describe a unique case of pleomorphic carcinoma in a longstanding type 1 CPAM diagnosed by wedge resection. The patient underwent completion left lower lobectomy and lymphadenectomy, but cancer recurred in nodal station #7 six months later. Clinicians should keep in mind that CPAM may hide radiologically undetectable malignancy in a relevant rate of cases, then requiring surgery in all patients. While MIA is the most common histology in type 1 CPAM, sarcomatoid change has herein been demonstrated. Full article

Lung organogenesis is a highly coordinated process governed by a network of conserved signaling pathways that ultimately control patterning, growth, and differentiation. This rigorously regulated developmental process culminates with the formation of a fully functional organ. Conversely, failure to correctly regulate this intricate series of events results in severe abnormalities that may compromise postnatal survival or affect/disrupt lung function through early life and adulthood. Conditions like congenital pulmonary airway malformation, bronchopulmonary sequestration, bronchogenic cysts, and congenital diaphragmatic hernia display unique forms of lung abnormalities. The etiology of these disorders is not yet completely understood; however, specific developmental pathways have already been reported as deregulated. In this sense, this review focuses on the molecular mechanisms that contribute to normal/abnormal lung growth and development and their impact on postnatal survival. Full article

The inflammatory response plays a central role in the complications of congenital pulmonary airway malformations (CPAM) and severe coronavirus disease 2019 (COVID-19). The aim of this study was to evaluate the transcriptional changes induced by SARS-CoV-2 exposure in pediatric MSCs derived from pediatric lung (MSCs-lung) and CPAM tissues (MSCs-CPAM) in order to elucidate potential pathways involved in SARS-CoV-2 infection in a condition of exacerbated inflammatory response. MSCs-lung and MSCs-CPAM do not express angiotensin-converting enzyme 2 (ACE2) and transmembrane serine protease 2 (TRMPSS2). SARS-CoV-2 appears to be unable to replicate in MSCs-CPAM and MSCs-lung. MSCs-lung and MSCs-CPAM maintained the expression of stemness markers MSCs-lung show an inflammatory response (IL6, IL1B, CXCL8, and CXCL10), and the activation of Notch3 non-canonical pathway; this route appears silent in MSCs-CPAM, and cytokine genes expression is reduced. Decreased value of p21 in MSCs-lung suggested no cell cycle block, and cells did not undergo apoptosis. MSCs-lung appears to increase genes associated with immunomodulatory function but could contribute to inflammation, while MSCs-CPAM keeps stable or reduce the immunomodulatory receptors expression, but they also reduce their cytokines expression. These data indicated that, independently from their perilesional or cystic origin, the MSCs populations already present in a patient affected with CPAM are not permissive for SARS-CoV-2 entry, and they will not spread the disease in case of infection. Moreover, these MSCs will not undergo apoptosis when they come in contact with SARS-CoV-2; on the contrary, they maintain their staminality profile. Full article

The main congenital pulmonary airways malformations in newborns and infants requiring surgery are cystic adenoid malformation, congenital lobar emphysema and bronchogenic cyst. The surgical treatment preferably via thoracoscopy is recommended within the first year of life to avoid the risk of pneumopathy. A monopulmonary ventilation is then required by the surgeon to operate the diseased lung. The anesthetic management of intraoperative mono-pulmonary ventilation in newborns and infants is always challenging for the anesthesiologist. The main objective of this study was to describe anesthetic protocol for thoracoscopy and variations of monitored parameters during a mono-pulmonary ventilation procedure in newborns and infants. Full article

Pneumomediastinum is the collection of free air in the mediastinum. Its incidence is higher in preterm infants and those on positive airway pressure support or on mechanical ventilation. But it has decreased dramatically after the introduction of surfactant and synchronized, non-invasive mechanical ventilation. Underlying cystic lesions could also increase the risk of pneumomediastinum and other air leak syndromes. Most cases resolve spontaneously but rare hemodynamic compromise may require ultrasound-guided intervention. Full article