Congenital Pulmonary Airway Malformation Type Research Articles

A radiolucent cystic lesion in a chest radiograph of a breathless child − a case report

A radiolucent cystic lesion is a common finding on chest radiographs of children presenting with acute breathlessness, and congenital pulmonary airway malformation (CPAM) is a relatively uncommon cause of it. The majority of children with CPAM present with respiratory distress of varying severity in the neonatal period. Here, we discuss the case of an 18-month-old child who had a recent history of worsening breathlessness, and on thorough evaluation, he was diagnosed as having CPAM (type 1 variant). Inadvertent chest tube insertions should be avoided in these cases, as it can worsen the underlying condition. A computerized tomography (CT) chest scan plays a key role in diagnosing and assessing the therapeutic intervention in these cases. Surgical resection of the lesion is curative and has an excellent prognosis in the majority of cases of type 1 CPAM.

Congenital Pulmonary Airway Malformation Type 1 with Pulmonary Neuroendocrine Cell Hyperplasia in an Adult Male: a Rare Case Report

Abstract Introduction/Objective Congenital pulmonary airway malformations (CPAM) is rare, usually diagnosed in the pediatric population, and may occur in adults. Pulmonary neuroendocrine cell hyperplasia (PNECH) mimicking diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) associated with CPAM has not been described previously. We report a case of CPAM Type 1 with PNECH. Methods/Case Report A 33-year-old male, with past medical history of latent tuberculosis (TB) by Quantiferon blood testing, recurrent pneumonia, recurrent lung abscesses, and lung cavitary lesion for three years, presented with fever, cough with hemoptysis, shortness of breath, and left-sided chest pain. Computerized tomography of chest displayed a 10.8 cm cavitary lesion in the left lower lobe of the lung. The patient underwent left lower lobectomy of the lung. Grossly, the lobectomy specimen revealed a 10.5 cm irregular cavity communicating to the superior segmental bronchus of the left lower lobe. Microscopically, the dominant large cyst was surrounded by lung parenchyma and small cystically dilated spaces resembling bronchioles under the fibrotic pleura. The large cyst was lined by respiratory epithelium with rare pathognomonic mucous cells in clusters. Cyst walls contained smooth muscle, small islands of cartilage, and focal intense acute and chronic inflammatory cell infiltrates with hemorrhage. There were multiple foci of proliferation of pulmonary neuroendocrine cells centered around bronchioles surrounding the large cyst. The neuroendocrine cells were arranged from individual cells and cellular aggregates to larger tumorlets, highlighted by Synaptophysin and Chromogranin immunostains. No granuloma or necrosis was present. No acid-fast bacilli or fungal microorganisms were identified by special stains. The findings are consistent with CPAM type 1, with PNECH. Results (if a Case Study enter NA) NA Conclusion Our study demonstrates a histologically diagnosed adult congenital pulmonary airway malformations type 1 with an incidental pulmonary neuroendocrine cell hyperplasia, which mimics diffuse idiopathic pulmonary neuroendocrine cell hyperplasia. To the best of our knowledge, this is the first report of such an association.

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.

Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic adenomatoid malformation, extra- and intralobar sequestration (EIS), congenital lobar emphysema (overexpansion), and bronchogenic cyst. The developmental model of CPAM histogenesis by Stocker proposed perturbations designated as CPAM type 0 to type 4 without known or specific pathogenetic mechanisms along the airway from the bronchus to the alveolus. This review highlights mutational events either at the somatic level in KRAS (CPAM types 1 and possibly 3) or germline variants in congenital acinar dysplasia, formerly CPAM type 0, and pleuropulmonary blastoma (PPB), type I, formerly CPAM type 4. The potential for overt malignant progression exists in the case of PPB type I and CPAM type 1 in some cases to well-differentiated mucinous adenocarcinoma. On the other hand, CPAM type 2 is an acquired lesion resulting from interruption in lung development secondary to bronchial atresia. The latter is also regarded as the etiology of EIS whose pathologic features are similar, if not identical, to CPAM type 2. These observations have provided important insights into the pathogenetic mechanisms in the development of the CPAMs since the Stocker classification.

19 Days Old Neonate with Congenital Pulmonary Airway Malformation: A Case Report

Congenital Pulmonary Airway Malformation (CPAM), previously known as Congenital Cystic Adenomatoid Malformation (CCAM) is a rare dysplastic lesion of the fetal tracheobronchial tree. Here we report a 19 days male child with respiratory distress. Right sided Congenital Pulmonary Airway Malformation Type 1 was diagnosed. Right thoracotomy with upper and middle lobectomy was carried out with successful management of the child.

Was It Pneumothorax? A Case Report of a Neonate with Congenital Pulmonary Airway Malformation from Rural Nepal

Formerly called congenital cystic adenomatoid malformation (CCAM), congenital pulmonary airway malformation (CPAM) is a rare but most common congenital lung malformation that may manifest as an asymptomatic lesion at birth or in later life. The diagnosis may be difficult and is easily confused for pneumothorax often resulting incorrect ICD insertion on an emergency basis, which causes complications and delays accurate diagnosis. We report a case of a neonate, who presented with increasing respiratory distress at birth and hyperlucency in a chest radiograph initially misdiagnosed as pneumothorax and ICD inserted, later correctly diagnosed as CPAM type I with help of a CT chest. This case report is presented to highlight that CPAM is a rare cause of respiratory distress in newborns at birth.

Extralobar Pulmonary Sequestration in Adrenal Mimicking Neuroblastoma: A Case Report

Background: Extralobar pulmonary sequestration (ELS) is a malformation composed of bronchopulmonary tissue outside the lungs that is discontinuous from the main tracheobronchial tree. ELS can present as a suprarenal space occupying lesion. Case Report: A 1-day old girl presented with a right supra-adrenal mass, first detected in-utero at 34 weeks. The differential included congenital neuroblastoma, but the urinary VMA was normal. At resection, there was lung tissue composed of dilated and tortuous bronchioles lined by columnar epithelium present in a back- to- back arrangement along with thick-walled vessels, features of an ELS with congenital pulmonary airway malformation type II. Conclusion: ELS enters the differential diagnosis of neonatal suprarenal masses with normal urinary catecholamines, and can have the morphology of a type II congenital pulmonary airway malformation.

Mucinous adenocarcinoma in a neonate with congenital pulmonary malformation

Congenital pulmonary airway malformation (CPAM) is a rare developmental abnormality of the lower respiratory tract, often diagnosed during routine prenatal ultrasonography. We report a full-term newborn female noted to have a large mass in the left hemithorax during prenatal ultrasound, at 35 weeks gestation. A multicystic lesion in the lower left chest was confirmed using a Chest Radiograph and Computed Tomography (CT) angiogram. Her hospital course was next followed by a left lower lobectomy, with resultant pathology of CPAM Type 1 and invasive mucinous adenocarcinoma. Though patients with asymptomatic CPAM are often managed by observation, our case of unexpected malignancy advocates early considerations towards Surgery.

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report

Background: Trisomy mosaicism of chromosome 5 is uncommon with few cases described. Case report: A 41-year-old woman underwent ultrasound (US) at 16 weeks, which showed oligohydramnios and intrauterine growth restriction (IUGR). Amniocentesis discovered a karyotype of 47,XX,+5/46,XX. US at 19 weeks disclosed IUGR, enlargement of right side of heart, main pulmonary artery dilatation, and a suspected congenital pulmonary airway malformation (CPAM) in the inferior lobe of the left lung. Due to poor fetal prognosis, the parents opted for legal termination of pregnancy. At postmortem, a wide ventricular septal defect and CPAM type 3 were found. Cytogenetic analyses on fetal tissues detected mosaic trisomy 5 in skin, thymus, kidneys and CPAM. Placenta and fetal peripheral blood revealed normal female karyotype. Discussion/conclusion: These results suggest that if a fetus presents normal phenotypic features, mosaicism may be confined to extraembryonic structures, otherwise, in case of malformations, it may be carried by affected organs.

Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation

Congenital pulmonary airway malformation (CPAM) occurs most commonly in infants. It is divided into 5 types. The most common types 1 and 2 are cystic, type 0 presents as bronchial buds without alveolar tissue, most likely corresponding to alveolar dysgenesis, while type 3 is composed of branching bronchioles and appears as a solid lesion. A defect in the epithelial-mesenchymal crosstalk might be the underlying mechanism for all. Type 4 is a peripheral cystic lesion with a thin cyst wall covered by pneumocytes. CPAM 4 has been mixed up with pleuropulmonary blastoma (PPB) type I and some authors question its existence. We investigated five cases of CPAM type 4 for the presence or absence of rhabdomyoblasts, and for markers associated with CPAM development. In addition, all cases were evaluated for mutations within the Dicer gene and for mutations of the RAS family of oncogenes. All five cases showed smooth muscle actin and desmin-positive cells; however, only one case showed a few cells positive for MyoD. The same case showed a mutation of Dicer 1. All cases were negative for mutations of the RAS family of genes. Fibroblast growth factor 10 was similarly expressed in all cases, and thus cannot be used to differentiate CPAM4 from PPB-I. Low expression of the proliferation marker Ki67 was seen in our CPAM 4 cases and the probable PPB-I case. YingYang-1 protein seems to play an active role in the development of PPB-I. CPAM 4 can be separated from PPB-I based on the presence of rhabdomyoblasts and mutations in Dicer 1 gene. These cells might not be numerous; therefore, all available tissue has to be evaluated. As CPAM 4 morphologically looks very similar to PPB-I, it might be speculated, that there exists a potential for progression from CPAM 4 to PPB-I, by acquiring somatic mutations in Dicer 1.

Obstetric and neonatal outcomes in pregnancies complicated by fetal lung masses: does final histology matter?#

Purpose Fetal lung masses complicate approximately 1 in 2000 live births. Our aim was to determine whether obstetric and neonatal outcomes differ by final fetal lung mass histology. Materials and methods A review of all pregnancies complicated by a prenatally diagnosed fetal lung mass between 2009 and 2017 at a single academic center was conducted. All cases included in the final analysis underwent surgical resection and histology diagnosis was determined by a trained pathologist. Clinical data were obtained from review of stored electronic medical records which contained linked maternal and neonatal records. Imaging records included both prenatal ultrasound and magnetic resonance imaging. Fisher’s exact test was used for categorical variables and the Kruskal–Wallis test was used for continuous variables. The level of significance was p<.05. Results Of 61 pregnancies complicated by fetal lung mass during the study period, 45 cases underwent both prenatal care and postnatal resection. Final histology revealed 10 cases of congenital pulmonary airway malformation (CPAM) type 1, nine cases of CPAM type 2, and 16 cases of bronchopulmonary sequestration. There was no difference in initial, maximal, or final CPAM volume ratio between groups, with median final CPAM volume ratio of 0.6 for CPAM type 1, 0.7 for CPAM type 2, and 0.3 for bronchopulmonary sequestration (p = .12). There were no differences in any of the maternal or obstetric outcomes including gestational age at delivery and mode of delivery between the groups. The primary outcome of neonatal respiratory distress was not statistically different between groups (p = .66). Median neonatal length of stay following delivery ranged from 3 to 4 days, and time to postnatal resection was similar as well, with a median of 126 days for CPAM type 1, 122 days for CPAM type 2, and 132 days for bronchopulmonary sequestration (p = .76). Conclusions In our cohort, there was no significant association between histologic lung mass subtypes and any obstetric or neonatal morbidity including respiratory distress.

Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome

A 26-year-old female, G4 P2012 presented for an anatomy scan at 18 weeks. Multiple macrocysts were seen in the left fetal lung, which lead to a diagnosis of congenital pulmonary airway malformation (CPAM) type II. A fetal MRI examination performed at 24 weeks of gestation confirmed the diagnosis of CPAM type II. A genetic amniocentesis was done to rule out a fetal chromosomal abnormality and the fetus was found to have mosaic Klinefelter syndrome. Fetal CPAM is not usually associated with chromosomal abnormalities unless there are other fetal malformations present. This is the first known case where a fetus with CPAM and no other malformation was found to have mosaic Klinefelter syndrome. Therefore, we believe it is prudent to offer prenatal diagnostic testing whenever a fetus with CPAM is identified with ultrasound.

209: Obstetric and neonatal outcomes in pregnancies complicated by fetal lung masses: does final histology matter?

The predicted etiology of prenatally diagnosed fetal lung masses is not always consistent with lung mass histology at the time of neonatal resection. Most data to date describe outcomes based on prenatal imaging characteristics. Our aim was to assess obstetric and neonatal outcomes by fetal lung mass histology. We reviewed all pregnancies complicated by fetal lung mass from a single academic center from 2009-2017. For the current analysis, only those with prenatal and neonatal data, including final histology data, were included. Maternal demographics, prenatal imaging, obstetric and neonatal outcomes were analyzed and compared between lung mass histologic categories: bronchopulmonary sequestration (BPS) and congenital pulmonary airway malformation (CPAM) subtypes. The primary composite outcome was neonatal respiratory distress defined as any of: continuous positive airway pressure; intubation and mechanical ventilation; extracorporeal membrane oxygenation; or resection of the lung mass before neonatal discharge. Of 60 pregnancies complicated by fetal lung mass during the study period, 43 had prenatal, postnatal, and final histology data. Of those, there were 10 cases of CPAM type 1, 9 cases of CPAM type 2, and 16 cases of BPS. There was 1 case of CPAM type 3, which was not included in the analysis due to low incidence. Maternal age, race/ethnicity, insurance status, and parity were similar between histologic categories. There was no difference in gestational age at delivery, IUGR, mode of delivery, birthweight, or Apgar scores between groups. PPROM was the only adverse outcome that approached statistical significance (0% in CPAM type 1, 33.3% in CPAM type 2, 6.2% in BPS, p = 0.07). Neonatal respiratory distress was not statistically different between the groups (30.0% in CPAM type 1, 22.2% in CPAM type 2, 43.8% in BPS, p = 0.66), and there was no difference in neonatal length of stay, time to postnatal resection, or neonatal mortality (Table). Final histology of a prenatally diagnosed fetal lung mass may not be associated with different obstetric and neonatal outcomes, including respiratory distress at birth. Our results can inform fetal surveillance and maternal counseling.

Types II and III congenital pulmonary airway malformation with hydrops treated in utero with percutaneous sclerotherapy.

To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All patients underwent ultrasonic measurement of the CPAM volume ratio. Results are expressed as median (range). Gestational age at initial sclerotherapy was 22.0weeks (19.6-31.4); 3 patients underwent 2 procedures. Intrauterine fetal demise (IUFD) occurred in 4 cases; 2 died on postoperative day #1 (one from inadvertent intravascular EO injection); 2 died >6weeks after the procedure. Preoperative CPAM volume ratio was 3.6 (1.6-7.8) in survivors and 2.7 (1.7-4.7) in those with IUFD. The volume of EO at the initial sclerotherapy procedure was 3mL (2-5) in survivors and 7mL (6-10) in IUFD cases. The gestational age at delivery of the 4 survivors was 38.4weeks (37.4-39.3); all underwent postnatal resection. The efficacy of percutaneous sclerotherapy for CPAM types II and III remains in question. Further studies are needed to determine the optimal dose of sclerotherapy agent and the safety and efficacy of this procedure.

A Complication of Percutaneous Sclerotherapy for Congenital Pulmonary Airway Malformation: Intravascular Injection and Cardiac Necrosis

ABSTRACTIntroduction: A congenital pulmonary airway malformation (CPAM) type III may become large enough to cause hydrops fetalis. In such circumstances, the fetus can be treated with open fetal resection, maternal betamethasone administration, or percutaneous sclerotherapy. Case report: A 24 week gestation fetus with a CPAM type III was treated by percutaneous sclerotherapy using ethanolamine oleate (EO). The EO inadvertently entered the left atrium and ventricle with subsequent fetal bradycardia and demise. Autopsy revealed myocardial necrosis. Conclusion: Percutaneous sclerotherapy has been previously described in the literature for the treatment of microcystic CPAMs with secondary hydrops. This is the first reported case of an adverse event after fetal sclerotherapy.

BILATERAL AND MULTILOBAR CONGENITAL PULMONARY AIRWAY MALFORMATION TYPE 2: A RARE CASE

RespirologyVolume 22, Issue S3 p. 278-278 APSR Poster Abstracts BILATERAL AND MULTILOBAR CONGENITAL PULMONARY AIRWAY MALFORMATION TYPE 2: A RARE CASE First published: 23 November 2017 https://doi.org/10.1111/resp.13207_514Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume22, IssueS3Supplement: 22nd Congress of the Asian Pacific Society of Respirology, International Convention Centre, Sydney, Australia, 23–26 November 2017November 2017Pages 278-278 RelatedInformation

Congenital Pulmonary Airway Malformation Type 2: A Case Report with Review of the Literature.

A congenital pulmonary airway malformation is a rare disorder of the pulmonary airway and a hamartomatous mass of disorganized lung tissues with various degrees of cystic change. A 20-year-old pregnant woman who did not have previous clinical follow-up during her pregnancy visited the gynecology department for her first check on the 19th week of gestation. The sonogram, showed severe hydrops fetalis. Laboratory findings were consistent with non-immune hydrops fetalis. Medical abortion was performed and the fetus was sent to our department for a complete fetal autopsy. Macroscopically, whole parts of the fetus had striking oedema. Massive pleural and peritoneal effusions were seen on dissection. The left lung filled the whole thoracic cavity. The heart was displaced to the right and the right lung was compressed. Microscopically, the left lung mass showed dilated bronchiole-like structures (1-20 mm) that were lined with ciliated columnar cells without any intervening mucinous cells. The subepithelial stroma contained thin, interrupted smooth muscle fibers and elastic connective tissue without cartilage plates. Our case is a very good example of non-immune hydrops fetalis associated with congenital pulmonary airway malformation type 2. Prenatal clinical and ultrasonographic follow-ups during pregnancy are very important for early diagnosis of congenital malformations.

無症状で発見されたCPAM4型の1手術例

無症状のCongenital Pulmonary Airway Malformation（CPAM）に対しての治療方針は，確立されていない．今回，我々は無症状のCPAM4型の1例を経験したので報告する．症例は無症状で肺炎などの既往のない5歳女児．健診胸部X線にて右下肺野に異常陰影を指摘された．胸部CT画像で右下葉に直径40 mmのやや壁の厚い円形嚢胞を認めた．1年間の経過観察後，嚢胞の縮小を認めなかったため胸腔鏡下右下葉切除を行った．術後経過は良好で術後8日目で退院．切除標本の割面には大小の嚢胞が形成され嚢胞壁は扁平な上皮細胞で覆われ，TTF-1陽性であった．また，異型細胞や軟骨・粘液成分は認めず嚢胞周囲に閉塞性肺炎の所見も認めなかった．以上よりCPAM 4型と診断した．CPAM4型の頻度は全体の2-4％と少なく，極めて稀な疾患であり本邦では2例目の報告である．無症状例における手術治療の是非，手術時期については一定の指針がなく，個々の症例ごとに十分な検討を行い手術時期および経過観察期間を決定していくべきである．

Term Infant With Respiratory Distress and Desaturations

On day 2 after birth, a term male infant began having episodes of tachypnea and oxygen desaturation to 60% to 70% during feeding, which self-resolved after removing the nipple. A chest radiograph showed a hazy opacity in the right lower lung field. Physical examination revealed an unlabored breathing pattern with equal air entry in all lung fields. (Figure 1). Figure 1. Figure 2. Right lung multicystic lesion. Figure 3. Right lung cystic lesion, with possible feeding vessel (anterior view). Figure 4. MRI repeated at 34 weeks’ gestation showed minimal regression of the mass, with continued multicystic appearance but no definitive mass effect (posterior view). ### Prenatal and Birth Histories The patient was not to have anything by mouth, but he continued to have frequent oxygen desaturation episodes without associated respiratory distress.

Identical Twins with Lethal Congenital Pulmonary Airway Malformation Type 0 (Acinar Dysplasia): Further Evidence of Familial Tendency

We report a case of identical twins with lethal congenital pulmonary airway malformation (CPAM) type 0. Twin A expired several hours after birth, and twin B was sustained by extra-corporeal membrane oxygenation (ECMO) support; however, care was withdrawn from twin B following the autopsy of twin A, which revealed a diagnosis of CPAM type 0. Both twins showed pulmonary hypoplasia, histologically consistent with CPAM type 0 and pulmonary hypertension. Furthermore, the family also had a previous male who presented with pulmonary hypoplasia and respiratory failure and died shortly after birth; however, no autopsy was performed to confirm a diagnosis of CPAM. Here, in discussing our case, as well as previously reported cases, we demonstrate CPAM type 0's high prevalence among females (9:1 ratio). From the reported cases, it appears that CPAM type 0's tendency to recur in families is up to 40%, suggesting an autosomal recessive inheritance pattern. However, the actual tendency of familial recurrence is hard to assess due to the rarity of the disease and the potential lack of reporting CPAM type 0 cases. To our knowledge, our report represents the first description of CPAM type 0 in identical twins.

Congenital Pulmonary Airway Malformation (CPAM) [Congenital Cystic Adenomatoid Malformation] Associated with Tracheoesophageal Fistula and Agensesis of the Corpus Callosum

Congenital pulmonary airway malformations (CPAM) are a family of hamartomatous disorders due to the uncontrolled overgrowth of the terminal bronchioles. Congenital pulmonary airway malformations can co-exist with cardiovascular and/or urogenital malformations, but their association with thoracopulmonary malformations is extremely rare. We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis.