Visual diagnosis: an adolescent female who has persistent cough.

CYSTIC ADENOMATOID MALFORMATION OF THE LUNG IN AN ADULT: A CASE REPORT

Pulmonary sequestration and cystic pulmonary adenomatoid malformation are rare congenital cystic disorders of the lungs. The presence of both the diseases in the same individual is therefore very uncommon. Pulmonary sequestration is a nonfunctional pulmonary tissue mass that derives its blood supply from systemic blood supply other than pulmonary circulation. Congenital cystic pulmonary adenomatoid malformation represents a mass consisting of abnormal bronchiolar air spaces and a deficiency of functional alveoli. This is the case report of a 9-year-old girl with intermittent fever, left-sided chest pain, and cough for the past 15 days along with recurrent coughs since childhood suggestive of hybrid pulmonary sequestration, congenital cystic adenomatoid malformation, and dextrocardia.

In many organs, integrins and cadherins are partly regulated by Hox genes, but their interactions in airway morphogenesis and congenital lung diseases are unknown. We previously showed that the Hox protein HoxB5 is abnormally increased in bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM), congenital lung lesions with abnormal airway branching. We now report on alpha(2)-, alpha(3)-, and beta(1)-integrin and E-cadherin expression in normal human lung and in BPS and CCAM tissue previously shown to have abnormal HoxB5 expression and on the relationship of cell adhesion molecule expression to Hoxb5 regulation. alpha(2)-, alpha(3)-, and beta(1)-integrins and E-cadherin expression in normal human lung and BPS and CCAM were evaluated using Western blot and immunohistochemistry. Fetal mouse lung fibroblasts with Hoxb5-specific siRNA downregulation were evaluated for alpha(2)-integrin protein levels by Western blot. Compared with normal human lung, a previously undetected alpha(2)-integrin isoform potentially lacking essential cytoplasmic sequences was significantly increased in BPS and CCAM, and alpha(2)-integrin spatial and cellular expression was more intense. E-cadherin protein levels were also significantly increased, whereas alpha(3) increased in CCAM compared with canalicular, but not with alveolar, stage lung. beta(1)-integrin levels were unchanged. We conclude that in BPS and CCAM, altered alpha(2)-integrin cytoplasmic signaling contributes to abnormal cellular behavior in these lung lesions. Aberrant cell adhesion molecule and Hox protein regulation are likely part of the mechanism involved in the development of BPS and CCAM.

Congenital pulmonary airway malformation (CPAM) and pulmonary sequestration (PS) are among the most common congenital lung malformations and their association is extremely rare. In exceptional cases, patients with CPAM remain asymptomatic until adulthood. We report the case of a 30-year-old man who was hospitalized in our pneumology department for fever, cough and chest pain. Radiological and histological findings confirmed the coexistence of CPAM and PS. The patient underwent surgical resection and recovered well. This is one of the few reported cases in the literature that describe the uncommon association of CPAM and PS with an infrequent diagnosis in adulthood. Clinicians should consider congenital malformations in the differential diagnosis of recurrent respiratory infections, particularly when they affect the same pulmonary lobe.

To assess fetal vs. neonatal diagnoses, pregnancy outcomes and need for surgery in babies prenatally diagnosed with congenital pulmonary airway malformation (CPAM) or bronchopulmonary sequestration (BPS). Retrospective single-centre cohort study of fetuses with a prenatal diagnosis of CPAM or BPS between 2006 and 2014. Data collected included serial antenatal ultrasound information and neonatal/infant diagnoses and outcomes. Initial ultrasound diagnosis (n=63) was CPAM in 51 and BPS in 12: nineteen (30%) fetuses had mediastinal shift and 2 (3%) had hydrops. All neonates with known birth outcome (n=56) were liveborn. Final diagnosis in 52 infants (83%) with neonatal imaging and/or histopathology confirmed CPAM in 17/44 (39%) and BPS in 6/9 (67%). Of 34 prenatally suspected but unconfirmed CPAM lesions: 10 hadno lesion on neonatal imaging, one no neonatal imaging performed, five confirmed BPS, 11 other lung/thoracic lesions, seven were lost to follow-up. There was one infant death. 27/63 infants (43%) had post-natal surgery. More neonates requiring neonatal respiratory support/resuscitation had surgery compared to those who did not (67% vs. 29%, P=0.008). Patients with suspected CPAM or BPS on both initial and final ultrasound were more likely to have post-natal surgical management than when a lesion was no longer visible on final antenatal ultrasound (68% vs. 23%, P=0.001). Over 50% of antenatally suspected CPAM/BPS either regressed or had an alternate post-natal diagnosis. Perinatal outcome was good, with the majority of neonates/infants conservatively managed. Persistently visible antenatal lesion and need for neonatal respiratory support predicted ultimate surgical management.

Objective To investigate the diagnostic value of ultrasound and MRI in fetal bronchopulmonary sequestration (BPS). Methods The 7 pregnant women with suspected fetal BPS were examined with a 1.5 T MR unit within 24 h after prenatal ultrasound in Hubei Maternal and Children's Hospital during July 2013 to February 2015. The imaging protocol included half-fourier acquisition single shot turbo SE (HASTE), true fast imaging with steady state precession (True FISP) in axial, frontal and sagittal planes relative to the fetal thorax. Prenatal MRI findings have been compared with postnatal enhanced computed tomography or biopsy. Results The locations of BPS were in left side in 5 cases and in right side in 2 cases. One case was complicated with congenital cystic adenomatoid malformation (CCAM) of lung. Ultrasound showed the intrathoracic mass as a hyperechoic lesion and the feeding artery could be found by Doppler ultrasonography. T2WI could reveal not only the hyperintense lesions with clear boundary, but also the hypointense feeding artery originating from systemic circulation. Compared with pathological examination or enhanced CT, both of the ultrasound and the MRI could locate the lesions; however 2 feeding arteries were misjudged. Conclusions Prenatal ultrasound is the first-choice diagnostic modality for BPS. MRI can demonstrate the location, morphology and the feeding arteries of the fetal BPS, and also estimate the volume of normal lungs, which could be an important supplement to prenatal ultrasound in prenatal diagnosis and prognostic prediction of BPS. Key words: Ultrasonography, prenatal; Magnetic resonance imaging; Fetus; Lung; Bronchopulmonary sequestration

Background: A paucity of evidence regarding the natural history of CCAM and PS has resulted in a divergence in management strategy of asymptomatic cases. Methods: Retrospective review of all cases referred to a single institution from 1996 and followed-up for at least 5 years. Study entry required prenatal identification of a cystic lung lesion on ultrasound scan and confirmation of CCAM/PS on postnatal CT imaging. Results: 51 (43%) patients were managed surgically; 8 (6.7%) as a neonatal emergency. Indications for elective surgery included: concerning features on CT, 6 (5.1%); medical advice, 20 (17%); other, 6 (5%). Recurrent respiratory infection was the indication in 11 (9.2%) with a median age at surgery of 1.6 years (range 0.4 to 4.6 years). No cases of malignancy were identified on histological examination. 68 (57%) patients were managed conservatively for a median period of 9.9 years (range 5.2 years to 18 years). Of these patients 52 (76%) continue follow-up and remain asymptomatic. Sixteen patients are not followed-up; 4 (5.9%) following spontaneous resolution and 12 (17%) for other reasons. Conclusion: Conservative management of asymptomatic CCAM and PS is a reasonable option during the paediatric period.The risk of recurrent infection is

Introduction: Fetal body tumors are rare, but the ability to diagnose them has improved over recent years. Most masses discovered in the chest results from fetal bronchopulmonary malformations, such as congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Congenital cystic adenomatoid malformation and bronchopulmonary sequestration have a reported incidence of 50% and 33% of all prenatally diagnosed lung lesions, respectively.Material and methods: Retrospective analysis of the congenital cystic adenomatoid malformation and bronchopulmonary sequestration cases diagnosed or surveilled at our department, between January 2003 and March 2013. Prenatal examination, evolution, management and patient outcome were analyzed.Results: A total of 918 fetal malformations were diagnosed at our hospital, 17 of them representing fetal bronchopulmonary malformations. The majority were diagnosed during the second trimester and stabilized or regressed during the third trimester of pregnancy. The pregnancies and deliveries had no other relevant findings or complications, except in three cases. Nine children required surgery. All of the children are healthy and have a normal development, with regular surveillance by the pediatricians.Discussion: The majority of these fetal lung masses are isolated findings that partially regress during intrauterine life. With adequate postnatal surveillance and eventual surgery the prognosis is good.

The normal and abnormal development of the organs lying within the fetal thorax is discussed. The abnormalities reviewed include more common findings of pulmonary hypoplasia, congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, as well as the rarer conditions of congenital fetal hydrothorax, congenital high airway obstruction syndrome, bronchogenic cysts, neurenteric cysts, and lung agenesis. With each abnormality, the clinical implications for the fetus, best methods for prenatal diagnosis, as well as possible additional anomalies, syndromes, and aneuploidies are described. In utero and postnatal treatments are also reviewed. This review contains 10 figures, and 37 references. Key Words: Pulmonary hypoplasia, lung-head ratio, congenital diaphragmatic hernia, congenital pulmonary airway malformation, congenital fetal hydrothorax, bronchopulmonary sequestration, congenital high airway obstruction syndrome, bronchogenic cyst, neurenteric cyst, lung agenesis

BackgroundThe most common space occupying lesions of the fetal thorax are congenital diaphragmatic hernia (CDH), congenital cystic adenomatoid malformation (CCAM), and bronchopulmonary sequestration (BPS). Although applications of prenatal MRI have been vastly improved in the recent years, its use in the assessment of space occupying lesions of the fetal chest differs among centers.ObjectivesTo evaluate MRI findings in the diagnosis and follow-up of space-occupying lesions in the fetal chest with the review of relevant literature.Patients and MethodsThe fetuses with space-occupying lesions of the chest were retrieved from our 1.5T fetal MRI database of 347 patients. MRI features including the shape, signal characteristics, feeding artery, margin, mass effect, affected organ parts and anatomic location were reviewed. The results were correlated with the pathology results, follow-up and surgical findings.ResultsNineteen MR images of 17 fetuses (mean gestational age, 23.8 weeks) with spaceoccupying lesions (5 CCAMs including one involuted case), 2 BPSs, 2 hybrid lesions, 8 CDH) were evaluated. One case of CCAM completely involuted in utero, four newborns were operated, and the resulting 12 fetuses were terminated. The surgical and pathological findings were in accordance with MRI findings.ConclusionMRI can reliably differentiate CDH from CCAM and BPS in utero. Follow-up is of utmost importance as lesions may involute or progress in utero. Prenatal MRI findings help postnatal decision-making, surgical planning and parental counseling.

SUMMARYOBJECTIVE:This study aimed to assess the perinatal outcomes of pregnancies with a prenatal diagnosis of congenital cystic adenomatoid malformation.METHODS:We conducted a retrospective cohort study based on information contained in the medical records of pregnant women whose fetuses had been prenatally diagnosed with congenital cystic adenomatoid malformation by ultrasonography.RESULTS:Sample analysis was based on 21 singleton pregnancies with confirmed isolated fetal congenital cystic adenomatoid malformations. The mean maternal±standard deviation age was 28±7.7 years. Types I, II, and III congenital cystic adenomatoid malformation were detected in 19% (4/21), 52.4% (11/21), and 28.6% (6/21), respectively. All fetuses presented with unilateral congenital cystic adenomatoid malformation (21/21) without associated anomalies, and 52.3% (11/21) were in the right lung. In total, 33.3% (7/21) of fetuses presented a “congenital cystic adenomatoid malformation volume ratio” >1.6 and were managed with maternal betamethasone administration. The mean gestational age at the time of steroid administration was 28.5±0.9 weeks, with a reduction in the lesion dimensions of 9.5% (2/21) (Types I and III of congenital cystic adenomatoid malformation). The mean gestational age at delivery was 38.7±2.4 weeks, and a cesarean section was performed in 76.2% (16/21) cases. Postsurgical resection was necessary for 23.8% (5/21) of the patients, and 4.7% (1/21) of them died because of respiratory complications after surgery. Pulmonary hypoplasia occurred in 9.5% (2/21) of the patients, and 4.7% (1/21) of them died because of respiratory insufficiency. The survival rate was 90.5% (19/21), and 57.2% (12/21) remained asymptomatic.CONCLUSION:Despite the isolated prenatal diagnosis of congenital cystic adenomatoid malformation, which showed good survival, congenital cystic adenomatoid malformation is associated with significant perinatal morbidity. Maternal betamethasone administration did not significantly reduce fetal lung lesion dimensions.

Congenital Lung Malformations: A Comprehensive Overview of Current Knowledge-Narrative Review.

Aim The aim was to show rare cases of congenital cystic adenomatoid malformation (CCAM) and the manner of its surgical treatment with video-assisted thoracoscopic surgery (VATS). Methods Two male and one female child, 7, 4 and 3 years of age were treated for symptoms of cough and high temperature in district hospitals. In all three children laboratory blood tests and chest radiography were done. Auscultatory findings showed the presence of pneumonia. Children were treated with appropriate doses of antibiotics. After the rehabilitation of inflammation, they were sent to the University Clinical Center Sarajevo, where video-assisted thoracoscopic lobectomy (VATS) was indicated after computerized tomography (CT). Results Chest CT scan pointed to the CCAM and pulmonary sequestration (PS) changes to the lungs. This has required surgery lobectomy of an affected part of the lungs. In two children with PS, the aberrant systemic artery came from the most proximal part of aorta abdominals, the third patient did not have an anomalous artery. Conclusion VATS lobectomy is an alternative to the traditional thoracotomy for the treatment of CCAM and PS, however, it should be investigated in the future for its safety and effectiveness.

Rationale:Esophageal duplication cyst (EDC) is a rare developmental aberration originated from the embryonic foregut. It may remain asymptomatic but produce local mass effect on surrounding organs if rapid enlarges. EDC may sometimes accompany with other congenital malformations. Congenital pulmonary airway malformation (CPAM) is a congenital lung malformation with an unknown chance of developing symptoms. Here we report a rare case of esophageal duplication cyst with type 2 congenital pulmonary airway malformation (CPAM).Patient concerns:A 16-month old boy with a prenatal diagnosis of type 2 CPAM presented progressive stridor and respiratory distress and was admitted to our hospital under the diagnosis of pneumonia. The patient responded poorly to antibiotics. A chest Xray (CXR) showed consolidation over the left upper lobe with trachea deviated to right side. A chest computed tomography (CT) revealed a cystic lesion sized 3.3 × 3.3 cm in the superior mediastinum.Diagnoses:Post-operative pathological report confirmed the diagnosis of esophageal duplication cyst.Interventions:We pre-medicated the patient with steroids and inhaled bronchodilators for airway maintenance. Then the patient received tumor resection via median sternotomy.Outcomes:The patient recovered without complication and discharged smoothly 4 days after the surgery.Lessons:EDC is a rare but potentially life-threatening disease owning to compression of large airways. Chest CT scan could detect the lesion non-invasively and should be considered in patients with persistent stridor, as well as CXR findings of the trachea deviated by a mass lesion in mediastinum, especially for those with CPAM.

The etiopathogenesis of pleuropulmonary blastoma (PPB) and its relationship to congenital cystic adenomatoid malformation (CCAM) remain controversial. Our recent analysis indicates that both the co-incidental occurrence and the outcome of PPB among CCAM patients are significant. We report here on our efforts to determine clinical and radiological features discriminating PPB from CCAM preoperatively. A retrospective analysis of all patients treated for PPB and CCAM between 1981 and 2008 at 2 tertiary academic centers under a centralized, single payer healthcare system was performed (REB#1000013239). Clinical, radiological and demographic data were analyzed. PPB patients were secondarily age matched with CCAM patients (± 10% age difference in months), and clinical, radiological and demographic variables were compared. Descriptive statistics and non-parametric analysis were used. A total of 10 PPB patients was identified. Median age at diagnosis was 24 months; the male to female ratio was 5:5. No PPB patients had an antenatal diagnosis (p<0.01). 9 were symptomatic, with symptoms including dyspnea (7/10), upper respiratory infection (6/10), poor weight gain (3/10), and 1 patient was asymptomatic. 5 of 10 patients had solid parts on CT, of which 4 out of 5 were diagnosed preoperatively as PPB and 1 out of 5 as CCAM. 5 of 10 were predominantly cystic of which none was diagnosed preoperatively as PPB (p=0.0476). Given that most CCAM patients are now diagnosed antenatally, only 5 PPB patients could be age-matched with CCAM patients. In the predominantly cystic PPB patients (n=5), no significant discriminating clinical and radiological features were identifiable when compared preoperatively with age-matched CCAM patients. PPB patients continue to represent a diagnostic challenge. Asymptomatic and predominantly cystic PPB remain indistinguishable from CCAM preoperatively. A high index of suspicion for PPB must be considered in any child presenting with cystic lung lesions beyond early infancy, particularly in a child with poor weight gain.