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Introduction: Pulmonary agenesis is a rare lung disease, occurring in approximately 1 out of every 100,000 births. Most cases of pulmonary agenesis result in death during the neonatal period. Although survival in cases of pulmonary agenesis is rare, it is possible to encounter lung agenesis in adults. Case: A 26-year-old female patient presented with progressive dyspnea. On physical examination, retraction of the breathing muscles, reduced chest excursions, and decreased breath sounds on the right side were observed. A chest X-ray raised suspicion of pulmonary agenesis. A computed tomography (CT) scan showed hypoplasia of the right lung, accompanied by mediastinal shift, hyperinflation of the left lung, and retraction of the diaphragm and liver to the right. Spirometry showed moderate obstruction. Conclusion: Pulmonary agenesis in adult patients is extremely rare. Chest X-rays and CT scans are the main diagnostic modalities for pulmonary agenesis. There is no specific treatment for asymptomatic cases. Management focuses on conservative and symptomatic care.

Copyright of Saudi Medical Journal is the property of Saudi Medical Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pulmonary agenesis (PA) is a rare developmental malformation, with a frequency of approximately 1 in 10–15,000 pregnancies. Unilateral PA is often associated with other congenital anomalies, whereas bilateral PA is fatal. Prenatal diagnosis is rare and is diagnosed more frequently in the postnatal period than in the prenatal period. Is a challenge that may be difficult as it shares similar features with other more common pathologies. Ultrasound plays a crucial role in early diagnosis and management. Ultrasonographic findings for a correct prenatal diagnosis include mediastinum displacement with the absence of parenchymal or cystic tissue, decreased thoracic volume, an elevated diaphragm, cardiac axis deviation, and a hemithoracic cavity largely occupied by the heart. Cases of right PA have a worse prognosis compared to left PA, probably due to higher frequency of cardiac and great vessel abnormalities. A rare case of early prenatal ultrasound diagnosis of unilateral fetal PA, at 18 weeks of gestation, is reported.

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect.

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect. [ABSTRACT FROM AUTHOR]

Pulmonary agenesis (PA) is a rare developmental malformation, with a frequency of approximately 1 in 10–15,000 pregnancies. Unilateral PA is often associated with other congenital anomalies, whereas bilateral PA is fatal. Prenatal diagnosis is rare and is diagnosed more frequently in the postnatal period than in the prenatal period. Is a challenge that may be difficult as it shares similar features with other more common pathologies. Ultrasound plays a crucial role in early diagnosis and management. Ultrasonographic findings for a correct prenatal diagnosis include mediastinum displacement with the absence of parenchymal or cystic tissue, decreased thoracic volume, an elevated diaphragm, cardiac axis deviation, and a hemithoracic cavity largely occupied by the heart. Cases of right PA have a worse prognosis compared to left PA, probably due to higher frequency of cardiac and great vessel abnormalities. A rare case of early prenatal ultrasound diagnosis of unilateral fetal PA, at 18 weeks of gestation, is reported. [ABSTRACT FROM AUTHOR]

Lung underdevelopment is a rare congenital anomaly with variable clinical significance and presenting symptoms. It usually manifests during childhood. We present two cases of developmental lung anomaly subtypes and discuss clinical presentation and outcomes in such patient populations.

LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates. Herein, we report a case of late diagnosis and successful transcatheter treatment of aortic coarctation in a 58-year-old male patient with LACHT syndrome, medically resistant arterial hypertension, and left lung agenesis. Baseline CT angiography showed isthmic aortic coarctation and left lung agenesis, with compensatory right pulmonary artery and vein thickenings. The patient underwent balloon dilation and subsequent implantation of a covered NuMED 45 mm 8-ZIG CP stent with satisfactory outcomes. The pressure gradient decreased from 43 to 23 mmHg. The arterial pressures normalized during the follow-up with fewer medications. Genetic testing identified a heterozygous mutation (c.6583C > T) in the FBN2, supporting the diagnosis of variant Marfan syndrome.

Abstract Background Pulmonary agenesis is a rare congenital anomaly with a reported prevalence of about 1 in 100,000 births. It may be bilateral or unilateral. Among the unilateral form, left lung agenesis is more common (70%); however, it is the right lung agenesis which carries a dismal prognosis due to the frequent association with a gamut of other congenital anomalies and greater degree of mediastinal shift leading to tracheo-bronchial and vascular distortion. The patients of unilateral pulmonary agenesis usually present in infancy or early childhood. Presentation in late adulthood as seen in our patient is rare. We present a case of left pulmonary agenesis that was diagnosed in 4th decade of life. Case presentation A 36-year-old male presented with gradually progressive exertional dyspnea of 1 month duration. Clinical examination revealed tachycardia and tachypnea. Chest radiograph showed opaque left hemithorax with ipsilateral mediastinal shift. Computed tomography clinched the diagnosis by demonstrating absence of left main bronchus, lung and left pulmonary artery with shift of heart, and great mediastinal vessels into left hemithorax. The patient was managed conservatively and discharged with attachment to out-patient department for regular follow-up. Conclusion Presentation of unilateral lung agenesis in late adulthood, as seen in the present case is extremely rare. This case report highlights that, a rare condition like unilateral pulmonary agenesis, should be considered in the list of differentials in an adult presenting with opaque hemithorax with ipsilateral mediastinal shift on radiography.

Background: Congenital unilateral lung agenesis is a rare condition in which there is complete absence of one lung, in addition to the associated bronchus and pulmonary vasculature. It can be an isolated finding or present in conjunction with cardiac, gastrointestinal, genitourinary and skeletal malformations. Due to the increasing physiological demands on the body during gestation and parturition, this condition poses significant risks in individuals with this condition. Case: A 26-year-old G1P0 with known right lung agenesis was managed with a multidisciplinary approach by obstetrics, maternal–foetal medicine, pulmonology and cardiology specialists. The patient subsequently had an uncomplicated pregnancy and vaginal delivery. Conclusion: Multidisciplinary care led to an optimal pregnancy outcome in a woman with congenital unilateral lung agenesis. Women with this condition with normal baseline function have a good prognosis in pregnancy.

Lung agenesis is a congenital anomaly usually incidentally found following respiratory tract infections. A six months old infant, second twin, is admitted for respiratory distress with hypoxia and asymmetric lung auscultation. The thoracic CT angiography shows a right pulmonary agenesis. She has recovered during the admission despite a persistent stridor whose flexible nasopharyngoscopy was normal. A long-term inhaled corticosteroid therapy was established during the follow up. Pulmonary agenesis is a rare condition for which a pulmonary radiography has to be done at the slightest doubt. [ABSTRACT FROM AUTHOR]

Background: Pulmonary agenesis is a rare congenital anomaly with a reported prevalence of about 1 in 100,000 births. It may be bilateral or unilateral. Among the unilateral form, left lung agenesis is more common (70%); however, it is the right lung agenesis which carries a dismal prognosis due to the frequent association with a gamut of other congenital anomalies and greater degree of mediastinal shift leading to tracheo-bronchial and vascular distortion. The patients of unilateral pulmonary agenesis usually present in infancy or early childhood. Presentation in late adulthood as seen in our patient is rare. We present a case of left pulmonary agenesis that was diagnosed in 4th decade of life. Case presentation: A 36-year-old male presented with gradually progressive exertional dyspnea of 1 month duration. Clinical examination revealed tachycardia and tachypnea. Chest radiograph showed opaque left hemithorax with ipsilateral mediastinal shift. Computed tomography clinched the diagnosis by demonstrating absence of left main bronchus, lung and left pulmonary artery with shift of heart, and great mediastinal vessels into left hemithorax. The patient was managed conservatively and discharged with attachment to out-patient department for regular follow-up. Conclusion: Presentation of unilateral lung agenesis in late adulthood, as seen in the present case is extremely rare. This case report highlights that, a rare condition like unilateral pulmonary agenesis, should be considered in the list of differentials in an adult presenting with opaque hemithorax with ipsilateral mediastinal shift on radiography. [ABSTRACT FROM AUTHOR]

Background: Congenital unilateral lung agenesis is a rare condition in which there is complete absence of one lung, in addition to the associated bronchus and pulmonary vasculature. It can be an isolated finding or present in conjunction with cardiac, gastrointestinal, genitourinary and skeletal malformations. Due to the increasing physiological demands on the body during gestation and parturition, this condition poses significant risks in individuals with this condition. Case: A 26-year-old G1P0 with known right lung agenesis was managed with a multidisciplinary approach by obstetrics, maternal–foetal medicine, pulmonology and cardiology specialists. The patient subsequently had an uncomplicated pregnancy and vaginal delivery. Conclusion: Multidisciplinary care led to an optimal pregnancy outcome in a woman with congenital unilateral lung agenesis. Women with this condition with normal baseline function have a good prognosis in pregnancy. [ABSTRACT FROM AUTHOR]

Background: There are limited data on congenital lung malformations (CLM) and their clinical course from developing countries. Methods: A 10-year retrospective chart review of records of children with CLM attending pediatric chest clinic at an Indian tertiary care center was conducted. Results: Among the 48 children (24 boys) included in the review, the malformations included congenital lung hypoplasia/agenesis in 24 (50%), cystic pulmonary airway malformation in 9 (19%), bronchogenic/foregut cyst in 8 (18%), and congenital lobar emphysema in 4 (9%). Median (IQR) age at symptom onset and diagnosis were 1.5 (0.4,9.5) and 24 (3,62) months, respectively. Median (IQR) weight for age for age z-score at presentation was −2.4 (−1.4,− 3.4). More than a third (37.5%) children underwent surgical removal of resectable lesions at median (IQR) age of 14 (6,42) months. 14 (27%) children had associated congenital heart disease. Median duration of follow-up was 13 months. In children with lung hypoplasia, median (IQR) number of hospitalizations in follow-up were significantly less than that prior to diagnosis 0 (0,0) vs 1(0,2) (P=0.001). Median (IQR) numbers of hospitalizations in follow up were significantly less than that of prior to surgical resection 0 (0,0) vs 1(1,1) (P=0.016) in children with CPAM. Conclusion: Lung hypoplasia was the most common congenital lung malformation in our setup. Detection of malformation during antenatal period was poor. Age of diagnosis and surgical intervention is often delayed. Regular follow up and definitive and/or supportive management decreased the morbidity. [ABSTRACT FROM AUTHOR]

LACHT syndrome, or Mardini–Nyhan association, is an ultra‐rare disorder, diagnosed solely by the clinical characteristics of lung agenesis, complex cardiac defects, and thumb anomalies. Only 12 patients have been reported worldwide, and here, we report a new clinical diagnosis of LACHT syndrome. Our patient was a male full‐term newborn with left lung agenesis, congenital heart defects including ventricular septal defect, right‐sided aortic arch, with aberrant left subclavian artery and Kommerell diverticulum, as well as left preaxial polydactyly and hemivertebra. Our patient appears to be the second LACHT syndrome case to also suffer from tracheal stenosis, which has only been reported once before in conjunction with this syndrome. In light of this, tracheal stenosis may be a phenotype for LACHT syndrome. [ABSTRACT FROM AUTHOR]

An 8-year-old girl with severe mitral regurgitation presented with symptoms of heart failure. Clinical investigations did not raise suspicion of an absent left pericardium. Congenital defects of the pericardium are rare and frequently associated with other cardiac lesions. We describe a case of severe mitral regurgitation in a child in whom an absent left-sided pericardium with hypoplasia of left lung was found incidentally during surgery to repair the mitral valve. We believe such associations with other heart diseases is usually circumstantial but can influence the perioperative morbidity, length of hospital stay, and even alter the surgical management. [ABSTRACT FROM AUTHOR]

Pulmonary agenesis is an extremely rare congenital anomaly defined as a complete absence of the lung parenchyma, bronchus, and pulmonary vessels. In case of complete unilateral agenesis, no pleural cavity can be found on the affected side. More than 50% of children with lung aplasia die within five years of birth but some individuals live a normal life span with their deformity and may be asymptomatic throughout life. Respiratory tract infections are the greatest danger in these individuals. We report a case of left lung aplasia with bronchiectasis in a young-aged adult who was treated for tuberculosis and was referred to our institute for persistent cough.

Competing Interests: The authors declare that they have no known competing financial or personal interests.

Abstract We present five cases of unusual and rare presentations of different congenital/acquired lung lesions. These cases were encountered during our daily practice. They were misdiagnosed initially and received wrong treatment. There were challenges encountered during the diagnosis and the management of these patients, which required different modalities, ranging from chest radiography, computed tomography to surgical exploration and biopsy, to reach the final diagnosis. These cases range from one absent lung, bilateral intralobar pulmonary sequestrations, bronchogenic cyst, congenital right diaphragmatic hernia to cystic hydatidosis (hydatid cyst). There should be a high index of suspicion when the patient has an abnormal/atypical presentation, a prolonged course of the disease or abnormal imaging. Healthcare providers should also think of rare chest diseases and refer such patients to a paediatric specialist (pulmonologist) to help in the final diagnosis and specific management, which may require invasive procedures or specific imaging.

A 12-month-old boy was diagnosed with agenesis of the right lung. Mediastinal deviation progressed to the diseased side as the patient matured; therefore, tracheal distortion developed. As a result, tracheal compression developed between the vertebral body and aorta. The patient was repeatedly admitted to the hospital because of recurrent pulmonary infection and combined severe respiratory distress. Diaphragm translocation was performed to treat the patient. The postoperative course was favorable, and computed tomography scan findings and symptoms had improved at 1 year after surgery.

Congenital lung agenesis is a rare congenital abnormality associated with an absence or under-development of either one or both lungs, and its presentation in adulthood is even rarer. We describe a 40-year-old female patient with a history of congenital agenesis of the right lung and a high-grade glioma in the frontal region of the brain presenting for craniotomy and excision of the tumor in an MRI suite. Lung protective strategies of ventilation were utilized intraoperatively. The remote location of the MRI suite made access to extra manpower support challenging. The patient was managed uneventfully and discharged stable to the high-dependency unit. Our case describes how congenital lung agenesis poses a unique set of challenges for anaesthetic management, particularly in neurosurgical patients, and provides guidance to a multidisciplinary team approach., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Selvaraj et al.)

Scimitar syndrome is a rare congenital cardiopulmonary anomaly; it is also called venolobar syndrome, hypogenic lung syndrome, and Halasz syndrome. The syndrome is characterized by cardiac dextroposition, right lung and pulmonary artery hypoplasia as well as complete or partial anomalous pulmonary venous drainage of the right lung. We report a case of a 22-month-old full-term male child with a severe form of scimitar syndrome diagnosed at birth. The X-ray demonstrated dextrocardia and right lung hypoplasia, while the echocardiography clearly illustrated the scimitar vein. The patient had multiple ER visits and hospitalizations due to asthma exacerbation that was aggravated by recurrent respiratory tract infections; he responded well to asthma medications during his admissions yet compliance to his prophylactic asthma medications was poor at home., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Jamil et al.)

Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital aplasia of the uterus and the upper two thirds of the vagina with normal secondary sexual characteristics, ovaries, and a normal karyotype (46, XX). We report an extremely rare association of right lung aplasia, MRKH syndrome, and right renal agenesis with left pelvic kidney, which to the best of our knowledge is the first such association reported.

Association of unilateral severe pulmonary atresia or agenesis and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and dextrocardia is a rare and highly lethal combination. We report a case of a full-term female infant who had EA with TEF, right lung agenesis, and dextrocardia. Repair of the fistula took place on day of life 3. We describe anesthetic and surgical concerns of this patient's case which are keys to a good operative outcome as well as follow-up for the patient. [ABSTRACT FROM AUTHOR]

Right lung agenesis is a rare anomaly that can be isolated or accompanied by system anomalies such as cardiac, skeletal or urinary systems. Case 1, a four-month-old girl, was brought because of respiratory distress. Patient had polydactyly, syndactyly of right thumb, right mandibular hypoplasia and low-set dysmorphic ears. Lung x-ray and thorax computerized tomography (CT) were consistent with right pulmonary agenesis and butterfly vertebra was evident in the 7th thoracic level. Thoracic CT angiography revealed narrowing of the left main bronchus and esophagus due to compression of aorta, left pulmonary artery and right atrium. In bronchoscopy, narrowing due to compression at the carina level was seen and right main bronchus was not seen. In abdominal ultrasonography, right kidney placement anomaly (pelvic ectopia) was present and renal scintigraphy revealed fusion in both kidneys. With these findings, it was found that right pulmonary agenesis was accompanied by ipsilateral radial ray anomaly, renal anomaly, vertebral anomaly and hemifacial microsomia. Case 2, a fifteen-year-old male patient, was diagnosed as pulmonary agenesis via chest x-ray, pulmonary CT and bronchoscopy after a wheezing episode when he was 2 months old. Patient had no complaint except for exhaustion that is aggravated by exercise during last year. In physical examination, he had a mild scoliosis toward right, respiratory sounds were diminished on right hemithorax and heart sounds were heard on right side. Chest x-ray and thoracic CT were consistent with right lung agenesis. No abnormality was found in echocardiography and abdominal ultrasonography was normal. Accompanied cardiovascular anomalies, distortions of intrathoracic structures and recurrent infections are main factors that affect mortality and morbidity. Here, two cases with right lung agenesis, isolated and accompanied by multiple anomalies, were presented. (Jo­ur­nal of Cur­rent Pe­di­at­rics 2013; 11: 134-7)

We report a case of a 66-year-old man who was diagnosed with severe aortic regurgitation, moderate tricuspid regurgitation and chronic atrial fibrillation. Preoperative computed tomography showed left lung agenesis. We performed aortic valve replacement, tricuspid valve annuloplasty and right pulmonary vein isolation via a left thoracotomy. This approach provided an adequate field of view. [ABSTRACT FROM AUTHOR]

Pulmonary agenesis (PA) is a rare congenital anomaly, which may be unilateral or bilateral. Unilateral PA may be associated with nonspecific respiratory symptoms. We report the case of 5-month-old infant who presented a normal development until the age of 4 months when a respiratory infection caused an acute respiratory distress syndrome with a fatal outcome. The autopsy findings depicted the right lung agenesis without any other concomitant malformation. Although respiratory symptoms represent frequent complaints in pediatrics, the aim of this study is not only to draw attention to the unilateral pulmonary agenesis as a possible underlying malformation in children who present recurrent and severe respiratory symptoms, but also to report a case diagnosed at autopsy.

Background and Aim Congenital lung agenesis is extremely rare. The aim of this article is to evaluate the clinical diagnostic approach to congenital lung agenesis with a case report. Methods We described a 44-day-old male child with right pulmonary agenesis presented to us with severe respiratory distress. He was misdiagnosed as a case of foreign body bronchus at emergency room according chest X-ray. Right lung agenesis was confirmed by CT scan. Echocardiography showed dextrocardia, absence of right pulmonary artery and small atrial septal defect. Then we reviewed the related literature with Medline and Pubmed databases. Conclusion It is recommended that CT scan is the key diagnostic approach for lung agenesis and invasive diagnostic procedures and prophylactic surgery should not be done in asymptomatic cases. [ABSTRACT FROM AUTHOR]

Pulmonary agenesis is a very rare congenital anomaly characterized by the absence of pulmonary parenchyma and its vasculature. The diagnosis is usually during childhood. Herein, we report a case of incidental discover right pulmonary agenesis in adulthood male. A 30-year-old male presented with pre-operative medical evaluation for varicocele. There was no complaining from respiratory symptoms. He underwent plain chest X-ray and post-contrast CT scanning was performed using 64 multi-detector CT scanner. Chest Plain X-ray revealed cardiac and mediastinal shift to right side with hyper-inflated left lung crosses to right side. Multi-detector computed tomography examination revealed total absence of right lung with compensatory hyperinflation and increase volume of left lung. Hyper-inflated left lung extended to right hemithorax. Mediastinal structures including heart and great vessels were displaced to middle and lower parts of right hemithorax. Descending aorta located to anterior to thoracic vertebrae. Right pulmonary artery was absent. Right main bronchus was rudimentary. No detected other organ anomalies. No detected bony thoracic cage abnormalities. [ABSTRACT FROM AUTHOR]

Introduction: Lung agenesis is a rare disorder with a variable, but potentially very bad clinical course. It necessitates complex clinical management, especially in life-threatening situations. Case report: We describe a case of a 6-month-old girl with right lung agenesis who required venovenous extracorporeal membrane oxygenation (VV-ECMO) due to pneumonia complicated by exacerbated previously diagnosed left main bronchus stenosis. The stenosis was resolved by endobronchial intervention and X-ray-guided stent insertion, which enabled weaning from ECMO and was aimed at preventing such a life-threatening respiratory failure in the future. Unfortunately, even with the functional stent, the baby died 2 months post-procedure due to unresolvable bronchial spasms. Discussion: Despite high endobronchial stenting-related mortality in children, in cases where no effective pharmacological or surgical alternatives exist, stenting may be safely performed during VV-ECMO support and be a viable option to overcome critical respiratory failure caused by bronchial stenosis. [ABSTRACT FROM AUTHOR]

We report a case of a 10-year-old female patient who survived ring-sling complex without surgery. The patient had congenital wheezing from the neonatal period and was treated after a tentative diagnosis of infantile asthma. The patient suffered from allergy and was hospitalized several times due to severe wheezing, and when she was 22 months old, she was diagnosed with ring-sling complex. We used a segmental 4 mm internal diameter of the trachea for 3-dimensional computed tomography (3D-CT). Bronchial asthma is considered an exacerbating factor in infantile period and frequently required treatment with bronchodilator. After the age of 10, the patient had recurrent breathing difficulties during physical activity and during night time, and this condition was assessed to be related to the pressure from the blood vessel on the ring. We repeated the 3D-CT evaluation later and discovered that the internal diameter of the trachea had grown to 5 mm. Eventually, patient's breathing difficulties disappeared after the treatment of bronchial asthma and restriction of physical activities. Our patient remained in stable condition without undergoing any surgical procedures even after she passed the age of 10. [ABSTRACT FROM AUTHOR]

Background: Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. Methods: The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. Results: Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. Conclusion: Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. [ABSTRACT FROM AUTHOR]

The mammalian genome contains two ERK/MAP kinase genes, Mek1 and Mek2, which encode dual-specificity kinases responsible for ERK/MAP kinase activation. In order to define the function of the ERK/MAPK pathway in the lung development in mice, we performed tissue-specific deletions of Mek1 function on a Mek2 null background. Inactivation of both Mek genes in mesenchyme resulted in several phenotypes, including giant omphalocele, kyphosis, pulmonary hypoplasia, defective tracheal cartilage and death at birth. The absence of tracheal cartilage rings establishes the crucial role of intracellular signaling molecules in tracheal chondrogenesis and provides a putative mouse model for tracheomalacia. In vitro, the loss of Mek function in lung mesenchyme did not interfere with lung growth and branching, suggesting that both the reduced intrathoracic space due to the dysmorphic rib cage and the omphalocele impaired lung development in vivo. Conversely, Mek mutation in the respiratory epithelium caused lung agenesis, a phenotype resulting from the direct impact of the ERK/MAPK pathway on cell proliferation and survival. No tracheal epithelial cell differentiation occurred and no SOX2-positive progenitor cells were detected in mutants, implying a role for the ERK/MAPK pathway in trachea progenitor cell maintenance and differentiation. Moreover, these anomalies were phenocopied when the Erk1 and Erk2 genes were mutated in airway epithelium. Thus, the ERK/MAPK pathway is required for the integration of mesenchymal and epithelial signals essential for the development of the entire respiratory tract. [ABSTRACT FROM AUTHOR]

Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital aplasia of the uterus and the upper two thirds of the vagina with normal secondary sexual characteristics, ovaries, and a normal karyotype (46, XX). We report an extremely rare association of right lung aplasia, MRKH syndrome, and right renal agenesis with left pelvic kidney, which to the best of our knowledge is the first such association reported. [ABSTRACT FROM AUTHOR]

Congenital, Paediatric, Pulmonary artery sling, Lung agenesis, Computed tomographic imaging, Tracheal stenosis, Aorta, Aortopexy, Tracheostomy Keywords: Congenital; Paediatric; Pulmonary artery sling; Lung agenesis; Computed tomographic imaging; Tracheal stenosis; Aorta; Aortopexy; Tracheostomy EN Congenital Paediatric Pulmonary artery sling Lung agenesis Computed tomographic imaging Tracheal stenosis Aorta Aortopexy Tracheostomy 1298 1298 1 05/31/22 20220601 NES 220601 The combination of pulmonary artery sling, congenital tracheal stenosis and severe hypoplasia or agenesis of the right lung in an infant is a very challenging and life-threatening constellation of lesions. [Extracted from the article]

Copyright of Journal of Current Pediatrics / Guncel Pediatri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: The association of lung agenesis with esophageal atresia (EA) & tracheoesophageal fistula (TEF) is exceedingly rare with a lethal outcome. We describe two neonates with this association who underwent primary repair shortly after birth. One of these neonates also had gross hydrocephalus, bilateral microtia and right thumb deformity. The goal in the management of these patients is early protection and preservation of respiratory units which is best accomplished by primary repair. [Copyright &y& Elsevier]

Background: Fetal unilateral lung agenesis, complicated with cardiac shifting, is a rare anomaly, the diagnosis of which remains a challenge for many sonographers in routine screening programs. The present study describes a systematic approach for the diagnosis of fetal unilateral lung agenesis and cardiac malpositions in routine prenatal screening. Methods: A total of 18 cases of fetal unilateral lung agenesis complicated with cardiac malposition were reviewed. A systematic method was proposed to identify the fetal left side and right side according to the fetal head position and posture by acquiring a long axis and transverse view of the fetus. Fetal unilateral lung agenesis was diagnosed by evaluation of the ipsilateral pulmonary artery. The diagnosis was confirmed by postnatal echocardiography, digital radiology, and computed tomography after birth or by autopsy findings. Results: The left-sided fetal heart with the cardiac apex rotating to the left and posterior were confirmed in all 7 left lung agenesis cases, while the rightward shifting of the fetal heart together with the cardiac axis deviating to the right were confirmed in all 11 cases of right lung agenesis. The disappearance of the ipsilateral pulmonary artery was confirmed in all 18 cases of unilateral lung agenesis. Cardiac anomalies were present in a total of 7 of the 18 cases of lung agenesis with 4 of 7 in cases of left lung agenesis and 3 of 11 in cases of right agenesis. Conclusions: The systematic approach introduced in the current report is helpful in the diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. The information provided by this study may be helpful to better understand unilateral lung agenesis anatomically and to facilitate its potential examination. [ABSTRACT FROM AUTHOR]

We report the association of aphallia, with imperforate anus, bilateral renal dysplasia and complete right lung agenesis in a fetus born of non-consanguineous parents. No maternal diabetes was present. The multiple mesodermal anomalies present in this male fetus, with a severe form of Uro-Rectal-Septum Malformation Sequence associated with unilateral lung agenesis, and rib segmentation anomaly is consistent with an extended defect of blastogenesis, with apparent common timing of the malformations around the 5th to 7th weeks of gestation. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: Single-lung patients are uncommon. Case reports suggest that these patients have significant morbidity and mortality risks because of associated anomalies, airway obstruction as well as decreased pulmonary reserve. This study was designed to review morbidity and mortality of single-lung patients. Methods: A retrospective review of single-lung patients admitted to our hospital from January 1988 to June 2007. Results: Twelve single-lung patients were treated in our hospital with mean follow-up of 22.9 months. Six congenital lung aplasia patients presented as neonates, with 2 diagnosed antenatally. Of 4 patients with respiratory distress, 3 required surgical interventions to correct airway symptoms. Three patients died before 9 months of age because of respiratory failure, sepsis, or cardiac arrest. The remaining survivors have minimal respiratory distress. There were 6 pneumonectomy patients as follows: 5 for malignancies and 1 for bronchiectasis. There were 2 deaths from recurrent disease. Four patients had respiratory symptoms with one patient requiring tissue expander insertion for the correction of airway torsion from mediastinal shift. Conclusions: The morbidity and mortality of infant single-lung patients are significant. Respiratory distress from decreased pulmonary reserve must be distinguished from airway obstruction because of mediastinal shift. Bronchoscopic assessment was invaluable to the diagnosis and management of these patients. [Copyright &y& Elsevier]

The combination of right lung agenesis and left pulmonary artery (LPA) sling is a rare entity that has been described only in the pediatric population. Cross-sectional imaging modalities such as magnetic resonance imaging (MRI) and computed tomography (CT) have an advantage over echocardiography and pulmonary angiography in demonstrating the anomalous left pulmonary artery, particularly in the presence of coexisting lung agenesis, as exemplified in this case. We report the first case of this rare entity in an adult. It is important to be aware that this abnormality, though rare, can present even in adulthood, and therefore close attention should be paid to the course of the pulmonary artery to ensure detection of a sling in association with lung agenesis. [ABSTRACT FROM AUTHOR]

Here we report a neonatal case of total anomalous pulmonary venous connection with left lung agenesis. Diagnostic imaging demonstrated that the left pulmonary veins were totally absent and the right pulmonary veins connected with the common pulmonary chamber. Drainage from the common pulmonary venous chamber entered the persistent left suerior vena cava. In addition, it revealed complete absence of the left main bronchus and left lung vessels. The neonate successfully underwent surgical repair 18 days after birth. [ABSTRACT FROM PUBLISHER]