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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.

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.

Tracheoesophageal fistulae (TEF) commonly occur as part of the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal, and limb abnormalities (VACTERL) association. However, pulmonary agenesis is not typically seen with TEF. We report the anesthetic management of a TEF repair in a 33-week-old, 1.6-kg, monochorionic diamniotic twin with right lung agenesis, intrauterine growth restriction, and cardiac dextroposition. Due to the unique position of the heart, the patient periodically lost complete cardiac output during the exposure and repair of the esophagus.

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.

Pulmonary agenesis is an extremely rare congenital anomaly with an incidence varying between 1/10,000 and 12,000 births. It is defined as complete absence of bronchus, parenchyma, and vessels which may vary in degrees of severity. A variety of congenital malformations of skeletal, cardiovascular, genitourinary, and gastrointestinal systems are associated which is more commonly seen with the right-sided agenesis. It usually presents with respiratory distress and misdiagnosed as pneumonia. Herein, we are reporting a case of right lung agenesis in a 2-month-old infant who presented with dyspnea, fever, and cough since birth and were provisionally diagnosed and managed as pneumonia. The true diagnosis came to light after a computed tomography study of thorax was done to explore the cause of white-out right hemithorax seen on chest radiograph. The patient was conservatively managed and is asymptomatic after 10 months of follow-up. In this case report, we would like to highlight the importance of computerized tomography in evaluating such confounding scenarios.

Back ground Lung agenesis is a rare congenital anomaly. The main etiology of the disease is unknown whereas genetic, iatrogenic and viral factors as well as vitamin A deficiency during early pregnancy may result in developmental failure of primitive lung bud causing unilateral pulmonary agenesis. Affected patients usually present with variable respiratory symptoms and recurrent chest infection at any age. Plain film demonstrates opaque unilateral lung while chest CT scan can definitely diagnosis the disease. The anomaly has three types. Type I is pulmonary agenesis, type II is called pulmonary aplasia and type III is pulmonary hypoplasia. Cases’ presentation Six patients with main complaint of dyspnea underwent contrast enhanced chest CT in radiology department of French Medical Institute for Mothers and children, Kabul and were diagnosed lung agenesis. Three patients were categorized as type II pulmonary agenesis (aplasia). Two patients, three months old boy and a seven year- old girl demonstrated right lung aplasia. Another patient boy of eighteen years old presented with left lung aplasia. Two boys of four and seven months of age were classified as type I pulmonary agenesis (agenesis). A boy of one year old was diagnosed pulmonary agenesis type III, right lung hypoplasia. Conclusion Six patients were diagnosed with pulmonary agenesis by Chest CT scan. The clinicians should consider possibility of congenital pulmonary agenesis in dyspneic patients with opaque unilateral hemithorax in plain film.

We managed a case of extrinsic airway compression by adjacent structures in a 1-month-old boy with right lung agenesis and dextro-rotated heart using anterior aortopexy and near total thymectomy.

Unilateral lung agenesis is a relatively rare congenital anomaly with a reported incidence of 1 in 15 000 births. It is frequently associated with other congenital malformations. Some of the sequelae of lung agenesis are potentially life-threatening. Here, we report a case of left lung agenesis in association with hiatal hernia and atrioventricular septal defect, a rare combination of anomalies which have not been described previously in the literature.

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.

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.

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.

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.

A neonate with right lung agenesis presenting with respiratory distress is described. The unusual radiological features were contralateral mediastinal shift (in contrast to expected ipsilateral shift) and diaphragmatic eventration on the affected side. Mediastinal shift to the opposite side was due to intrathoracic hepatic herniation under a high placed eventrated diaphragm. Both these features have not been reported in association with lung agenesis to date. The authors have discussed other causes of respiratory distress in newborns that can cause mediastinal shift and have urged a high degree of clinical suspicion to pick up the cases with lung agenesis. The newer diagnostic modalities and the causes of mortality in neonates with this anomaly have also been highlighted.

We report a 1-year-old child born with agenesis of the right lung who sustained an episode of acute respiratory failure related to a postpneumonectomy-like syndrome, with severe mediastinal shift and subsequent stretching and stenosis of the left main bronchus. The insertion of an expandable prosthesis in the right empty pleural space markedly improved the patient's clinical condition.

Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar agenesis of the left upper lung in a three month old girl causing recurrent chest infection is presented.J Nepal Paediatr Soc 2015;35(2):175-176

Pulmonary agenesis is a rare condition with complete absence of bronchus, lung tissue and vessels. A variety of cardiovascular defects are present in upto 1/3 rd cases of pulmonary agenesis. However, a combination of dextrocardia and hypertrophic cardiomyopathy in association with pulmonary agenesis is not known. Here we report the first case of a neonate presenting with respiratory distress since birth, diagnosed to have hypertrophic cardiomyopathy in association with dextrocardia, multiple cardiac defects and right lung agenesis. Association of heart disease with lung agenesis adversely affects the course and outcome making them a highly lethal association

A 30-year-old man was diagnosed to have right lung agenesis and left pulmonary bronchiectasis after diagnostic workup for dyspnea developed during hemodialysis due to CRF. We report this patient as case report because he had a longer survival and no associated systemic malformation though right-sided lung agenesis contrary to data in the literature. © 2005 Elsevier Ltd. All rights reserved.

WOS: 000348843600019, PubMed ID: 25487726, LACHT syndrome, Lung Agenesis, Congenital Heart defects, and Thumb anomalies, (Mardini-Nyhan Association OMIM #601612) is a rare condition characterized by unilateral or bilateral lung agenesis, complex cardiac defects, especially anomalous pulmonary venous return, and thumb anomalies. Based on previous cases, its inheritance pattern seems to be autosomal recessive. In 1985, the syndrome was firstly described by Mardini and Nyhan in four patients from unrelated families. Until now, a total of eight patients have been reported in the literature. Molecular cause of the disease is still unknown. Here, we report on a patient with LACHT syndrome diagnosed by clinical findings. In this study, we present a 4.5-month-old female infant with right lung agenesis and inguinal hernia, in which ovaries are revealed on ultrasonography. The infant was born to consanguineous parents following a 38th week of gestation, with a birth weight of 2,800g. Overall development was consistent with age; she had thumb abnormalities. Echocardiography showed peripheral pulmonary stenosis. The girl was diagnosed as LACHT syndrome based on the findings of unilateral lung agenesis, thumb anomalies, and peripheral pulmonary stenosis. LACHT syndrome should be considered in the differential diagnosis of patients with unilateral or bilateral lung agenesis. Here, we report on the 9th case in the literature. The consanguinity of the parents supports autosomal inheritance as the genetic basis of LACHT syndrome. (c) 2014 Wiley Periodicals, Inc.

The diagnostic, developmental, and surgical aspects of left pulmonary artery sling associated with right lung agenesis in 3 patients are described. Cardiac catheterization may be avoided by the combined use of echocardiography and magnetic resonance imaging and/or computed tomography.

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 the18 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.

Unilateral Absence of Left Pulmonary Artery, Left Main Bronchus and Left Lung Our patient is a 2 year old girl, born through in vitro fertilization(IVF), who immediately after birth experienced episodes of desaturation. Screening transthoracic echocardiography was done urgently and showed absent left pulmonary artery (LPA). A computed tomography (CT) scan and angiography of the chest confirmed the absence of LPA, in addition to the absence of the left main bronchus and left lung agenesis.

There are few case reports regarding patients with right lung agenesis living to old age because of both severe mediastinal and cardiac displacements. We report a 61-year-old woman with right pulmonary agenesis complicated by a transient ischemic attack that was evaluated by a three-dimensional reconstruction of helical computed tomography and an echocardiography. This patient was able to survive until old age because she had no critical anomalies in other organs including the heart. A mitral valve prolapse was detected by a two-dimensional echocardiography and we treated her with anti-platelet aggregation therapy for the prevention of recurrent stroke.

This paper describes the clinical and radiological findings in three infants with agenesis of a single lung. In the two cases of right lung agenesis, severe gastro-oesophageal reflux was present. In these two cases, contrast-medium-enhanced computed tomography (CT) excluded vascular compression of major airways in one patient but demonstrated mild compression in the other. Conventional CT in the case of left lung agenesis demonstrated posterior herniation of the contralateral right lung.

Unilateral pulmonary agenesis is extremely rare and the diagnosis can be made by a number of conventional methods. We report two cases: a 16-day-old girl and a 14-year-old girl presenting with tachypnoea in whom three-dimensional reconstruction of helical chest computed tomography was used to demonstrate the complete absence of the carina, right main bronchus and right lung. To our knowledge, these are the first cases of right lung agenesis diagnosed by this method.

Congenital heart disease combined with lung agenesis is extremely rare. We report a case of a 5-year-old female with a ventricular septal defect (VSD) and left lung agenesis with severe pulmonary hypertension who underwent successful closure of the VSD.

We thank Dr. Saeed and his group for their interest in our case and their thoughtful comments. We do agree about the discrepancy between the case we have presented and the chest X-ray findings illustrated by Dr. Saeed and his group. This happened because we uploaded an incorrect file, which was overlooked by us. We do apologies for that and we include the correct chest X-ray (Fig. 1) that shows the classical findings seen in lung agenesis. Finally, we believe that dextroposition is a cardiac displacement that consists of a right ward swing along the frontal plane caused by extra cardiac forces, while true dextrocardia is a developmental error. Figure 1 Chest X-ray showing hyperopacity of the right hemithorax with elevated right hemidiaphragm, hyperinflation of the left lung and right side deviation of the trachea and mediastinum. Also, there is a left side pneumonic infiltrates.

OBJECTIVE: The purpose of this study was to evaluate the spectrum of airway and vascular anomalies in agenesis of the right lung and to assess the role of imaging in defining the anatomy. CONCLUSION: Symptomatic children with right lung agenesis often have anatomic distortion of the airway with vascular compression, and occasionally they have intrinsic airway stenosis. MR imaging most accurately defines the entire spectrum of airway and vascular anatomic abnormalities. Precise delineation of the anatomy is essential in patient management and surgical planning.

Methods A 26 year-old lady presented with episodic breathlessness, chest tightness, recurrent nasal obstruction and excessive sneezing, mainly during change of season along with opacity of the right hemithorax on chest x-ray. Further detailed work-up including spirometry, high resolution CT scan of the thorax and fibreoptic bronchoscopy confirmed complete right lung agenesis in patients with bronchial asthma and allergic rhinitis.

Pulmonary agenesis, defined as complete absence of bronchus, parenchyma, and vessels is a very rare condition. Herein, we report a 4-month-old infant who presented with fever, cough, and respiratory distress and was misdiagnosed in a peripheral hospital as a case of pneumonia. The child was, later diagnosed as having right lung agenesis with dextrocardia.

A case of tracheal compression by a normal aorta deviated to the right with a shift of the heart due to right lung agenesis is presented. The condition was diagnosed by chest fluoroscopy and corrected surgically. The increased mortality associated with right versus left lung agenesis may be due to tracheal compression by a normal aorta in some cases.

A case is described with clinical, roentgenographic and anatomic features of pseudovascular ring not previously reported in the literature. Early neonatal proof of a congenitally absent right lung did not explain the infant's respiratory distress, and the suspected tracheal compression could not be verified before her death in the 11th week. Postmortem examination disclosed that shifting of the heart into the right thoracic cavity had caused a patent ductus arteriosus to impinge on the distal trachea. The aortic arch was on the left as is normal. Although mimicking the signs and symptoms of a true vascular ring, this arrangement did not actually encircle the mediastinal structures.It is postulated that awareness of this entity will permit its early diagnosis in some future case, thus initiating a lifesaving ablation of the constricting ductus arteriosus.