Alveolar capillary dysplasia

About: Alveolar capillary dysplasia is a research topic. Over the lifetime, 219 publications have been published within this topic receiving 5569 citations. The topic is also known as: Alveolar capillary dysplasia with misalignment of pulmonary veins.

Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

Abstract: Summary: Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome: Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome.Key-words: Pulmonary agenesis - Pulmonary sling anomaly - Down syndromeINTRODUCTIONDown Syndrome (DS) is the most common trisomy compatible with life. A spectrum of upper and lower pulmonary malformations and complications are seen in children with DS including subglottic stenosis, laryngomalacia, tracheobronchomalacia, tracheal bronchus, obstructive sleep apnea, subpleural lung cysts, pulmonary edema, pulmonary hypertension, chronic pulmonary hemorrhage, interstitial lung disease, alveolar capillary dysplasia and pulmonary hypoplasia (13, 14). This report presents a patient with DS and extremely rare pulmonary agenesis and pulmonary sling anomaly.CASE REPORTA female infant was bom by Cesarean Section at 38 weeks of gestation in the rural area of Turkey with a birth weight of 2190 grams. The Apgar scores were 7 and 8 at 1 and 5 min, respectively. On physical examination a flat face with hypertelorism, depressed nasal bridge and bilateral simian crease were noted. Mild intercostal retractions were present and respiratory rate was 64 per minute. She was referred to neonatal intensive care unit due to respiratory distress at 2 hours of life. Oxygen saturation was 82-87% by the same time. The infant re- ceived supplemental oxygen, chest X-ray showed right pulmonary white-out (Fig. 1). Echocardiography on the first day of life showed cardiac dextroposition, atrial septal defect and patent ductus arteriosus (2.2 mm diameter). Complete blood count, peripheral blood smear, C-reactive protein, blood culture were performed to exclude sepsis and empiric ampicillin and gentamicin treatments were started. Antibiotics were stopped four days after the initiation since blood culture and acute phase reactants were negative. Chromosome analysis on GTG-banded metaphases from peripheral blood lymphocytes revealed a classical 47,XY,+21 karyotype. Thyroid stimulating hormone level was 41.4 mlU/L and free thyroxine level was 7.1 nmol/L indicating primary hypothyroidism. L-thyroxine sodium treatment was started at 25 mcg/day dose orally on ninth day of life. Thoracic computerized tomography revealed the absence of right pulmonary artery, right main bronchus and right lung. Mediastinum was shifted to the right side. There was a patent ductus arteriosus (PDA) and a left pulmonary artery sling anomaly (Fig. 2). On day 7 the infant deteriorated and respiratory distress was prominent. The infant was put on continuous peak airway pressure. Pneumonic infiltrations and hazy appearance were present on repeated chest X-ray. Antibiotic treatment was changed to meropenem, vancomycin, amikacin and fluconazole. Acute phase reactants were elevated however blood culture was negative. Repeated echocardiogram showed moderate pulmonary hypertension with the presence of large PDA. Digoxin, captopril and fiirosemide treatment was started for left ventricular heart failure. Also intravenous iloprost treatment was started with a dose of 3ng/kg/min for pulmonary hypertension. Surgical ligation of ductus arteriosus was performed on day 11. Despite appropriate ventilation and medical therapy the infant had cardiopulmonary decompensation and she died on day 14.DISCUSSIONUnilateral pulmonary agenesis is a rare congenital anomaly; with an estimated incidence at 1 per 15,000 autopsies (17). The incidence in neonates is not known. It is defined as complete absence of the lung, bronchus and vascular supply to the affected side. The pathogenesis is explained by an interference with the embryological development during the fourth week of fetal life ( 11 ). …

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia : alveolar capillary dysplasia case report

Abstract: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung that affect both acinar structure and the intrinsic pulmonary vasculature. We report prenatal and postnatal imaging with histopathological findings of this rare condition. We, first, describe MR imaging features and discuss its role in prenatal imaging.

On the question of interstitial lung diseases in children: diffuse disorders of growth and development of the lungs

Abstract: The literature review provides current information on risk factors, clinical features, advanced diagnostic capabilities, prognosis diffuse disorders of growth and development of lung like interstitial lung disease specific to early childhood. Diffuse disorders of growth and development in children assigned to interstitial disease, due to the fact that along with anatomical defects of the lung, there is a significant increase in the interstitial tissue. Diffuse lung development disorders - acinar dysplasia, congenital alveolar dysplasia, and alveolar capillary dysplasia with misalignment of pulmonary veins is a rare condition, clinically manifested in the first hours of life, severe RDS infants, have a poor prognosis. Early diagnosis is essential for determining the management plan and prognosis of the disease. Diffuse lung disorders of growth occur in different states: bronchopulmonary dysplasia, pulmonary pathology in the neonatal period as in full-term baby so, chromosomal anomalies (trisomy 21 chromosome) and congenital heart diseases at chromosomal anomalies, and without them, congenital defects of other organs. Growth disorders formed as prenatally and postnatally and reflective of abnormalities of alveolarization. Pathology and radiology interpretation often noted the presence of emphysematous changes in these cases. The severity of the clinical course, complications, prognosis can vary in different forms. Lung growth disorders are risk factors for recurrent respiratory diseases and contribute to their chronic course.

A Case of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV): The Importance of Early Genetic Testing:

Abstract: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, lethal condition caused by irregular pulmonary vascular maturation. Almost all cases present in the newbor...

A Long-Term Survivor With Alveolar Capillary Dysplasia.

Abstract: A patient with alveolar capillary dysplasia has survived more than 56 months with medical therapy. Intrauterine exposure to metformin potentially modified the severity of disease. In combination with other agents, endothelin receptor antagonists and amlodipine have been key medications in lowering pulmonary arterial pressure and managing right heart failure. (Level of Difficulty: Beginner.)