Unusual Presentation of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins in a Child with Respiratory Syncytial Virus Pneumonia: A Case Report

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital diffuse lung disorder, with a fatal course during the neonatal period. We describe an 18-month-old boy who presented with respiratory syncytial virus pneumonia and pulmonary hypertensive crisis requiring extracorporeal membrane oxygenation. Exome sequencing revealed a frameshift variant, NM_001451.2:c.995_998delACTC, inherited from his asymptomatic mother. Genetic findings were compatible with histopathology findings from a lung biopsy. Based on the disease course, histopathology, and outcomes of this case, we believe ACDMPV should be considered a possibility in an infant presenting with hypoxemic respiratory failure, resistant pulmonary hypertension, and vasodilator-induced pulmonary edema. Genetic testing can contribute to the diagnostic process.