Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report

Abstract

Abstract 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 FOXF1 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.

Keywords

• alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV)
• extracorporeal membrane oxygenation (ECMO)
• FOXF1 gene
• respiratory syncytial virus pneumonia
• unexplained pulmonary hypertension