Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report.
Kantisa SirianansopaPharsai PrasertsanKanokpan RuangnapaKantara SaelimPhawin Kor-AnantakulPublished in: Respirology case reports (2023)
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.
Keyphrases
- respiratory failure
- pulmonary hypertension
- extracorporeal membrane oxygenation
- respiratory syncytial virus
- acute respiratory distress syndrome
- pulmonary artery
- mechanical ventilation
- pulmonary arterial hypertension
- blood pressure
- single cell
- public health
- mental health
- intensive care unit
- inferior vena cava
- ultrasound guided
- high glucose
- type diabetes
- weight loss
- adipose tissue
- coronary artery
- gene expression
- metabolic syndrome
- case report
- pulmonary embolism