Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report.
Respirol Case Rep
; 11(2): e01089, 2023 Feb.
Article
in English
| MEDLINE | ID: covidwho-2303898
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_001451.2c.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.
Full text:
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Collection:
International databases
Database:
MEDLINE
Type of study:
Case report
/
Diagnostic study
/
Prognostic study
Topics:
Variants
Language:
English
Journal:
Respirol Case Rep
Year:
2023
Document Type:
Article
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