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Alveolar capillary dysplasia complicated by subglottic stenosis
Kotaro Nagamoto1, Hidehiko Maruyama2, Akira Ishuguro1
1Center for Postgraduate, Education and Training, National Center for Child Health and Development, Tokyo, Japan.
BMJ Case Reports
|September 12, 2024
Summary
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a severe lung disease. This case highlights previously unknown upper airway stenosis in infants with ACDMPV, linked to a 16q24.1 deletion.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
- Thoracic Imaging
Background:
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare interstitial lung disease.
- ACDMPV causes severe respiratory impairment and pulmonary hypertension from birth.
- Associated anomalies in cardiovascular, gastrointestinal, and genitourinary systems are known, but upper airway involvement is poorly understood.
Observation:
- A neonate diagnosed with ACDMPV presented with hypoplastic left heart syndrome.
- Respiratory distress worsened within hours of birth, necessitating intubation.
- Subglottic stenosis was identified during intubation.
Findings:
- Autopsy CT imaging revealed bilateral main bronchial stenosis.
- Genetic analysis identified a 531 kb deletion in chromosome 16q24.1, encompassing the FOXF1 gene.
- This deletion is associated with ACDMPV and the observed airway abnormalities.
Implications:
- This case expands the known spectrum of ACDMPV-associated anomalies to include significant upper airway stenosis.
- Highlights the importance of considering upper airway evaluation in ACDMPV patients.
- The identified 16q24.1 deletion provides a genetic marker for ACDMPV and associated phenotypes.
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