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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
PubMed

Insights

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.

Keywords:
Neonatal and paediatric intensive carePulmonary hypertension

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