[Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age]

Area of Science:

• Pediatric Pulmonology
• Cardiovascular Research
• Rare Diseases

Background:

• Pediatric pulmonary vascular disease is complex and varied, differing from adult forms due to unique comorbidities and genetic factors.
• Interstitial lung diseases can manifest as pediatric pulmonary vascular disease.
• Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal condition characterized by abnormal lung tissue formation and impaired gas exchange.

Observation:

• A 5-month-old infant presented with persistent hypoxemia, initially suspected to have congenital heart disease.
• Diagnostic workup included a lung biopsy to investigate the underlying cause of hypoxemia.

Findings:

• The patient was diagnosed with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV).
• This diagnosis confirmed a severe, congenital lung malformation leading to impaired gas diffusion.

Implications:

• Early and accurate diagnosis of rare pediatric lung diseases like ACD/MPV is critical, despite diagnostic challenges.
• Understanding the specific pathophysiology of pediatric pulmonary vascular diseases is essential for potential future therapeutic strategies.
• This case highlights the importance of considering congenital lung malformations in infants with unexplained hypoxemia.