[Pulmonary alveolar microlithiasis: Report of one case]

Area of Science:

• Pulmonology
• Rare Diseases
• Genetics

Background:

• Pulmonary alveolar microlithiasis (PAM) is an ultra-rare interstitial lung disease.
• Characterized by diffuse intra-alveolar accumulation of calcified microliths.
• Caused by mutations in the SLC34A2 gene, affecting alveolar surface transport.

Observation:

• A 39-year-old female presented with worsening shortness of breath.
• Imaging revealed ground-glass opacities on chest X-ray.
• High-resolution CT scan demonstrated numerous calcified lung micronodules, consistent with the "sandstorm" pattern.

Findings:

• Surgical lung biopsy confirmed the diagnosis of pulmonary alveolar microlithiasis.
• Microliths are microscopic, calcified, spherical deposits within the lung alveoli.
• The disease progression is typically slow, leading to pulmonary fibrosis and respiratory failure.

Implications:

• Early diagnosis is crucial for managing progressive lung disease.
• Understanding the genetic basis may lead to targeted therapies.
• This case underscores the importance of characteristic imaging findings in diagnosing rare lung conditions.