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Diagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder
Fábia Cruz1, Diogo Batista2, Cátia Pereira2
1Internal Medicine Service, Hospital Amato Lusitano, ULSCB, Castelo Branco, Portugal.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a genetic lung disorder that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterized by slowly progressive respiratory failure over decades. Treatment remains supportive. A 62-year-old woman presented in the emergency department with dyspnoea and fatigue. On physical examination she had crackles on pulmonary auscultation and digital clubbing. A CT scan of the chest showed multiple high-density areas throughout the lung parenchyma, suggesting the presence of alveolar microlithiasis. This CT finding is the typical radiological presentation of PAM, while the hallmark presentation is clinical-radiological dissociation.
Learning Points:
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disorder resulting in accumulation of calcium phosphate deposits in the alveoli.The typical radiological presentation of PAM is the classic 'sandstorm' appearance in the lung.The key to diagnosis of this disease is clinical-radiological dissociation.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease causing calcium deposits in the lungs. Diagnosis relies on recognizing clinical-radiological dissociation, despite typical "sandstorm" imaging findings.
Area of Science:
- Pulmonary Medicine
- Radiology
- Genetics
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disorder.
- Characterized by calcium phosphate deposits in lung alveoli.
- Typically presents with slowly progressive respiratory failure.
Purpose of the Study:
- To highlight the diagnostic features of Pulmonary alveolar microlithiasis.
- To emphasize the importance of clinical-radiological dissociation in diagnosing PAM.
- To present a case of PAM diagnosed via CT scan.
Main Methods:
- Case presentation of a 62-year-old woman with dyspnea and fatigue.
- Physical examination revealing crackles and digital clubbing.
- Chest CT scan demonstrating diffuse high-density areas in the lung parenchyma.
Main Results:
- CT scan findings suggestive of alveolar microlithiasis.
- The patient presented with symptoms of respiratory distress.
- Radiological findings consistent with the 'sandstorm' appearance.
Conclusions:
- Pulmonary alveolar microlithiasis is a rare genetic condition.
- The classic radiological presentation is a 'sandstorm' lung appearance.
- Clinical-radiological dissociation is key for accurate PAM diagnosis.
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