Pulmonary Alveolar Microlithiasis, a Rare Cause of Progressive Restrictive Lung Disease

Pulmonary alveolar microlithiasis is an autosomal recessive disease caused by a mutation in the SLC34A2 gene often misdiagnosed as pulmonary tuberculosis due to nonspecific clinical features and radiological overlap. Diagnosis is confirmed on a histopathological basis; however, no definitive treatment strategy exists. A 20-year-old female presented to us with progressive shortness of breath for 1 year. Physical examination revealed clubbing of fingers with diffuse lung crepitations. Imaging revealed a 'sandstorm-like' appearance and diffuse reticulonodular pattern. Transbronchial biopsy confirmed pulmonary alveolar microlithiasis. This case underscores the importance of identifying characteristic radiological and histopathological features of pulmonary alveolar microlithiasis to avoid misdiagnosis and timely management of the disease.