Spontaneous pneumomediastinum and subcutaneous emphysema secondary to pulmonary alveolar microlithiasis.

ABSTRACT

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by intraalveolar accumulation of microliths. PAM is described as the formation and accumulation of calcium phosphate microliths in the alveoli after mutations in the SLC34A2 gene. The patients may be asymptomatic or present with heterogeneous signs such as dyspnea, cough, sputum, weakness, chest pain and hemoptysis. Recurrent pneumothoraces may occur over the course of the disease in advanced cases. Her, it was aimed to report a case of a 40-year-old female presenting with chest pain, sore throat, cough and green sputum for the past two months. Chest radiography and computed tomography showed pneumomediastinum and subcutaneous emphysema which have not been reported in previous studies due to PAM. Bronchoscopy with bronchoalveolar lavage (BAL) and mucosal biopsy were done after pneumomediastinum had cleared. BAL result was concordant with pulmonary alveolar microlithiasis. Diagnosis can be made with computed tomography but may necessitate histopathological verification for definitive diagnosis.