Abstract
Background:
Pulmonary lymphangioleiomyomatosis is a rare multisystem disease which is characterised by the development of multiple cysts in the lung parenchyma. It is usually associated with tuberous sclerosis complex, and is frequently found in young females. In our case report, we discuss the disease in a young male, presenting for the first time with spontaneous pneumothorax.
Case presentation:
A 19-year-old previously healthy male presented to the emergency department with a one week history of breathlessness and a non-productive cough. Initial assessment revealed tachypnea and decreased breath sounds on the right side of the chest, prompting suspicion of pneumothorax. The chest x-ray confirmed the diagnosis, and emergency insertion of an intercostal drainage tube was performed. Computed tomography of the thorax showed multiple, bilateral, cystic, thin walled lesions and a moderate pneumothorax on the right side. A lung biopsy was performed and the histopathology revealed features consistent with lymphangioleiomyomatosis (LAM). The patient was stabilized and discharged with follow-up plans.
Conclusions:
LAM is a rare multisystem disease that mostly affects young females. Although uncommon in males, this case emphasizes the importance of considering LAM as one of the causes of pneumothorax in young adult male patients and highlights the role of lung biopsy for definitive diagnosis when initial workup is inconclusive.