Insights of a Challenging Case: Lymphangioleiomyomatosis

Abstract

Lymphangioleiomyomatosis (LAM) is progressive cystic lung disease that affects premenopausal women with the involvement of many organs of the body including the lungs. It commonly presents with dyspnea and cough, but its clinical course may be complicated by pleural effusions and recurrent pneumothorax. LAM is strongly associated with tuberous sclerosis complex (TSC) and may yield other clinically significant findings such as renal angiomyolipomas (AMLs) and lymphadenopathy. Investigations including radiological imaging, serum testing, and biopsies should be carefully considered when making a diagnosis as symptoms can be mistaken for other lung pathologies. The current mainstay of treatment is immunosuppressants and supportive therapy with bronchodilators and oxygen, while lung transplant is performed for end-stage disease. This case report details an unusual presentation of a 20-year-old female diagnosed with sporadic LAM following a previous pulmonary tuberculosis infection. She had a history of recurrent bilateral pneumothorax following initiation of antitubercular treatment (ATT). Diagnosis was made on the basis of clinical presentation and computed tomography (CT) scans; in addition, histopathological examination of the cervical lymph nodes revealed coexisting extrapulmonary tuberculosis. A brief literature review of the relevant topics is also discussed in this report.