Sporadic Lymphangioleiomyomatosis in a 35-Year-Old Female Patient: A Rare Cause of Spontaneous Pneumothorax.

Lymphangioleiomyomatosis (LAM) is a rare, progressive cystic lung disease that primarily affects women of reproductive age. We report a case of a 35-year-old Caucasian female with a history of seasonal nasal allergies who presented to the emergency department with acute-onset shortness of breath and a chronic dry cough. The acute episode closely resembled a prior hospitalization one month earlier for spontaneous pneumothorax, which had been managed with a pigtail catheter. During this admission, physical exam revealed absent breath sounds in the right upper lung fields and base. Chest X-ray confirmed a recurrence of her right-sided pneumothorax, and a chest tube was inserted after unsuccessful pigtail catheter placement. Contrast-enhanced chest CT showed multiple, discrete, thin-walled cystic lesions diffusely distributed throughout the lungs, supporting a diagnosis of LAM over emphysema. Mechanical pleurodesis and thoracoscopic biopsy were performed, with pathology confirming LAM. LAM is frequently underdiagnosed due to its low incidence and often nonspecific symptoms. Pneumothorax can be a common early manifestation and is often the first clinical clue, as in this case. High-resolution CT imaging typically shows homogeneous, thin-walled cysts throughout the lungs. Contrast-enhanced CT displayed similar findings in this case. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, was initiated in the outpatient setting, and it is the standard of care for stabilizing lung function and reducing disease progression in patients afflicted by LAM. This report emphasizes the importance of considering LAM in young women presenting with spontaneous pneumothorax. Early detection of LAM may lead to more favorable outcomes, with management focused on preserving lung function, preventing complications, and educating patients, as emerging molecular therapies further refine treatment strategies.