Rodenko Peter N, Elefteratos Josh, Rodenko Emily L, Herrell Colton, Townsend Timothy
Medicine, St. George's University School of Medicine, St. George, GRD.
Internal Medicine, St. George's University School of Medicine, St. George, GRD.
Cureus. 2025 Jul 5;17(7):e87346. doi: 10.7759/cureus.87346. eCollection 2025 Jul.
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.
淋巴管平滑肌瘤病（LAM）是一种罕见的、进行性的囊性肺部疾病，主要影响育龄女性。我们报告一例35岁的白种女性病例，该患者有季节性鼻过敏史，因急性发作的呼吸急促和慢性干咳就诊于急诊科。此次急性发作与一个月前因自发性气胸住院的情况极为相似，当时通过猪尾导管进行了治疗。在此次入院期间，体格检查发现右上肺野和肺底部呼吸音消失。胸部X线证实右侧气胸复发，在猪尾导管置入失败后插入了胸管。对比增强胸部CT显示多个离散的薄壁囊性病变弥漫分布于全肺，支持LAM而非肺气肿的诊断。进行了机械性胸膜固定术和胸腔镜活检，病理证实为LAM。由于LAM发病率低且症状往往不具特异性，其经常被漏诊。气胸可能是常见的早期表现，且通常是首个临床线索，本病例即是如此。高分辨率CT成像通常显示全肺均匀的薄壁囊肿。本病例中对比增强CT也显示了类似结果。西罗莫司，一种雷帕霉素靶蛋白（mTOR）抑制剂，在门诊开始使用，它是稳定LAM患者肺功能和减少疾病进展的标准治疗方法。本报告强调了对于出现自发性气胸的年轻女性考虑LAM的重要性。LAM的早期检测可能带来更有利的结果，管理重点在于保护肺功能、预防并发症以及对患者进行教育，因为新兴的分子疗法进一步优化了治疗策略。
