Rare pulmonary lymphangioleiomyomatosis complicated with tuberculosis: a Case Report and literature review

罕见肺淋巴管肌瘤病合并结核病:病例报告及文献复习

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Abstract

BACKGROUND: Pulmonary lymphangioleiomyomatosis (PLAM) is a rare progressive interstitial lung disease characterized by diffuse cystic lesions predominantly affecting women of childbearing age. Its clinical manifestations are diverse and nonspecific. Cases of PLAM complicated with pulmonary tuberculosis (TB) are extremely rare. Here, we retrospectively report one case of PLAM with concurrent TB and review the relevant literature to summarize its clinical, imaging, pathological, diagnostic, therapeutic, and prognostic features, with the aim of providing references for the pathological diagnosis and differential diagnosis of PLAM. CASE PRESENTATION: A 36-year-old female was admitted with left pneumothorax and left lung nodules. Chest CT demonstrated a solid nodule in the anterior basal segment of the left lower lobe, tiny nodules in the left upper lobe and bilateral lower lobes, bilateral emphysema, left hydropneumothorax, minimal right pleural effusion, and focal right pleural thickening. Cardiopulmonary function tests, including echocardiography, pulmonary function testing, ECG, and blood gas analysis, were unremarkable. The patient underwent "single-port thoracoscopic wedge resection of the left lower lung lobe + pleural adhesion lysis + pleurodesis". The resected lesion from the left lower lobe was submitted for histopathological examination, which demonstrated epithelioid granulomas with coagulative necrosis, adjacent parenchymal emphysema and bullae, and spindle/epithelioid smooth muscle-like cells proliferation along cyst walls. Immunohistochemistry was positive for SMA, HMB45, Desmin, PR, and BRAF V600E. Special stains were negative for acid-fast bacilli, PAS, and PASM. Molecular testing confirmed a BRAF V600E mutation. A final diagnosis of PLAM complicated with TB was established. CONCLUSION: PLAM is a rare lung disease characterized primarily by diffuse interstitial lung lesions. It poses challenges in early diagnosis and has a poor prognosis. Its relationship with TB is complex, as the two conditions mutually promote each other and can act as both cause and effect. When the two coexist, the clinical manifestations are diverse. In-depth exploration of their pathological characteristics, diagnosis, and differential diagnosis is conducive to clinical diagnosis and treatment.

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