Expanding the radiological spectrum of Lymphangioleiomyomatosis: A case with Unique imaging findings

Abstract

Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease linked to tuberous sclerosis (TSC) gene mutations and female sex restriction. Pulmonary cysts on high-resolution computed tomography (HRCT) are its hallmark. We report an unusual LAM case with minimal cystic changes, diffuse ground-glass opacities, and randomly distributed nodules. Diagnosis was confirmed by histopathology and elevated serum VEGF-D levels. The patient responded well to sirolimus, later discontinuing it, completing pregnancy without exacerbation, and safely resuming therapy postpartum. This case underscores the diagnostic challenges of atypical LAM and highlights the importance of early diagnosis and individualized management in women of childbearing age.