A Rare Pulmonary Manifestation of Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is a rare autosomal-dominant multisystem disorder caused by mutations in the TSC1 or TSC2 genes, often leading to overactivation of the mTOR pathway. Pulmonary involvement, though uncommon, may include lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). We present the case of a 34-year-old female with established TSC who presented with acute dyspnea and was found to have a secondary spontaneous pneumothorax. Imaging revealed multiple cystic lesions and ground-glass nodules consistent with LAM and MMPH, confirmed on biopsy. The patient was successfully managed with intercostal drainage and mechanical pleurodesis and remains stable on follow-up. This case highlights the rare co-occurrence of LAM and MMPH in a TSC patient and, to our knowledge, represents the first documented case of MMPH in India. Awareness of such atypical pulmonary manifestations is essential for timely diagnosis and management in TSC patients.