Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disorder with a recognized phenotypic variability with clinical manifestations developing continuously throughout life. The follow-up of TSC patients is challenging. The authors present a case with a definite diagnosis of TSC with known skin, renal, hepatic and neuropsychiatric involvement, whose diagnosis of TSC-associated lymphangioleiomyomatosis was establish at a late stage after the patient had presented with recurrent pneumothorax. Notwithstanding, mammalian target of rapamycin inhibition therapy was initiated.

Tuberous sclerosis complex (TSC) is a systemic and progressive disorder leading to significant morbidity, highlighting the need to closely monitor such patients.TSC-associated lymphangioleiomyomatosis is the major pulmonary manifestation and screening at an early stage is imperative.Managing TSC requires a multidisciplinary approach and the introduction of mammalian target of rapamycin (mTOR) inhibition therapy reinforces the need for collaboration between well-prepared health professionals.