Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

Abstract

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. LEARNING POINTS • 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.

Bilateral Changes in the Lungs of a Pregnant Woman Caused by Bilateral Spontaneous Pneumothorax

“…In the literature, LAM has been described as a tumor associated with tuberous sclerosis. Pneumothorax and acute respiratory distress syndrome are the leading symptoms of LAM [1,2]. The literature describes patients who have been diagnosed with LAM in pregnancy and who have had to have a premature birth [3,4].…”