Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

Keywords

Tuberous sclerosis complex, lymphangioleiomyomatosis, pneumothorax

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.

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  • Published: 2019-09-30

    Issue: Vol 6 No 10 (view)

    Section: Articles

    How to cite:
    Silva, D., Pinto, P., Costa, M., Maia, R., & Rodrigues, C. (2019). Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis. European Journal of Case Reports in Internal Medicine, 6(10). https://doi.org/https://doi.org/10.12890/2019_001264