Silva, Duarte Lages and Pinto, Pedro and Costa, Miguel and Maia, Rosana and Rodrigues, Carmelia (2019) Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis. European Journal of Case Reports in Internal Medicine, 6 (10). ISSN 2284-2594
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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.
| Item Type: | Article |
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| Uncontrolled Keywords: | Tuberous sclerosis complex, lymphangioleiomyomatosis, pneumothorax |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 19 Nov 2020 09:11 |
| Last Modified: | 19 Nov 2020 09:11 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/19528 |
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