Cargando…
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...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SMC Media Srl
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822674/ https://www.ncbi.nlm.nih.gov/pubmed/31742202 http://dx.doi.org/10.12890/2019_001264 |
_version_ | 1783464383006900224 |
---|---|
author | Silva, Duarte Lages Pinto, Pedro Costa, Miguel Maia, Rosana Rodrigues, Carmélia |
author_facet | Silva, Duarte Lages Pinto, Pedro Costa, Miguel Maia, Rosana Rodrigues, Carmélia |
author_sort | Silva, Duarte Lages |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6822674 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SMC Media Srl |
record_format | MEDLINE/PubMed |
spelling | pubmed-68226742019-11-18 Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis Silva, Duarte Lages Pinto, Pedro Costa, Miguel Maia, Rosana Rodrigues, Carmélia Eur J Case Rep Intern Med Articles 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. SMC Media Srl 2019-09-30 /pmc/articles/PMC6822674/ /pubmed/31742202 http://dx.doi.org/10.12890/2019_001264 Text en © EFIM 2019 This article is licensed under a Commons Attribution Non-Commercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) |
spellingShingle | Articles Silva, Duarte Lages Pinto, Pedro Costa, Miguel Maia, Rosana Rodrigues, Carmélia Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title | Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title_full | Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title_fullStr | Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title_full_unstemmed | Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title_short | Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis |
title_sort | pneumothorax as a presentation of tuberous sclerosis-associated lymphangioleiomyomatosis |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822674/ https://www.ncbi.nlm.nih.gov/pubmed/31742202 http://dx.doi.org/10.12890/2019_001264 |
work_keys_str_mv | AT silvaduartelages pneumothoraxasapresentationoftuberoussclerosisassociatedlymphangioleiomyomatosis AT pintopedro pneumothoraxasapresentationoftuberoussclerosisassociatedlymphangioleiomyomatosis AT costamiguel pneumothoraxasapresentationoftuberoussclerosisassociatedlymphangioleiomyomatosis AT maiarosana pneumothoraxasapresentationoftuberoussclerosisassociatedlymphangioleiomyomatosis AT rodriguescarmelia pneumothoraxasapresentationoftuberoussclerosisassociatedlymphangioleiomyomatosis |