Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

Duarte Lages Silva; Pedro Pinto; Miguel Costa; Rosana Maia; Carmelia Rodrigues

doi:10.12890/2019_001264

Duarte Lages Silva
Serviço de Medicina 1, Unidade Local de Saúde do Alto Minho, EPE, Portugal
Pedro Pinto
Serviço de Medicina 1, Unidade Local de Saúde do Alto Minho, EPE, Portugal http://orcid.org/0000-0001-5580-1196
Miguel Costa
Serviço de Medicina 1, Unidade Local de Saúde do Alto Minho, EPE, Portugal http://orcid.org/0000-0002-5518-6995
Rosana Maia
Serviço de Medicina 1, Unidade Local de Saúde do Alto Minho, EPE, Portugal http://orcid.org/0000-0002-4401-9956
Carmelia Rodrigues
Serviço de Medicina 1, Unidade Local de Saúde do Alto Minho, EPE, Portugal http://orcid.org/0000-0001-8112-335X

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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References

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Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49(4):255–265.

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Published: 2019-09-30
Issue: Vol 6 No 10 (view)

How to cite:

1.

Silva DL, Pinto P, Costa M, Maia R, Rodrigues C. Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis. EJCRIM 2019;6 doi:10.12890/2019_001264.

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