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Vol. 16. Issue 2.
Pages 339-344 (March - April 2010)
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Vol. 16. Issue 2.
Pages 339-344 (March - April 2010)
Caso Clínico/Case Report
Open Access
Esclerose tuberosa com envolvimento pulmonar
Tuberous sclerosis with pulmonary involvment
Visits
5981
Susana Ferreira1,
Corresponding author
susalvesferreira@gmail.com

Correspondência: Susana Alves Ferreira, Rua Conceição Fernandes, Vilar de Andorinho, 4430-502 Vila Nova de Gaia, Portugal, Telefone: 00351912767155
, Carla Nogueira1, Daniela Ferreira2, Sofia Neves2, Natália Taveira3
1 Interna Complementar de Pneumologia
2 Assistente Hospitalar de Pneumologia
3 Assistente Hospitalar Graduada de Pneumologia CHVNG/Espinho EPE
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Resumo

A esclerose tuberosa (ET) é uma doença rara, esporádica ou transmitida de forma autossómica dominante. Caracteriza-se pela tríade convulsões, atraso mental e angiofibromas faciais. O envolvimento pulmonar é raro e, quando ocorre, é mais frequente no sexo feminino. Os autores apresentam o caso de uma doente de 52 anos, não fumadora, com antecedentes conhecidos de epilepsia na infância e angiomiolipomas renais. Assintomática e sem alterações ao exame objectivo. Em tomografia do tórax realizada para avaliação da doença, foram detectadas formações microquísticas dispersas em ambos os campos pulmonares. Exame funcional respiratório normal. A ressonância magnética cerebral evidenciou tuberosidades corticais e nódulos subependimários calcificados. Concluiu-sepelo diagnóstico de ET (linfangioleiomiomatose, tuberosidades corticais, nódulos subependimários e angiomiolipomas renais). Os autores apresentam o caso pela raridade da doença e do envolvimento pulmonar, ainda que em fase assintomática.

Rev Port Pneumol 2010; XVI (2): 339-344

Palavras-chave:
Angiomiolipoma
esclerose tuberosa
linfangioleiomiomatose
Abstract

Tuberous sclerosis (TS) is a rare, sporadic or autosomal dominant disease characterized by the triad of seizures, mental retardation and angiofibromas. Lungs are rarely involved in TS, and pulmonary involvement is almost always found in females. We report the case of a 52 year-old female, nonsmoker, with a history of seizures in childhood and renal angiomyolipomas. She presented no complaints and her physical exam was normal. Chest CT performed for the evaluation of the disease detected thin-walled pulmonary cysts in both lungs. Lung function tests were normal. Cortical tubers and calcified subependymal nodules were seen in cerebral magnetic resonance. Tuberous sclerosis was diagnosed (lymphangioleiomyomatosis, cortical tubers, calcified subependymal nodules and angiomyiolipomas). The authors present this case because of its rarity and the existence of pulmonary involvement, while still asymptomatic.

Rev Port Pneumol 2010; XVI (2): 339-344

Key-words:
Tuberous sclerosis
lymphangioleiomyomatosis
angiomyolipoma
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Copyright © 2010. Sociedade Portuguesa de Pneumologia/SPP
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