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Revista Portuguesa de Pneumologia

versão impressa ISSN 0873-2159


FERREIRA, Susana et al. Tuberous sclerosis with pulmonary involvment. Rev Port Pneumol [online]. 2010, vol.16, n.2, pp.339-344. ISSN 0873-2159.

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.

Palavras-chave : Tuberous sclerosis; lymphangioleiomyomatosis; angiomyolipoma.

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