RETRACTED ARTICLE: Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: a case report

Vianna, Flávia Gavinho; Marchiori, Edson; Zanetti, Gláucia; Mano, Cláudia Mauro; Sarcinelli-Luz, Branca; Carvalho, Juliana França; Assed, Carla; Santos, Isabella Guedes; Santos, Alair Augusto Sarmet Moreira Damas dos; Vianna, Alberto Domingues

doi:10.1186/1757-1626-2-9124

Cases Journal

2009

DOI: 10.1186/1757-1626-2-9124

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RETRACTED ARTICLE: Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: a case report

Flávia Gavinho Vianna

Edson Marchiori

Gláucia Zanetti

et al.

Abstract: The authors describe a case of a 31-year-old female with tuberous sclerosis, a genetic, rare, variably expressed disease. Clinical symptoms were chest pain, and progressive dyspnea. Computed tomography scan of the chest showed bilateral, diffuse, small thin-walled cysts scattered throughout the lungs characteristic for pulmonary lymphangioleiomyomatosis. Computed tomography scan of the abdomen revealed enlarged, heterogeneous kidneys, with low density tumors corresponding to angiomyolipomas. Pulmonary lymphang… Show more

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Cited by 4 publications

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Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

Ranke

Zanetti

Silva

et al. 2015

Lung

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Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease with high phenotypic variability. The incidence is approximately one in 5000-10,000 births. TSC is characterized by widespread hamartomas and benign or rarely malignant neoplasms affecting various organs, most commonly the brain, skin, retinas, kidneys, heart, and lungs. The wide range of organs affected reflects the roles of TSC1 and TSC2 genes in the regulation of cell proliferation and differentiation. Clinical diagnostic criteria are important because genetic testing does not identify the mutation in up to 25% of patients. Imaging is pivotal, as it allows a presumptive diagnosis of TSC and definition of the extent of the disease. Common manifestations of TSC include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis (LAM), renal angiomyolipoma, and skin lesions. Pulmonary involvement consists of LAM and, less commonly, multifocal micronodular pneumocyte hyperplasia (MMPH), which causes cystic and nodular diseases, respectively. Recent reports indicate that pulmonary LAM is found by computed tomography in up to 35% of the female patients with TSC. MMPH is rare and may be associated with LAM or, less frequently, occurs as an isolated pulmonary manifestation in women with TSC. Dyspnea and pneumothorax are common clinical presentations of LAM, whereas MMPH is usually asymptomatic. The aim of this review is to describe the main clinical, imaging, and pathological aspects of TSC, with a focus on pulmonary involvement.

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Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

Ranke

Zanetti

Silva

et al. 2015

Lung

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Giant Bilateral Renal Angiomyolipomas and Lymphangioleiomyomatosis Presenting after Two Successive Pregnancies Successfully Treated with Surgery and Rapamycin

Peces

Cuesta-López

Peces

et al. 2011

The Scientific World JOURNAL

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We report the case of a 25-year-old woman who presented with abdominal and flank pain with two successive pregnancies and was diagnosed of giant bilateral renal AMLs and pulmonary LAM associated with TSC in the post-partum of her second pregnancy. This case illustrates that in women with TSC rapid growth from renal AMLs and development of LAM may occur with successive pregnancies. It also stresses the potential for preservation of renal function despite successive bilateral renal surgery of giant AMLs. Moreover, the treatment with a low-dose rapamycin may be an option for LAM treatment. Finally, a low-dose rapamycin may be considered as an adjuvant treatment together to kidney-sparing conservative surgery for renal AMLs.

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Multiple cystic lung disease

et al. 2015

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Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.

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RETRACTED ARTICLE: Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: a case report

Cited by 4 publications

References 13 publications

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

Giant Bilateral Renal Angiomyolipomas and Lymphangioleiomyomatosis Presenting after Two Successive Pregnancies Successfully Treated with Surgery and Rapamycin

Multiple cystic lung disease

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