Caso Clínico
Esclerose tuberosa com envolvimento pulmonar
Tuberous sclerosis with pulmonary involvment
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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-se pelo 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.</p>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">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 angiomyio-lipomas). The authors present this case because of its rarity and the existence of pulmonary involvement, while still asymptomatic.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografia" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:15 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Scléreuse tubéreuse des circonvolutions cérébrales. Idiotie et épilepsie hémiplégiques" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "D.M. Bourneville" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Libro" => array:2 [ "fecha" => "1884" "editorial" => "Bulletin de la Société médicale des hôpitaux de Paris" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2." 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Yates" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/sj.ejhg.5201625" "Revista" => array:7 [ "tituloSerie" => "Eur J Hum Genet" "fecha" => "2006" "volumen" => "14" "numero" => "10" "paginaInicial" => "1065" "paginaFinal" => "1073" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16868562" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "pt" "url" => "/21735115/0000001600000002/v1_201305151526/S2173511510700415/v1_201305151526/pt/main.assets" "Apartado" => array:4 [ "identificador" => "9550" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Case Report/Caso Clínico" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735115/0000001600000002/v1_201305151526/S2173511510700415/v1_201305151526/pt/main.pdf?idApp=UINPBA00004E&text.app=https://journalpulmonology.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173511510700415?idApp=UINPBA00004E" ]
Article information
ISSN: 21735115Original language: Portuguese
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