Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Détails
ID Serval
serval:BIB_E8755138D6A4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Périodique
BMJ case reports
ISSN
1757-790X (Electronic)
ISSN-L
1757-790X
Statut éditorial
Publié
Date de publication
21/01/2013
Peer-reviewed
Oui
Volume
2013
Pages
bcr2012007911
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterised by multiple hamartomas, caused by inactivating mutations of the TSC1/TSC2 tumour suppressor genes. Classical pulmonary involvement in tuberous sclerosis complex (TSC) consists of lymphangioleiomyomatosis and/or multiple micronodular pneumocyte hyperplasia (MMPH). Association of TSC with pulmonary artery aneurysm (PAA) has been only exceptionally described. We report here the first case of TSC with multiple PAA in combination with MMPH, cardiac rhabdomyomas and bone, skin and brain involvement.
Mots-clé
Aneurysm/complications, Aneurysm/diagnostic imaging, Child, Preschool, Dyspnea/etiology, Female, Humans, Infant, Pulmonary Artery, Tomography, X-Ray Computed, Tuberous Sclerosis/complications
Pubmed
Création de la notice
05/02/2013 8:40
Dernière modification de la notice
20/08/2019 16:11
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