Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Details
Serval ID
serval:BIB_E8755138D6A4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Journal
BMJ case reports
ISSN
1757-790X (Electronic)
ISSN-L
1757-790X
Publication state
Published
Issued date
21/01/2013
Peer-reviewed
Oui
Volume
2013
Pages
bcr2012007911
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Publication Status: epublish
Abstract
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.
Keywords
Aneurysm/complications, Aneurysm/diagnostic imaging, Child, Preschool, Dyspnea/etiology, Female, Humans, Infant, Pulmonary Artery, Tomography, X-Ray Computed, Tuberous Sclerosis/complications
Pubmed
Create date
05/02/2013 8:40
Last modification date
20/08/2019 16:11
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