Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome.
Ann Vasc Surg
; 23(2): 256.e1-4, 2009 Mar.
Article
em En
| MEDLINE
| ID: mdl-18804950
This case report describes concurrent splenic peliosis and vascular Ehlers-Danlos syndrome (EDS) in a 59-year-old male patient. After splenic rupture due to peliosis, the complicated postoperative period hinted at the possibility of vascular EDS. This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). In addition, a histological diagnosis of splenic peliosis could be established.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
Base de dados:
MEDLINE
Assunto principal:
Esplenopatias
/
Ruptura Esplênica
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Síndrome de Ehlers-Danlos
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ann Vasc Surg
Ano de publicação:
2009
Tipo de documento:
Article