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Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome.
van Bon, Arianne C; Kristinsson, Jón O; van Krieken, J H J M; Wanten, Geert J.
Afiliação
  • van Bon AC; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Esplenopatias / Ruptura Esplênica / 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

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Esplenopatias / Ruptura Esplênica / 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