Annals of vascular surgery, 2009-03, Vol.23 (2), p.256.e1-256.e4
2009
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Details
- Autor(en) / Beteiligte
- Titel
- Concurrent Splenic Peliosis and Vascular Ehlers-Danlos Syndrome
- Ist Teil von
- Annals of vascular surgery, 2009-03, Vol.23 (2), p.256.e1-256.e4
- Ort / Verlag
- Netherlands: Elsevier Inc
- Erscheinungsjahr
- 2009
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0890-5096eISSN: 1615-5947DOI: 10.1016/j.avsg.2008.02.004Titel-ID: cdi_proquest_miscellaneous_67057559
- Format
- –
- Schlagworte
- Abdominal Abscess - etiology, Aneurysm, Dissecting - etiology, Aortic Aneurysm, Thoracic - etiology, Catheter-Related Infections - etiology, Collagen Type III - genetics, Diaphragm - injuries, Ehlers-Danlos Syndrome - complications, Ehlers-Danlos Syndrome - diagnosis, Ehlers-Danlos Syndrome - genetics, Genetic Testing, Humans, Intestinal Fistula - etiology, Male, Middle Aged, Pancreatic Fistula - etiology, Pancreatitis - etiology, Pedigree, Point Mutation, Splenectomy - adverse effects, Splenic Diseases - complications, Splenic Diseases - pathology, Splenic Diseases - surgery, Splenic Rupture - etiology, Splenic Rupture - surgery, Surgery, Tomography, X-Ray Computed, Treatment Outcome