Sudden death in acrogeria Gottron type
AbstractIn this paper, we describe the case of a 29-year-old Caucasian male who was reported dead in his home. In 2010, a diagnosis of acrogeria, Gottron type was obtained by genetic analysis of a COL3A1 gene mutation. External examination showed typical characteristics of acrogeria, Gottron type. Autopsy showed a full-thickness laceration in the inferior vena cava wall, which caused hemorrhage and death. Samples of inferior vena cava were processed by Masson trichrome staining, which revealed a reduction in vessel wall thickness and a decrease in the amount of elastic fibers. An antibody reaction with BCL-2 was intensely positive. Our case is extremely rare in the medical field and in the world of scientific literature, both because the patient had a variant of acrogeria, Gottron type and because of the cause of death, which is not typical of Ehlers-Danlos syndrome. To the best of our knowledge, this very rare event has not previously been reported in the international scientific literature.
No abstract available
DiscussionCette étude a permis de mettre à jour une altération de la capacité de ces patients à utiliser les afférences proprioceptives tant pour le contrôle de l’orientation que de la stabilisation posturale.
No abstract available
This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher]
We present the case of a 9-year-old boy with abdominal pain and retching. An abdominal computed tomography revealed free air under the diaphragm, and surgical exploration showed perforation of the sigmoid colon. Ultimately, he was diagnosed with vEDS. We review the literature and discuss the clinical presentation, diagnosis, and life-threatening crises associated with vEDS.
Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a monogenetic disease caused by a mutation in procollagen 3A1. Clinical manifestations are arterial ruptures and dissections, as well as spontaneous ruptures of the colon, oesophagus and uterus. Expected survival is short, in historical cohorts approximately 50 years. In 2010 a French-Belgian randomized controlled trial (RCT), including 53 patients, reported a hazard ratio of only 0.36 of arterial events if patients were treated with the betablocker celiprolol , combining β1-adrenoceptor antagonist and β2-adrenoceptor agonist actions.
This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type.
Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | &nb...
AbstractA unique case of a patient with Ehlers ‐Danlos type IV syndrome was referred with aortic root aneurysm and previous cosmetic primary repair of pectus excavatum (PE) through a solid silicone onlay prosthesis. The patient underwent successful removal of the silicone prosthesis and one‐stage ascending aortic root replacement with concom itant Nuss procedure for repair of the PE.