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埃勒斯-当洛综合征活动过度型中的肠内脏下垂:一种罕见表现的病例报告及文献综述

Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.

作者信息

Reinstein Eyal, Pimentel Mark, Pariani Mitchel, Nemec Stephen, Sokol Thomas, Rimoin David L

机构信息

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

出版信息

Eur J Med Genet. 2012 Oct;55(10):548-51. doi: 10.1016/j.ejmg.2012.06.012. Epub 2012 Jul 7.

Abstract

Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos syndrome.

摘要

胃肠道并发症在埃勒斯-当洛综合征患者中很常见,根据亚型不同,高达50%的患者会受到影响。胃肠道表现的范围很广,从危及生命的内脏器官自发性穿孔到较为良性的功能性症状。在此,我们描述肠内脏下垂的临床和影像学表现,这是埃勒斯-当洛综合征的一种罕见并发症,其特征是腹部器官脱垂至其自然位置以下。我们还回顾了关于不同类型埃勒斯-当洛综合征胃肠道并发症的文献。

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