Barajas Brenda D, Sun Angela, Rimoin David L, Reinstein Eyal
Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Am J Med Genet A. 2013 Jun;161A(6):1442-6. doi: 10.1002/ajmg.a.35894. Epub 2013 Apr 30.
Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have also demonstrated vascular fragility, leading to arterial aneurysm and rupture, but there have been no documented cases of ACS. Here, we report on a female patient with a history of recurrent compartment syndrome who exhibits some clinical findings seen in hypermobile and vascular EDS; however she does not meet clinical and molecular diagnostic criteria for either of them. We further review the literature on ACS in heritable connective tissue disorders and suggest that compartment syndrome may rarely complicate other heritable disorders of connective tissue.
动脉并发症在血管型埃勒斯-当洛综合征（EDS）中很常见，占首发并发症的66%。文献中有几例记录了血管型EDS血管破裂后发生的急性骨筋膜室综合征（ACS）。其他结缔组织疾病也表现出血管脆性，导致动脉瘤和破裂，但尚无ACS的记录病例。在此，我们报告一名有复发性骨筋膜室综合征病史的女性患者，她表现出一些在关节活动过度型和血管型EDS中可见的临床特征；然而，她不符合这两种类型的临床和分子诊断标准。我们进一步回顾了遗传性结缔组织疾病中关于ACS的文献，并提出骨筋膜室综合征可能很少使其他遗传性结缔组织疾病复杂化。
