osterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.
osterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.
复制标题
后路脊柱融合术治疗肌肉收缩性埃勒斯-当洛斯综合征的严重脊柱畸形：对一个新病例的详细观察和对 2 个报告病例的回顾。
DOI：
10.1016/j.wneu.2020.08.085
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发表时间：
2020
影响因子：
2
通讯作者：
Takahashi J.
中科院分区：
文献类型：
--
作者：
Uehara M;Oba H;Hatakenaka T;Ikegami S;Kuraishi S;Takizawa T;Munakata R;Mimura T;Yamaguchi T;Kosho T;Takahashi J.
由CHST14致病变异引起的肌肉收缩Ehler-Danlos综合征(mcEDS-CHST14)是近年来发现的一种以多系统先天性畸形和进行性结缔组织脆性相关表现为特征的结缔组织病。到目前为止，只有2例mcEDS-CHST14包含手术脊柱矫正的准确信息被报道，治疗标准仍然没有达成共识。这项研究描述了第三位已知的mcEDS-CHST14患者的详细临床和放射学结果，她成功地接受了严重脊柱后凸手术。术前主弯Cobb角69度，后凸角27度，T4~L4后路全椎弓根螺钉融合。术后主弯Cobb角为26°，后凸角度为6°。尽管获得了足够的矫正，没有弥漫性血管内凝血或其他严重的后遗症，但由于组织脆性，大量血液(2600g)丢失。结论根据现有病例和早期报道的2例病例，后路脊柱融合术可能是治疗严重进行性脊柱畸形的一种合理的手术选择。然而，需要仔细注意组织脆性可能导致的大量失血。
BackgroundMusculocontractural Ehlers-Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14) is a recently delineated connective tissue disorder characterized by multisystem congenital malformations and progressive connective tissue fragility-related manifestations. With only 2 cases of mcEDS-CHST14containing precise information on surgical spinal correction being reported to date, there remains no consensus on treatment standards. This study describes the detailed clinical and radiologic outcomes of the third known patient with mcEDS-CHST14who successfully underwent surgery for severe kyphoscoliosis.Case DescriptionThe patient was a 19-year-old girl with mcEDS-CHST14who suffered from low back pain and decreased daily activities caused by progressive kyphoscoliosis. She underwent posterior spinal fusion with an all-pedicle screw construct from T4 to L4 for a preoperative main curve Cobb angle of 69 degrees and kyphotic angle of 27 degrees. Postoperative Cobb angle of the main curve and kyphotic angle were 26 and 6 degrees, respectively. Although sufficient correction was achieved without disseminated intravascular coagulation or other serious sequelae, a large amount of blood (2600 g) was lost due to tissue fragility. Her low back pain was decreased at 1 year after surgery.ConclusionsOn the basis of the present and 2 earlier reported cases, posterior spinal fusion may be a reasonable surgical option for severe progressive spinal deformities in patients with mcEDS-CHST14. However, careful attention is needed for possible massive blood loss from tissue fragility.