Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
复制标题
12 例由 CHST14/D4ST1 缺陷引起的肌肉收缩性埃勒斯-当洛斯综合征 (mcEDS-CHST14) 患者的脊柱表现。
DOI：
10.1002/ajmg.a.40507
复制
发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Takahashi J.
中科院分区：
文献类型：
--
作者：
Uehara M;Kosho T;Yamamoto N;Takahashi HE;Shimakura T;Nakayama J;Kato H;Takahashi J.
由CHST 14（mcEDS‐ CHST 14）突变引起的肌肉挛缩性埃勒斯-当洛斯综合征是一种最近描述的疾病，其特征为颅面、骨骼、内脏和眼部畸形;以及进行性皮肤、骨骼、血管和内脏脆性相关表现。脊柱病变虽然是最严重的并发症之一，但尚未得到系统的研究。在这项研究中，我们报告了12例患者的脊柱病变的详细和全面的信息，平均年龄为13.4岁。8例患者（66.7%）存在Cobb角≥10°的脊柱侧凸，包括1例Cobb角≥45°的重度脊柱侧凸。5名患者（41.7%）在胸腰椎连接处发生后凸，后凸角≥20°。3例患者（25%）发生严重胸腰椎后凸，后凸角≥50°，伴有胸椎前凸，伴楔形椎体畸形和胸腰椎连接处的前路椎体骨赘，其中2例接受了手术矫正：1例并发瘘形成，另1例通过二期手术安全有效。6例患者（50.0%）有颈椎后凸，除1例外，所有患者胸腰椎后凸≥20°。寰枢椎半脱位2例（16.7%），颈椎畸形10例（83.3%）。mcEDS‐ CHST 14患者易发生脊柱侧凸、胸腰椎后凸和颈椎后凸;建议定期进行监测，包括全脊柱放射学检查。目前的研究结果还表明硫酸皮肤素在脊柱的发育和维护中起着关键作用。
Musculocontractural Ehlers‐Danlos syndrome caused by mutations inCHST14(mcEDS‐CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility‐related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13.4 years. Eight patients (66.7%) had scoliosis with a Cobb angle ≥10°, including one with severe scoliosis with a Cobb angle ≥45°. Five patients (41.7%) had kyphosis at the thoracolumbar junction with a kyphotic angle ≥20°. Three patients (25%) developed severe thoracolumbar kyphosis with a kyphotic angle ≥50° accompanied by thoracic lordosis with a wedge‐like vertebral deformity and anterior vertebral osteophyte at the thoracolumbar junction, and two of them underwent surgical correction: complicated by fistula formation in one and performed safely and effectively through two‐staged operation in the other. Six patients (50.0%) had cervical kyphosis, all of whom except one had kyphosis ≥20° at the thoracolumbar level. Two patients (16.7%) had atlantoaxial subluxation, and 10 patients (83.3%) had cervical vertebral malformations. Patients with mcEDS‐CHST14are susceptible to develop scoliosis, thoracolumbar kyphosis, and cervical kyphosis; and are recommended to have regular surveillance including total spine radiology. The present findings also suggest the critical role of dermatan sulfate in the development and maintenance of the spine.