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Abstract：
Background Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder that predominantly affects cardiovascular, skeletal, and craniofacial structures. Associated thoracolumbar scoliosis in LDS can be challenging to manage, though other etiologies of pediatric scoliosis have better-defined management guidelines. We examined our institutional experience regarding the treatment of pediatric patients with LDS and scoliosis. Methodology In this retrospective study, all patients seen at our pediatric tertiary care center from 2004 through 2018 with a diagnosis of LDS were reviewed, and those with radiographic diagnoses of scoliosis (full-length scoliosis X-rays) were included. Demographic, clinical, and radiographic parameters were collected, and management strategies were reported. Results A total of 39 LDS patients whose ages ranged between seven and 13 years were identified. A total of nine patients were radiographically diagnosed with scoliosis, but three patients were excluded due to incomplete medical records, leaving six patients. The median age at scoliosis diagnosis was 11.5 years, with a median follow-up of 51 months. Two patients were successfully managed with observation (average initial Cobb angle (CA): 14°, average final CA: 20.5°). Two were braced, one successfully (initial CA: 15°, final CA: 30°) and one with a progressive disease requiring surgery (initial CA: 40°, final CA: 58°). Of the two who were offered surgical correction, one underwent surgery with a durable correction of spinal deformity (CA: 33° to 19°). One patient underwent a recent correction of aortic root dilatation and was not a candidate for scoliosis surgery. Conclusions Principles of adolescent idiopathic scoliosis management such as bracing for CA of 20-50° and surgery for CA of >50° can be applied to LDS patients with good outcomes. This augments our understanding of the treatment algorithm for pediatric patients with LDS.
摘要：
Loeys-Dietz综合征（LDS）是一种遗传性结缔组织疾病，主要影响心血管疾病，骨骼，和颅面结构。LDS中相关的胸腰椎脊柱侧凸可能具有挑战性，尽管小儿脊柱侧凸的其他病因有更明确的治疗指南。我们检查了有关LDS和脊柱侧凸儿科患者治疗的机构经验。方法在这项回顾性研究中，我们回顾了2004年至2018年在我们的儿科三级护理中心看到的所有诊断为LDS的患者，包括那些有脊柱侧凸的影像学诊断（全长脊柱侧凸X射线）。人口统计,临床,并收集了射线照相参数，并报告了管理策略。结果共发现39例LDS患者，年龄在7至13岁之间。共有九位病人经放射学诊断为脊柱侧弯,但由于病历不完整，三名患者被排除在外，留下六个病人。脊柱侧弯诊断的中位年龄为11.5岁，中位随访时间为51个月。两名患者通过观察成功治疗（平均初始Cobb角（CA）：14°，平均最终CA：20.5°）。两个被支撑，一个成功(初始CA:15°,最终CA：30°）和一个患有需要手术的进行性疾病（初始CA：40°，最终CA：58°）。在接受手术矫正的两个人中，1人接受了脊柱畸形的持久矫正手术（CA：33°至19°）。一名患者最近接受了主动脉根部扩张的矫正，但不适合进行脊柱侧弯手术。结论青少年特发性脊柱侧凸的治疗原则，如20-50°CA的支撑和>50°CA的手术可应用于LDS患者，效果良好。这增加了我们对LDS儿科患者治疗算法的理解。
