Spinal abnormalities in neurofibomatosis type 1

神经纤维瘤病1型(NF1)是一种常见的遗传性疾病，具有高度的临床变异性 表达，包括超过1/3的患者骨骼异常。这种疾病与脊椎有关。 畸形、长骨发育不良和蝶骨发育不良。这些骨性表现是 不可预测，发病机制、自然病史和临床结果仍相对不明。这个 脊柱异常多种多样，包括脊柱侧弯(常见和营养不良形式)、神经纤维瘤、硬脑膜 扩张症、脑膜膨出和脊椎缺陷。这项临床研究的主要目标是确定 120名青春期前儿童中NF1相关脊柱异常的发生率和临床病史 在NF1工作了3年以上。次要目标是确定各种放射检查的有效性。 作为营养不良性脊柱侧凸预测指标的工具。这些目标将通过三个具体目标来实现。目标1是 明确脊髓硬膜扩张症、脊髓神经纤维瘤和脑膜膨出与发育不良的关系 骨性异常和营养不良性脊柱侧弯。脊柱X光片和核磁共振将被用来测试 假设有某些症状的NF1患者更有可能发展为营养不良性脊柱侧弯。目标 2确定营养不良性脊柱侧弯和脊柱畸形的临床病史和短期预后。 关于各种放射学指标。它检验了这样一种假设，即在 椎体扇形与椎管和椎体横截面积有关联时 额外的营养不良异常，这些差异是营养不良性脊柱侧弯的预后指标。 目的3是确定NF1患者和非NF1患者之间的骨健康变量的差异 NF1，以及无营养不良脊柱侧弯的NF1个体与有发育障碍的NF1个体之间的差异 营养不良性脊柱侧弯。双能X线骨密度仪(DXA)和外周计算机定量 体层摄影术(PQCT)将被用来检验有细微的骨异常的假说。 NF1中的矿物质密度、骨面积、骨量、肌骨比和皮质厚度。尿液 将测量Dyriddium的交联度，以检测骨吸收方面的差异。NF1患者的脊柱异常 营养不良性脊柱侧弯是一种高度病态的疾病。这项提案将确定 NF1患者作为营养不良性脊柱侧凸预后因素的变量，以改善临床治疗。

Neurofibromatosis type 1 (NF1) is a common genetic disorder with a high degree of variability of clinical expression, including skeletal abnormalities in over 1/3 of patients. This disorder is associated with spinal abnormalities, long bone dysplasia, and sphenoid wing dysplasia. These osseous manifestations are unpredictable, and the pathogenesis, natural history, and clinical outcome remain relatively obscure. The spinal abnormalities are varied and include scoliosis (common and dystrophic forms), neurofibromas,dural ectasias, meningoceles, and vertebral defects. The primary objectives of this clinical study are to determine the incidence and clinical history of NF1-related spinal abnormalities in a prepubertal cohort of 120 children with NF1 over 3 years. Secondary objectives are to determine the efficacy of various radiographic screening tools as predictors for dystrophic scoliosis. These goals will be accomplished in 3 specific aims. Aim 1 is to identify associations of spinal cord dural ectasias, spinal neurofibromas,and meningoceles with dysplastic osseous abnormalities and dystrophic scoliosis. Spine radiographs and MRI will be used to test the hypothesis that NF1 patients with certain manifestations are more likely to develop dystrophic scoliosis. Aim 2 is to define the clinical history and short-term outcome of dystrophic scoliosis and spine abnromalities with respect to various radiographic indices. It tests the hypothesis that there are quantitative differences in vertebral scalloping and spinal canal and vertebral body cross-sectional areas when there is an associated additional dystrophic abnormality, and these differences are prognostic indicators for dystrophic scoliosis. Aim 3 is to determine the differences in bone health variables between NF1 patients and individuals without NF1, and between NF1 individuals without dystrophic scoliosis versus NF1 individuals who develop dystrophic scoliosis. Dual energy x-ray absorptiometry (DXA) and peripheral quantitative computerized tomography (pQCT) will be used to test the hypothesis that there-are subtle bone abnormalities of bone mineral density, bone area, bone mass, muscle-to-bone ratios, and cortical thickness in NF1. Urinary Dyridinium cross-links will be measured to detect differences in bone resorption. Spinal abnormalities in NF1 are not well understood, and dystrophic scoliosis is a highly morbid condition. This proposal will identify variables in patients with NF1 as prognostic factors for dystrophic scoliosis to improve clinical management.