Department of Neurosurgery, University of Minnesota, Room D-429, Mayo Mail Code 96, 420 Delaware St. SE, Minneapolis, MN, 55455, USA.
Division of Pediatric Blood and Marrow Transplant, University of Minnesota, 554D Masonic Cancer Research Building, 425 East River Parkway, Minneapolis, MN, 55455, USA.
Neuroradiology. 2024 Nov;66(11):2083-2088. doi: 10.1007/s00234-024-03462-4. Epub 2024 Sep 5.
Gibbus deformity has been documented as a common musculoskeletal abnormality in mucopolysaccharidosis type I (Hurler syndrome, MPS IH), and its recognition often leads to the diagnosis of MPS IH. While the incidence has been described, the progression of gibbus deformities is not well known. Here we describe the natural history of gibbus deformity in a single center patient population using serial spinal MRI scans.
All spinal MRI scans in MPS IH patients were retrospectively reviewed. The presence, spinal location, and angulation of the gibbus deformities were collected. The angles between the superior endplate of the superior normal vertebral body and the inferior endplate of the inferior normal vertebral body were measured.
24 of 47 patients (51%) were found to have cervico-thoracic deformity on their cervical MRI scans, and 19 of those 24 (79%) patients were found to have progressive cervico-thoracic deformity with average change of angle of 17.1 degrees [range 3.9, 62.8] over 5.3 years. 7 of 8 patients who had thoraco-lumbar MRI were found to have thoraco-lumbar deformity, and 4 of those 7 patients (57%) were found to have progressive thoraco-lumbar deformity with the average increase angle of 16.7 degrees [range 3.3, 47.1] over an average of 4.1 years.
We found out that baseline spinal measurement cannot reliably predict the progression as multiple patients with normal alignment eventually developed severe deformity, whereases patients with severe deformity did not progress to require surgical intervention.
脊柱后凸畸形已被证实为黏多糖贮积症 I 型（Hurler 综合征，MPS IH）的一种常见骨骼肌肉异常，其识别通常导致 MPS IH 的诊断。虽然已经描述了发病率，但脊柱后凸畸形的进展情况尚不清楚。在这里，我们使用连续脊柱 MRI 扫描来描述单一中心患者群体中脊柱后凸畸形的自然史。
回顾性分析 MPS IH 患者的所有脊柱 MRI 扫描。收集脊柱后凸畸形的存在、脊柱位置和角度。测量上正常椎体上终板与下正常椎体下终板之间的角度。
24 例 47 例（51%）患者的颈椎 MRI 扫描显示颈胸段畸形，其中 24 例（79%）患者发现进展性颈胸段畸形，平均角度变化为 17.1°[3.9°，62.8°]，随访时间为 5.3 年。8 例有胸腰椎 MRI 的患者中，7 例有胸腰椎畸形，其中 4 例（57%）发现进展性胸腰椎畸形，平均角度增加 16.7°[3.3°，47.1°]，平均随访时间为 4.1 年。
我们发现基线脊柱测量不能可靠地预测进展，因为许多脊柱排列正常的患者最终出现严重畸形，而严重畸形的患者并没有进展到需要手术干预的程度。
