Department of Radiology, Diyarbakir Children's Hospital, Diyarbakır, Turkey.
Department of Pediatric Nutrition and Metabolism, Diyarbakir Children's Hospital, Diyarbakır, Turkey.
J Clin Densitom. 2022 Oct-Dec;25(4):475-484. doi: 10.1016/j.jocd.2022.08.001. Epub 2022 Aug 18.
The first aim of this study is to define the severity of radiologic features according to mucopolysaccharidosis (MPS) type. The second aim is to compare spine radiographs with dual-energy X-ray absorptiometry (DXA) scores.
A total of 64 MPS children were enrolled between January 2017 and March 2021. Patients with a history of surgery, fracture or improper radiographs were excluded. Finally, 48 cases (20 MPS VI, 12 MPS IVA, 7 MPS IIIA, 4 MPS IIIB, 3 MPS II, 2 MPS I) were yielded. Among them, 38 had DXA performed in the same week with radiographs. Demographic and radiographic features and the hip acetabular index were noted. T12-L5 vertebral body heights were measured from lateral spine radiographs and divided by patient height. DXA measurements, bone mineral density and Z-scores were also recorded.
Spine and hip findings were most frequently seen in MPS VI and IVA. Oar-shaped ribs were more common in MPS VI, whereas anteromedial beaking of vertebra was predominantly seen in MPS IVA. Femoral head dysplasia is most common in MPS IVA, VI and I. The highest mean acetabular was observed in MPS I. The mean Z-score of L1-L4 vertebrae was low for MPS I (-3.8), IVA (-3.79) and VI (-3.73), but normal for MPS II (0.6) and IIIA (0.23). Correlation between the Z-score and vertebral index was highest in the L1 vertebral body.
Interpreting the characteristic radiographic features of different MPS types is important. In addition to dysostosis multiplex, quantitative measurements from radiographs may be beneficial in evaluating disease progression.
本研究的首要目标是根据黏多糖贮积症（MPS）的类型定义放射学特征的严重程度。第二个目标是比较脊柱 X 光片和双能 X 射线吸收法（DXA）评分。
共纳入 2017 年 1 月至 2021 年 3 月期间的 64 名 MPS 患儿。排除有手术史、骨折或不当 X 光片的患者。最终纳入 48 例（20 例 MPS VI、12 例 MPS IVA、7 例 MPS IIIA、4 例 MPS IIIB、3 例 MPS II、2 例 MPS I）。其中 38 例在同一周内进行了 X 光片和 DXA 检查。记录人口统计学和放射学特征以及髋关节髋臼指数。从侧位脊柱 X 光片测量 T12-L5 椎体高度，并除以患者身高。还记录了 DXA 测量值、骨密度和 Z 评分。
脊柱和髋关节表现最常发生于 MPS VI 和 IVA。桨状肋骨更常见于 MPS VI，而前内侧椎体喙突则主要见于 MPS IVA。股骨头发育不良最常见于 MPS IVA、VI 和 I。髋臼最高平均值见于 MPS I。L1-L4 椎体的平均 Z 评分在 MPS I（-3.8）、IVA（-3.79）和 VI（-3.73）中较低，但在 MPS II（0.6）和 IIIA（0.23）中正常。L1 椎体的 Z 评分与椎体指数之间的相关性最高。
解释不同 MPS 类型的特征性放射学特征很重要。除了多发性骨发育不良外，X 光片的定量测量可能有助于评估疾病进展。
