合并广泛蒙古斑的黏多糖贮积症骨骼X线表现

Skeletal X-ray manifestations of mucopolysaccharidoses with extensive mongolian spots

目的:探讨合并广泛蒙古斑的黏多糖贮积症(MPS)患儿的骨骼系统X线表现。方法:回顾性分析10例MPS患儿的蒙古斑分布特征及骨骼系统X线表现,包括脊柱正侧位、骨盆正位及左腕正位。结果:10例患儿中6例合并广泛异常分布的蒙古斑,1例合并局限于骶尾部的叠加蒙古斑,3例未合并蒙古斑;10例患儿的骨骼X线均有异常表现。8例MPS患儿出现不同程度椎体前缘变尖,4例合并扁平椎;8例同时出现髂骨翼变圆和髂骨下段发育不全,8例出现髋外翻,8例出现双髋关节覆盖不全;4例出现骨龄延迟,8例出现爪形手,9例出现掌骨近端变尖,6例出现尺桡骨远端呈V型变。结论:对合并广泛蒙古斑的患儿行骨骼系统影像检查有助于MPS的早期诊断。合并广泛异常分布蒙古斑MPS患儿的骨骼系统X线表现包括椎体不同程度变尖、扁平椎、髂骨翼变圆、髂骨下段发育不全、髋外翻、髋关节发育不良、骨龄延迟、爪形手、掌骨近端变尖和尺桡骨远端呈V形变。

Objective:To investigate the skeletal X-ray manifestations of mucopolysaccharidoses(MPS)with extensive Mongolian spots in children.Methods:The distribution characteristics of Mongolian spots and X-ray findings of skeletal system were retrospective analyzed in 10 MPS patients.All patients performed anteroposterior and lateral radiographs of spine and the anteroposterior radiographs of the pelvis and left wrist.Results:Among the 10 patients,6 had extensive abnormal distribution of Mongolian spots,1 had superposed Mongolian spots limited to the sacrococcyx,and 3 had no accompanied Mongolian spots.All patients showed abnormal X-ray manifestations in skeletal system as follow.Different degrees of anterior vertebral tapering were found in 8 patients who were concomitant with flat vertebrae in 4 patients.the iliac wings roundness coexisted with the iliac lower segment hypoplasia,coxa valga,hip dysplasia,"Claw hand"deformity were observed in 8 patients respectively,delayed ossification in 4 patients,proximal metacarpal apical change in 9 patients,and V-shaped change at the distal ulna and radius in 6 patients.Conclusion:Skeletal X-ray of patients with extensive Mongolian spots could be helpful to early diagnose MPS.The X-ray characteristics of skeletal system of MPS patients with extensive Mongolian spots can be summarized as follows:tapering of vertebral bodies at different degrees,flattened vertebral bodies,rounded iliac wings,hypoplasia of iliac lower segment,coxa valga,hip dysplasia,delayed ossification,"Claw hand",bullet-shaped proximal metacarpals and V-shaped distal ulna and radius.