黏多糖病Ⅰ型病人的X线表现

X-RAY MANIFESTATIONS OF TYPEⅠ MUCOPOLYSACCHARIDOSIS

目的探讨黏多糖病Ⅰ型病人的X线表现,提高其诊断水平。方法对20例临床最终诊断为黏多糖病Ⅰ型病人的影像资料进行回顾分析,全部病人均行X线检查,其中2例行脊柱MRI检查。结果本组病例均有不同程度的脊柱、椎体改变,其中腰椎喙状凸出18例,以L1～2椎体为著;脊柱后凸畸形13例。手指表现为指骨粗短,干骺端增宽,掌骨近端及指骨远端逐渐变细小呈弹头状,远节指骨远端变细呈蟹足状(5/8)。腕关节骨改变表现为尺桡骨远端关节面倾斜呈V形(2/8)。髋关节骨改变较少见,可见不同程度髋臼变浅平,股骨头骨骺变扁、外翻,或仅为髋臼增宽。结论本病X线表现较典型,尤以脊柱的L1～2椎体呈喙状、变小、后移,爪形手,尺桡骨远端呈V形排列最常见且特异,如遇到此类病人应建议进一步行实验室检查,以确定诊断。

Objective To study the radiographic characteristics of mucopolysaccharidosis （MPS）, and improve its diag- nostic level. Methods A retrospective analysis was done for clinical data of 20 patients confirmed with type IMPS, all had an X ray examination, of whom, two patients underwent additlonal spinal MRI. Results All of them showed various changes of vertebrae： beaklike protrusion of lumbar spine was found in 18 cases, especially of L1 2, and 13 with kyphosis. The manifesta tions of fingers were; tubbiness of bones of fingers, widening of metaphysis, the proximal metacarpus and distal end of digital bone became tapering as bullet shape, and distal phalanx appeared as crab-foot like （5/8）. The change of wrist joint was that the ulnora- dial articular surface appeared as V shape （2/8）. As for hip joints, different degree of shallowed acetabulum, flattened or ectropion of epiphysis of femur head, or only widening of acetabulum could be seen. Conclusion The X ray manifestations of this disease are relatively characteristic, especially the L1--2, showing as beaklike protrusion, growing down, retropositioning, clawhand and V shape alinement. If this kind of patients is met, further laboratory examinations are recommended for final diagnosis.