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- MPS disease information
黏多醣儲積症疾病的背景資料 - How GAG accumulation affects cartilage
黏多醣體-葡萄糖胺聚合醣儲積如何影響軟骨 - Hip dysplasia in MPS
黏多醣儲積症引起的髖關節發育不良 - Spinal deformities in MPS
黏多醣儲積症引起的脊椎變異 - Ribs and shoulders in MPS
黏多醣儲積症引起的肋骨和肩膀問題 - Hand and other bone deformities in MPS
手和其他骨骼異常 - Non-skeletal manifestations of MPS
黏多醣儲積症其他非骨骼系統的表徵 - Diagnostic dilemma
診斷難題
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Case study 2: John
- John’s parents took him to the doctor because he had been limping for a week and had complained of pain in his right knee1
- John did not have any recent trauma, fever, cough, rash, abdominal pain, diarrhea, numbness in the extremities or other joint pain
- John complained of tenderness in his groin region when he flexed his right hip
- John’s physician ordered the following laboratory tests: Complete blood count, serum electrolytes, calcium, magnesium and phosphorus levels, erythrocyte sedimentation rate, thyroid stimulating hormone, thyroxine, and growth hormone. All were normal.
Patient file
Table 1: Patient characteristics and observations from medical examination
Age | 6 years |
---|---|
Vital signs | Normal |
Height | 25th percentile |
Weight | <5th percentile |
Anterior drawer test | Negative |
McMurray test | Negative |
Trendelenburg test | Positive |
X-ray findings
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Figure 1: Radiograph of the hip and femur showing necrosis of the femoral head.1 |
- Rodrigues RG. Postgrad Med J 2003;79:179. Image used with permission from BMJ Group.
- Wenger DR and Pandya NK. J Pediatr Orthop 2011;31:S130–S136.