Loading
- 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
首頁 >> 黏多醣的骨骼問題 >> Diagnostic dilemma >> case 3
Case study 3: Shawn
- Shawn’s parents took him to the clinic because he had acquired a waddling way of walking and was complaining of pain in his hips and calves
- During the consultation, his parents told the physician that in infancy Shawn had suffered from repeated vomiting and problems with sucking and chewing. Developmental delays in speech and cognition had subsequently been identified
- The physician conducted a physical examination and then referred Shawn for a hip X-ray and a neurologic consultation
Patient file
Table 1: Patient characteristics and observations from physical examination
Age | 10 years |
---|---|
Tendon reflexes | Absent throughout. Sensation and strength preserved |
Other observations | Bilateral pes cavus Trendelenburg gait Difficulty maintaining balance and poor ability to hop |
X-ray findings
|
||
Figure 1: Pelvis. Note acetabular dysplasia, coxa valga, and moderate to severe superolateral subluxation of both femoral heads, with findings more pronounced on the left. The acetabular angle is 58°, which is wide compared to the normal value of less than 42° for children aged 101 |
- Bamford NS, et al. Dev Med Child Neurol 2009;51:408–411.
- White KK and Harmatz P. J Ped Rehab Med 2010:47–56.