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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
首頁 >> 黏多醣的骨骼問題 >> Diagnostic dilemma >> case 1
Case study 1: Julian
- Julian suffers from pain in his back, hips, and hands
- He has had back ache since he was 2 years old
- The pain in his hips started about five years ago
- Julian has also recently started to have pain in his hands
- The physician referred Julian for X-ray imaging of his spine and pelvis. In addition, the physician requested a number of laboratory tests
Patient file
Table 1: Patient characteristics and observations from physical examination
Age | 16 years |
---|---|
Height | 183 cm (90th percentile) |
Weight | 69 kg (75th percentile) |
Eyes | Signs of early posterior subcapsular cataract formation |
Cognitive function | Normal for age |
ECG/ECHO | Normal for age |
Nerve conduction test for carpal tunnel syndrome | Normal |
X-ray findings
Figure 1: Pelvis. Note the flattened appearance and the uncovered position of both femoral heads1 | Figure 2: Lateral spine. Note the anterior beaking of the thoracic and lumbar vertebral bodies1 |
- How do you interpret these findings?
- When examining these test results, would you consider a diagnosis of MPS?
Table 2: Medical examinations
Test | Results | Reference ranges2 |
---|---|---|
Pulmonary function test | Forced vital capacity = 85% Forced expiratory volume in 1s = 88% |
71.7 – 127.3% 75.8 – 128.2% |
6-min walk test | 570 m | 570 – 790 m |
Abdominal ultrasound | Liver and spleen: normal size | – |
- Reprinted from Molecular Genetics and Metabolism, volume 103;Gottwald I, Hughes J, Stewart F, Tylee K, Church H, Jones SA. ©2011, with permission from Elsevier.
- Li AM, et al. Am J Respir Crit Care Med 2007;176:174–180.