J Korean Orthop Assoc.  2004 Dec;39(7):825-829.

Joint Contracture and Radiologic Features in Mucopolysaccharidosis

• Shim JS
• Jin DK
• Park SJ
• Kim SM
• Ryu BD

Abstract

PURPOSE
To evaluate the clinical manifestations of contracted joints and the radiological features in mucopolysaccharidosis(MPS). MATERIALS AND METHODS: From January 1996 to March 2002, 15 children from a pool of children diagnosed with MPS through a fibroblast culture and an enzyme assay, who could tolerate a large umber of examinations, underwent orthopedic physical and radiological examinations. RESULTS: There were limitations in the abduction and internal rotation of the shoulder, extension limitation of the wrist, and internal rotation of the hip joint and flexion contractures of the elbow and DIP joints. Scoliotic deformities were all within the physiological curve. There were only three cases of a dorsolumbar kyphotic change and there were no neurological deficits due to the spinal deformities. The mean bone age was delayed compared with the mean chronological age. As the chronological age increased, the gap between the chronological age and the bone age increased. CONCLUSION: Joint contracture, which is the most severe symptom in orthopedic aspect, was more severe in the upper extremities than in the lower extremities. The spinal deformity was relatively mild and there were no neurological problems. The bone age tended to be delayed as the chronological age increased.

Keyword

Mucopolysaccharidosis; Joint contracture; Radiographic feature

MeSH Terms

Child
Congenital Abnormalities
Contracture*
Elbow
Enzyme Assays
Fibroblasts
Hip Joint
Humans
Joints*
Lower Extremity
Mucopolysaccharidoses*
Orthopedics
Shoulder
Upper Extremity
Wrist