Abstract
Introduction: Therapeutic bone marrow transplantation has increased survival in Hurler syndrome, but the effects on musculoskeletal development remain unclear. Long term reports on mobility are poor, with many patients gradually losing walking ability in later childhood secondary to hip subluxation and joint contractures. As previous cohorts are small, data is limited.
Methods: We detail the follow up of twenty patients over a mean of 94 months (range 1 – 17.4 years). Radiographs were assessed for hip dysplasia using acetabular angle of Sharp, centre edge angle of Wiberg and tibiofemoral shaft angle. Clinical examination was performed at an annual multidisciplinary assessment by one clinician and compared against age matched controls. 3D gait analysis was performed on eight older children, and deviance in kinematic variables was plotted against controls with Mann-Whitney U test for statistical analysis.
Results: All patients demonstrated characteristic ace-tabular dysplasia. Fourteen patients have undergone containment surgery at a mean of 4.4 years. Innominate osteotomy is an essential part of this. Mean preoperative acetabular angle was reduced from 34 ± 4° to 22 ± 3°. Femoral head containment is maintained, with mean centre edge angle in older patients 39 ± 7°. Genu valgum is observed early, and five patients underwent medial epiphyseal stapling at a mean of 7.8 years, decreasing tibiofemoral angle by a mean of 8.0°. All patients are currently independently mobile, with restriction of internal hip rotation being the only significant clinical finding (P< 0.001). Joint contractures were not noted. Walking speed and stride length were comparable to controls, but endurance is reduced by about one quarter. Gait analysis demonstrates a characteristic pattern, with anterior pelvic tilt secondary to thoracolumbar gibbus, relative hip flexion throughout the gait cycle, valgus knees and compensatory pronated feet; all measured deviations were significant (P< 0.001).
Conclusions This large group maintained successful hip containment and good mobility throughout childhood. Innominate osteotomy alone has been used recently. Despite plain film appearance, genu valgum is a functional problem in gait, and we would anticipate greater use of corrective stapling in the future. This is the first report of gait analysis in Hurler syndrome, and features specific to the condition are described.
The abstracts were prepared by Emer Agnew, Secretary to the IOA. Correspondence should be addressed to him at Irish Orthopaedic Association Secretariat, c/o Cappagh National Orthopaedic Hospital, Finglas, Dublin 11, Ireland.
