THE NATURAL HISTORY OF LOWER LIMB DEFORMITIES SEEN IN HURLER’S SYNDROME FOLLOWING BONE MARROW TRANSPLANTATION

Abstract

Introduction: The lower limb deformities in relation to hip dysplasia and genu valgum seen in Hurler’s Syndrome are well recognised. Bone marrow transplantation has improved the survival of patients with Hurler’s Syndrome, reversing many of the clinical features associated with it. This is of increasing importance because the musculoskeletal manifestations do not appear to be affected.

Methods: Between 1990 and 2003, 18 patients have been successfully engrafted and have been followed up for a mean of 6.8 years (range 18 months to 15 years) at Royal Manchester Children’s Hospital. We describe the lower limb problems and their management in these patients. We report on their skeletal development following successful transplant. Radiographic analysis was done using the following measurements where possible – acetabular index, centre-edge angle, migration percentage, femoral neck-shaft angle and tibio-femoral shaft angle.

Results: Of the 18 patients, one has had bilateral staged shelf acetabuloplasty and bilateral staged medial epiphyseal stapling (MES) of the upper tibia. The second patient has had bilateral upper tibial MES.

Discussion: There is very little in the literature on the long-term natural history of the orthopaedic manifestations of Hurler’s Syndrome after bone marrow transplantation. Presently there is no consensus as to the best management of the lower limb problems in this disorder. Well conducted long-term follow up is essential.