Mobility in Hurler syndrome.
Hurler syndrome is an autosomal recessive metabolic storage disease. Hematopoietic stem cell transplant increases life expectancy, but the effects on associated musculoskeletal abnormalities remains unclear, and long-term data are limited. We detail the follow-up of 23 patients at a mean of 8.5 years after successful hematopoietic stem cell transplant. All patients underwent clinical examination at an annual multidisciplinary clinic. Serial radiological studies were reviewed to assess development and management of hip dysplasia and genu valgum. All patients demonstrated characteristic acetabular dysplasia and failure of ossification of the superolateral femoral head. Eight patients underwent bilateral pelvic and femoral derotation (mean age at surgery, 4.4 years); 4 patients had pelvic osteotomy only. Mean preoperative acetabular angle was 34 degrees. Genu valgum of variable severity due to failure of ossification of the lateral aspect of the proximal tibial metaphysis was observed early, and 6 patients underwent medial epiphyseal stapling, decreasing tibiofemoral angle by a mean of 8 degrees. Clinically, all patients were independently mobile, with restriction of internal hip rotation being the most significant clinical finding. Valgus knees and pronated feet were a typical finding. This cohort represents one of the largest available for study, and ongoing review will clarify the progression of musculoskeletal problems and determine the effectiveness of orthopaedic intervention.
Taylor
Colm
C
Department of Orthopaedic Surgery, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
Brady
Philip
P
O'Meara
Ann
A
Moore
David
D
Dowling
Frank
F
Fogarty
Esmond
E
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000601:surgery; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000209:etiology; D018380:Hematopoietic Stem Cell Transplantation; D006618:Hip Dislocation, Congenital / Q000209:etiology / Q000601:surgery; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000503:physiopathology / Q000628:therapy*; D011403:Pronation; D016059:Range of Motion, Articular