The clinical presentation and management of South African children with osteogenesis imperfecta

A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in partial fulfilment for the degree of Master of Medicine in Orthopaedic Surgery (MMed Orth) Johannesburg © 2015Background: Osteogenesis imperfecta (OI) is a genetically inherited metabolic bone disorder that results in multiple fractures and deformities in children. The treatment of OI has undergone tremendous improvement in the last two decades world-wide. Aims: To review the clinical presentation and management of fractures in children with osteogenesis imperfecta. Methods: A retrospective audit of patients treated for OI at Chris Hani Baragwanath Academic Hospital (CHBAH), from January 2000 to December 2011 was performed. Results: Seventy eight patients with OI were reviewed. The male to female ratio was 1:1.1. The median age at presentation was 20 months. The patients were classified according to the Sillence classification. The majority of patients were type III (49%) and type IV (29%). Twenty patients (26%) had a first degree relative with OI. All the patients received bisphosphonate and of these patients, 73 (94%) received intravenous bisphosphonate therapy and the remaining 6% received oral bisphosphonates. The most common long bone fractures were of the femur (93 fractures) and tibia (60 fractures). Sixty six long bones (49 patients) received intramedullary rodding (IM). The mean age at time of surgery was 7 years. The indication for osteotomy and IM rodding was fracture of the long bones. Fifty one long bones out of the sixty six long bones rodded (77%) underwent revision surgery for complications - 49% (25/51) had rod migration, 39% (20/51) had peri-implant fractures and 12% (6/51) had rod breakage. Conclusion: An ongoing multidisciplinary approach to the management of children with OI is of paramount importance. The prevalence of complications in those patients operated was high but compares favourably with the international literature. Use of elongating rods may further reduce the rate of re-rodding. There is an urgent need to improve the level of awareness of this rare condition amongst health professionals in order to facilitate prompt diagnoses and early referral.MT201