Management of osteogenesis imperfecta at the Chris Hani Baragwanath Hospital
Keywords:osteogenesis imperfecta, South Africa, intramedullary rodding, fractures, mobility
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 worldwide.
AIMS: To review the clinical presentation and management of fractures in children with OI.
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. Thirty-four patients were type III and 22 were type IV. Twenty patients (26%) had a first degree relative with OI The majority of patients received bisphosphonate (88%) and of these patients, 69 (93%) received intravenous bisphosphonate therapy; the remaining 7% 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 66 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. Of 27 patients with type III OI, 14 (52%) were walking at final follow-up - eight were walking with assistive devices and six (22%) were walking independently. Of 19 patients with type IV OI, 16 (84%) were walking at final follow-up - four were walking with an assistive device and 12 (63%) were walking independently.
CONCLUSION: An ongoing multidisciplinary approach to the management of children with OI is of paramount importance. There is an urgent need to improve the level of awareness of this rare condition among health professionals in order to facilitate prompt diagnosis and early referral.