Surgical treatment in Osteogenesis Imperfecta – 10 years experience

Introduction. Osteogenesis imperfecta (OI) is a very rare disease compared to other afflictions, running the risk of social isolation for children and their parents, due to the problems specific to the disease. All the social, psychological and physical disadvantages must be removed or at least mitigated, all within the society’s limited resources. In Romania, this situation has led in the last couple of years to the selection of a number of extremely severe cases, which could not be solved by orthopedic and classic surgical treatment methods. These patients exhibit gracile long bones, which are distorted, often with cystic degeneration at the level of the extremities, pseudarthroses, limb length discrepancies, most of them being unable to walk, being condemned to sitting in a wheelchair. Aim. This paper deals with the experience of the Orthopedics Department of "Maria Sklodowska Curie" Clinical Emergency Hospital for Children, in Bucharest, in the field of surgical treatment for moderate and severe forms of OI, within the time frame of May 2002-May 2012. For the first time in Romania, on May 20, 2002, the team led by Professor Gh. Burnei, MD, has implanted telescopic rods in the femur and tibia of a patient with OI. One of the most important themes, of great interest in the orthopedic surgery, is the osteoarticular regularization and reconstruction in severe forms of OI, which should allow the patients to stand and walk. These cases are a challenge for the surgeon, who is in the position of applying new, complex procedures, or perfecting, modifying and adapting techniques that have already been established. The aim of the surgical treatment is the increase of the quality of life of these children and adolescents and of their social integration. Methods and results. In the above-mentioned period, from the OI patients who are in the evidence of our clinic, 32 were operated on, totaling 81 surgeries. Out of these, 28 patients, aged 2-27 years, have benefited from reconstructive surgery of the pelvic limbs. Sofield-Millar osteotomies were practiced and 69 Sheffield telescopic rods were implanted in 25 patients and 43 surgeries. The coxa vara / valga correction using the Sheffield rod was applied in 6 patients and 8 hips, respectively. Circular or monoplane external fixators were used in 7 patients for the correction of deformities, lengthening and arthrodiastasis. 9 patients have benefited from various forms of bone transplant: pedicled grafts, auto- and/or allografts. An original bone reconstruction procedure is currently being studied and will be useful in the treatment of large bone defects and the thickening of the gracile diaphyses, which consists in practice of a massive contribution of free bone grafts, auto- and/or allogenic, bone substitutes and, in selected cases, periosteal substitutes, in a composite stratified construction. Postoperatively, 15 patients are able to walk while being supported by crutches or walking frames, 5 patients walk independently and 8 are still wheelchair-bound. It is important to mention that 8 children who were preoperatively dependant on the wheelchair are now walking! Discussion. The surgical treatment in severe forms of OI must be adapted to each case. No matter the surgical technique used, well known or innovative, it is convenient if it restores the ability to walk of a youngster who has been forced to use a wheelchair for almost 20 years and who has suffered dozens of unsuccessful surgeries. The current paper mainly describes the difficulties the surgeon has to deal with while treating the severe, neglected cases of OI, sometimes incorrectly cared for and labeled as inoperable.