Surgical treatment in Osteogenesis Imperfecta - 10 years experience
I Georgescu1, C Vlad, T Ş Gavriliu
1Maria Sklodowska Curie Clinical Emergency Hospital for Children, Bucharest, Romania. ileana222@yahoo.com
Journal of Medicine and Life
|August 2, 2013
Summary
Surgical interventions for Osteogenesis Imperfecta (OI) in Romania have successfully enabled children with severe bone deformities to walk. This study highlights innovative orthopedic techniques improving quality of life and social integration for these patients.
Area of Science:
- Orthopedic Surgery
- Pediatric Orthopedics
- Rare Diseases
Background:
- Osteogenesis Imperfecta (OI) presents significant physical, social, and psychological challenges, leading to social isolation.
- Severe OI cases in Romania often involve complex bone deformities, rendering traditional orthopedic and surgical methods insufficient.
- Patients typically present with gracile, distorted long bones, pseudarthroses, and limb length discrepancies, frequently resulting in wheelchair dependency.
Purpose of the Study:
- To document the surgical treatment experience for moderate and severe Osteogenesis Imperfecta (OI) at a Bucharest hospital from May 2002 to May 2012.
- To evaluate the effectiveness of novel and adapted orthopedic techniques in improving mobility and quality of life for children with OI.
- To address the challenges in surgical reconstruction for severe, neglected OI cases, aiming for improved social integration.
Main Methods:
- Implantation of telescopic rods (e.g., Sheffield rods) in femur and tibia for osteoarticular regularization.
- Surgical correction of deformities using osteotomies, external fixators (circular or monoplane), and bone grafting techniques.
- Development and application of an original bone reconstruction procedure for large bone defects and diaphyseal thickening.
Main Results:
- 32 OI patients underwent 81 surgeries, with 28 benefiting from pelvic limb reconstructive surgery.
- Telescopic rods were implanted in 25 patients, and external fixators were used in 7 patients for deformity correction and lengthening.
- Postoperatively, 20 out of 32 operated patients achieved some level of independent or supported walking, including 8 who were previously wheelchair-bound.
Conclusions:
- Surgical treatment for severe OI requires individualized approaches, adapting established or innovative techniques.
- Successful surgical interventions can restore mobility, enabling patients to walk and significantly improving their quality of life and social integration.
- The study underscores the feasibility of treating severe, neglected OI cases, often deemed inoperable, through specialized orthopedic care.
