Treatment challenge of osteogenesis imperfecta in resource-limited setting: insight from Ethiopia-a case report

Abstract Osteogenesis imperfecta is a rare hereditary disorder affecting connective tissue, resulting in bone fragility due to defects of collagen production. Type III Osteogenesis imperfecta is the most severe form, characterized by numerous bone fractures, skeletal deformities, triangular face, blue sclera, and issues with hearing and dental health. In resource-limited settings without access to confirmatory genetic studies, osteogenesis imperfecta is diagnosed through exclusion, primarily based on clinical evaluations and imaging studies. The management involves a multidisciplinary approach that includes proper diets such as, the supplementation of calcium and vitamin D along with physical activities and family education in settings where bisphosphonate therapy and specialized orthopedic management are not available. This case is noted for the uncommon occurrence of a sporadic type III osteogenesis imperfecta in neonate and challenge in diagnosis and management of osteogenesis imperfecta in resource limited settings like Ethiopia. Case presentation A 2-month-old male infant of Ethiopian descent presented with bilateral thigh swelling since 1 week of life. He has had also blue sclera and bilateral bowing of lower legs since the first day of life. Upon examination, the infant displayed blue sclera, a triangular face, and significant swelling in both thighs and the left arm, accompanied by bony prominence and crepitus upon palpation. Additionally, there was inward deviation of the lower legs bilaterally. The X-ray findings indicated a diffuse reduction in bone density, accompanied by multiple diaphyseal fractures of the long bones. These included bilateral fractures of the femoral shafts, a mid-radial shaft fracture in the left forearm, a fracture of the medial clavicle on the right side, and a periosteal reaction at the mid-tibial shaft on the right side. Additionally, there was abnormal anterior bowing of both tibias and the presence of wormian bones located at the lateral aspect of the base of the skull. The patient was diagnosed with presumptive sporadic type III OI and supplemented with oral cholecalciferol 400 international units daily. Advice was given to the mother on how to handle the infant properly to reduce fractures and the incurable nature of the illness. Conclusion This case report emphasizes that in resource-limited settings, where access to genetic confirmation and specialized implants is restricted, it is crucial to implement coordinated care. Key components include patient education, parental counseling, psychological evaluations for both the child and the parents, and continuous follow-up. These measures are essential for improving functional outcomes and enhancing quality of life.