E57 Osteogenesis imperfecta: about a series of twelve cases in Batna (Algeria)

Abstract

Abstract Introduction Osteogenesis imperfecta (OI), also known as glass bone disease, is a rare inherited disorder characterized by bone fragility and osteopenia. It combines skeletal signs of variable severity (mainly fractures, ligament hyperlaxity, dentinogenesis imperfecta and bone deformities), and inconsistent extra-skeletal signs (such as blue sclerae, deafness and vascular fragility). Aim To describe the epidemiologic, clinico-radiologic and therapeutic profile of OI in our department. Methods This is a retrospective study of 12 cases of OI collected in the department of Pediatrics of CHU Benflis Touhami Batna during a 6-year study period from 2014 to 2022. Results Twelve patients with OI were seen. Five patients were male and eight were female. The mean age at diagnosis was 6 years [1,16 years]. In 67% of cases, our patients were from a consanguineous marriages. Clinical signs were dominated by bone deformities with a history of multiple fractures following minimal trauma. Delayed weight-bearing was noted in five children; blue sclera was found in three children. Confirmation of the diagnosis was aided by radiological findings of diffuse bone demineralization, fracture lines, pelvic and limb deformity, cortical thinning, small ribs and biconcave compression of vertebrae. Bone densitometry showed osteoporosis in 70% of the patients and osteopenia in the rest. All patients were put on biophosphonates. Conclusion Osteogenesis imperfecta is a rare pathology, but it is serious, especially because of the functional disability it induces, hence the importance of an early diagnosis and prompt treatment.