Abstract
Background. The scientific and clinical interest in the problems of osteogenesis imperfecta (OI) has grown in the last decade. However, the analysis of various variants of spinal pathologies in OI received insufficient attention.
The study aimed to analyze the current literature on various variants of the spinal pathology in patients with OI. OI is a phenotypically and genetically heterogeneous group of hereditary bone dysplasias. The spine pathology in OI is represented by scoliosis, kyphoscoliosis, anomalies of the craniovertebral junction, instability of the segments and fractures of the vertebral bodies, spondylolysis, and spondylolisthesis. Scoliosis and kyphoscoliosis are the most common forms of spinal pathology. In severe forms and at age 6 years, the prevalence of scoliosis can reach 89%. The exact mechanism of scoliosis formation in patients with OI is complex and incompletely defined. Anomalies of the craniovertebral junction are recorded in 37% of patients with OI and are determined in all four types of OI. Clinical manifestations of the craniocervical junction pathology can vary from asymptomatic to compression of the brainstem, restriction of cerebrospinal fluid circulation, leading to hydrocephalus, syringomyelia, and cranial nerve damage. The pathology of the lumbosacral spine is represented by spondylolysis and spondylolisthesis generally in the L5S1 segment in 5.3%10.9% of cases. The clinical significance and natural course of spondylolysis and spondylolisthesis in patients with OI are not fully defined in the literature, and the information on surgical indications and methods is available only in rare case reports. The changes in the axial skeleton in OI can lead to significant functional disability, pain, and potentially life-threatening complications, such as radicular neurological deficit, decrease in the ventilation capacity of the lungs, and cardiorespiratory complications. The overall severity of OI remains the best criterion for predicting the development of secondary spinal pathology. Given the generalization and heterogeneity of OI, an individual and multidisciplinary approach is necessary when diagnosing and planning the treatment strategy for this group of patients.