Congenital spondyloepiphyseal dysplasia due to COL2A1 gene mutation

Skeletal dysplasia is a rare genetic pathology that is a consequence of disorders of osteo-, chondrogenesis and other changes in the development and growth of epiphyseal cartilage, epiphyses, metaphyses, diaphyses of long bones and vertebral bodies, which leads to dysfunction of peripheral joints and spine in children. Aim - to familiarize with the features of the course, clinical manifestations and diagnosis of spondyloepiphyseal dysplasia (SED) with osteoarthritis and progressive osteoporosis in childhood. A clinical case of own observation of a child of adolescent age with complaints of difficulty walking, rapid fatigue, limping, starting pain in the joints, back during the day, limitation of function of the knee, hip, shoulder, elbow, radiocarpal joints, cervical spine, contractures of the elbow, radiocarpal joints is presented. In the presence of typical signs of the SED phenotype (short stature, specific facial features, rapid fatigue, limping, starting pain in the joints, back during the day, limitation of function of the knee, hip, shoulder, elbow, radiocarpal joints, cervical spine, contractures of the elbow, radiocarpal joints), no extraskeletal manifestations were detected in the child. During molecular genetic testing, a heterozygous variant in the COL2A1 gene (p.611G>A (p.Gly204Asp)) was identified in the patient, which is associated with bone disease and is characterized by the development of generalized osteoarthritis and systemic osteoporosis. Conclusions. Congenital spondyloepiphyseal dysplasia in childhood can occur under the guise of rheumatic diseases without obvious laboratory activity of the inflammatory process and early development of contractures, stiffness in the joints and progressive osteoporosis. Patients require a comprehensive examination using modern laboratory, instrumental and genetic examination methods and careful differential diagnosis and involvement of a multidisciplinary team of specialists for the management of such patients. The study was performed in accordance with the principles of the Declaration of Helsinki. Informed consent of the child's parents was obtained for the study. The authors declare that there is no conflict of interest.