Thoracolumbar kyphosis in siblings of Mucopolysaccharidosis: A case report

Abstract

Mucopolysaccharidosis (MPS) is a group of inherited metabolic disorders caused due to abnormal storage of mucopolysaccharides in different tissues of the body. They are autosomal recessive disorders, except MPS II which has an X-linked recessive pattern. Musculoskeletal manifestations occur due to disturbance in bone remodeling and improper development of ossification centers. Thoracolumbar kyphosis is the most common spinal pathology resulting from abnormal vertebral end plate ossification and growth arrest as well as hypotonia and spinal musculature imbalance. The increased life span as a result of medical treatment and lack of osseous penetration of enzyme replacement has raised the issue of thoracolumbar dysplasia and resultant deformity. Here, we discuss a case report of progressive thoracolumbar spinal deformity in two siblings suffering from MPS who underwent spine deformity correction surgeries, and literature review for the same.