Progressive Early-onset Scoliosis in Conradi Disease

Abstract

Conradi-Hunermann syndrome (CHS) is a rare metabolic syndrome with several orthopaedic problems. Early-onset scoliosis is of great importance because of often rapidly progressive nature and high risk of postoperative complications. To report the 34-year follow-up and outcome of a patient with CHS treated with combined anterior and posterior fusion without instrumentation. All available clinical and radiographs of a female patient with CHS retrospectively reviewed. Overall health status, sagittal and coronal deformity, pulmonary function test, and outcome questionnaires were evaluated. Initial films at the age of 4 months showed a curve of 37 degrees from T6-T11 and a curve of 17 degrees from T11-L2. Thoracic kyphosis was measured at 43 degrees. Standing films at the age of 2 years and 2 months showed progression of both the curves to 50 and 66 degrees, respectively, and a significant spinal imbalance. The kyphosis also progressed to 57 degrees. She underwent a staged anterior inlay graft spinal fusion with autograft and allograft ribs from T8-L1 and posterior in situ fusion from T6-L1 with corticocancellous allograft. Solid radiographic fusion was observed 18 months after surgery. She was 36 years old at her latest follow-up, 34 years after surgery, with neutral clinical coronal and sagittal balance. No significant pain and respiratory complaint at moderate sports and normal daily life activity. "Vital capacity" and "total lung capacity" were 65% and 75%, respectively, of the normal. Thoracic curve of 35 degrees (T6-T11) and right thoracolumbar curve of 53 degrees from T11-L2 with a solid fusion fromT6-L1 with kyphosis measured over the fused area of 40 degrees were observed. Her overall mean Scoliosis Research Society-22 score was 3.68. She is an MBA graduate from a competitive school and currently works full-time. Although the treatment of early-onset scoliosis has significantly evolved over the past 3 decades, the traditional method of anterior release and fusion and staged in-situ posterior fusion posterior fusion with postoperative immobilization showed acceptable deformity correction and maintenance of the pulmonary function over the 34 years.