Introduction:
Smith-Magenis syndrome is a rare genetic condition associated with scoliosis in approximately 30% of cases. There is limited information in the literature on the treatment of scoliosis and the surgical outcome in patients with this condition. Characteristic features of the syndrome, such as the presence of congenital heart and renal disease, inherent immunodeficiency, as well as severe behavioural disorders may complicate the surgical treatment of patients.
Case presentation:
We present the case of an 11-year-old British Caucasian girl with Smith-Magenis syndrome who developed a severe, progressive thoracic and lumbar scoliosis measuring 85 degrees and 80 degrees , respectively. She had no cardiac or renal anomalies. Brace treatment was unsuccessful to prevent deterioration of the scoliosis. Both curves were rigid on supine maximum side-bending and traction radiographs. Our patient underwent a posterior spinal arthrodesis with pedicle screw/hook and rod instrumentation and autologous iliac crest graft, supplemented by allograft bone. She had an uneventful postoperative course other than the development of a small wound dehiscence which required resuturing with no signs of a wound infection. A good correction of both scoliotic curvatures to 45 degrees and 40 degrees and a balanced spine in both the coronal and sagittal planes was achieved. Follow-up to skeletal maturity (4 years post-surgery) showed no loss of deformity correction, no detected pseudarthrosis and a good clinical outcome.
Conclusion:
Patients with Smith-Magenis syndrome can develop a severe scoliosis that may require surgical treatment. Congenital cardiac and renal disease, immunodeficiency and severe behavioural problems can affect the surgical outcome following spinal arthrodesis and need to be taken into consideration. Our case demonstrates that surgical correction of the deformity can be performed safely on this group of patients, with a good outcome and an uncomplicated postoperative course.