Abstract
IntroductionSmith-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 presentationWe 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° and 80°, 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° and 40° 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.ConclusionPatients 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.
Highlights
Smith-Magenis syndrome is a rare genetic condition associated with scoliosis in approximately 30% of cases
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
Smith-Magenis syndrome is a rare syndromic condition associated with an interstitial deletion of the short arm of chromosome 17 (17p11.2) containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1
Summary
Scoliosis is a common manifestation of Smith-Magenis syndrome with a reported prevalence of 30-65% [5,6]. Regular screening of this group of patients is recommended so that an early diagnosis can be made and a severe scoliotic deformity may be avoided. Our report has demonstrated that scoliosis correction can be achieved safely with no increased risk of intra- or postoperative complications. Authors’ contributions AT was involved in the conception and design, analysis of the data, preparation of the manuscript, final approval of the version to be published. AB did the data analysis, and the preparation of the manuscript. All authors have read and approved the final manuscript. Competing interests The authors declare that they have no competing interests
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