Surgical treatment of scoliosis in Treacher Collins syndrome: a case report

Journal of Medical Case Reports

Athanasios I Tsirikos¹  Nikolaos Bounakis¹  Christos Karampalis¹ 

[1] Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK

关键词: Treacher Collins syndrome;    Surgical treatment;    Scoliosis;    Posterior spinal fusion;   

Others  :  1180890
DOI  :  10.1186/1752-1947-8-446

 received in 2014-04-24, accepted in 2014-10-15,  发布年份 2014

【 摘 要 】

Introduction

Treacher Collins syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities. Scoliosis has not been previously reported as one of the extracranial manifestations of this syndromic condition.

Case presentation

We present a 15-year-old British Caucasian girl with Treacher Collins syndrome who developed a severe double thoracic scoliosis measuring 102° and 63° respectively. The deformity was noted at age 14 years by the local general practitioner and gradually progressed until she was referred to our service and subsequently was scheduled for surgical correction. There were no congenital vertebral anomalies. As part of the condition, she had bilateral conductive hearing impairment. She also had reduced respiratory reserves and a restrictive lung disease. Both curves were rigid on supine maximum traction radiographs. She underwent a single-stage anterior and posterior spinal arthrodesis with pedicle hook/sublaminar wire/screw and rod instrumentation and autologous rib graft, supplemented by allograft bone and made a good postoperative recovery. Her scoliosis was corrected to 25° and 24° and a balanced spine in the coronal and sagittal planes was achieved. At latest follow-up beyond skeletal maturity (3 years post-surgery) she had an excellent cosmetic outcome with no loss of deformity correction, no detected pseudarthrosis and a normal level of activities.

Conclusions

Scoliosis can occur in patients with Treacher Collins syndrome with the deformity demonstrating significant deterioration around the adolescent growth spurt. A high index of awareness will allow for an early diagnosis and scoliosis correction at a stage when this can be safer and performed through a single-stage posterior procedure. If the deformity is detected at a later age and stage of growth as occurred in our patient, more complex surgery is required and this increases the risk for major morbidity and potential mortality. Surgical treatment can correct the deformity, balance the spine and restore cosmesis, as well as prevent mechanical back pain and respiratory complications if the scoliosis progressed to cause severe thoracic distortion. A thorough preoperative assessment can diagnose associated comorbidities and reduce the risk for postoperative complications.

【 授权许可】

   
2014 Karampalis et al.; licensee BioMed Central.

【 图 表 】

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【 参考文献 】

• [1]Dixon MJ: Treacher Collins syndrome. Hum Molec Genet 1996, 5:1391-1396.
• [2]Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D: Mutations in gene encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature Genet 2011, 43:20-22.
• [3]Chang CC, Steinbacher DM: Treacher Collins syndrome. Semin Plast Surg 2012, 26(2):83-90.
• [4]Scully C, Langdon J, Evans J: Marathon of eponyms: 20 Treacher Collins syndrome. Oral Dis 2011, 17(6):619-620.
• [5]Collins ET: Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc U K 1900, 20:190-192.
• [6]Franceschetti A, Klein D: The mandibulofacial dysostosis; a new hereditary syndrome. Acta Ophthalmol (Copenh) 1949, 27(2):143-224.
• [7]Dixon MJ: Treacher Collins syndrome. J Med Genet 1995, 32(10):806-808.
• [8]Ochi H, Matsubara K, Ito M, Kusanagi Y: Prenatal sonographic diagnosis of Treacher Collins syndrome. Obstet Gynecol 1998, 91(5 Pt 2):862.
• [9]Crane JP, Beaver HA: Midtrimester sonographic diagnosis of mandibulofacial dysostosis. Am J Med Genet 1986, 25:251-255.
• [10]Terner JS, Travieso R, Chang C, Bartlett SP, Steinbacher DM: An analysis of mandibular volume in Treacher Collins syndrome. Plast Reconstr Surg 2012, 129(4):751e-753e.
• [11]Hansen M, Lucarelli MJ, Whiteman DAH, Mulliken JB: Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. Am J Med Genet 1996, 61:71-74.
• [12]Li C, Mernagh J, Bourgeois J: Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. Clin Dysmorph 2009, 18:63-68.