Preview

Bulletin of Siberian Medicine

Advanced search

Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1

https://doi.org/10.20538/1682-0363-2010-6-34-40

Abstract

To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.

Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade scoliosis associated with neurofibromatosis.

Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella. Migration of cells carrying mutant gene into one of the sclerotome zones results in oncogene activation and intensive proliferation of chondro-, osteo-, and fibroblasts in the growth plate, intervertebral disc, and vertebral body.

Progressive development of the spinal deformity after surgical intervention is accounted both for proliferation of chondro- and fibroblasts in the vertebral body and intervertebral disc and for disturbance of the NF-1 and lumican genes expression.

About the Authors

A. M. Zaidman
http://www.niito.ru
Новосибирский НИИ травматологии и ортопедии Росмедтехнологий
Russian Federation


M. V. Mikhailovsky
Новосибирский НИИ травматологии и ортопедии Росмедтехнологий
Russian Federation


Ye. L. Zaviyalova
Новосибирский НИИ травматологии и ортопедии Росмедтехнологий
Russian Federation


V. A. Suzdalov
Новосибирский НИИ травматологии и ортопедии Росмедтехнологий
Russian Federation


M. A. Sadovoy
Новосибирский НИИ травматологии и ортопедии Росмедтехнологий
Russian Federation


References

1. Белоусов Л.В. Введение в общую эмбриологию. М.: МГУ, 1980. 216 с.

2. Кнорре А.Г. Эмбриональный гистогенез. Л.: Медицина, 1971. 431 с.

3. Корочкин Л.И. Взаимодействие генов в развитии. М.: Наука, 1977.

4. Aegeter E. The possible relation-ship of neurofibromatosis, congenital pseudoarthrosis and fibrous dysplasia // J. Bone Joint. Surg. 1950. V. 32. 618 p.

5. Akbarnia B.A., Gabriel R.R., Beckman E., Chal D. Prevalence of scoliosis in neurofibromatosis // Spine. 1992. V. 17. P. 244—248.

6. Betz R.R., Iorio Lombardi A.V., Clancy M., Steel H.H. Scoliosis surgery in neurofibromatosis // Clin. Orthop. 1989. V. 245. P. 53—56.

7. Biesecker L.G. The multifaceted challenges of Proteus syndrome // JAMA. 2001. V. 285. P. 2240—2243.

8. Bunyatov R. Clinical roentgenographic characteristics of scoliosis in neurofibromatosis // Pediatrics. 1983. V. 5. P. 49— 51.

9. Calvert P.T., Edgar M.A., Webb P.J. Scoliosis in neurofibromatosis. Natural history without operation // J. Bone Joint. Surg. 1989. V. 71. P. 246—251.

10. Cawthon R.M., Weiss R., Xu G.F. et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations // Cell. 1990. V. 62. P. 193—201.

11. Chaglassian J.H., Ristborough E.J., Hall J.E. Neurofibromatous scoliosis // J. Bone Joint. Surg. 1976. V. 58. P. 695— 702.

12. Cnossen M.N., de Goede-Bolder A., van den Broek K.M. et al. A prospective 10 years follow up study of patients with neurofibromatosis type 1 // Arch. Dis. Child. 1998. V. 78. P. 408—412.

13. Crawford A.H. Neurofibromatosis // The pediatric spine / Weinstein S.L. (ed.). New York: Raven Press, 1994. P. 619—649.

14. Crawford A.H. Neurofibromatosis // The pediatric spine: principles and practice, 2nd edn. / Weinstein SL (ed.) Philadelphia: Lippincott Williams & Wilkins, 2001. P. 471—490.

15. Durrani A., Crawford A.H., Choudhry S.N. et al. Modulation of spinal deformities in patients with neurofibromatosis type 1 // Spine. 2000. V. 25. P. 69—75.

16. Flood B.M., Butt W.P., Dickson R.A. Rib penetration of the intervertebral foraminae in neurofibromatosis // Spine. 1986. V. 11. P. 172—174.

17. Funasaki H., Winter R.B., Lonstein J.B., Denis F. Pathophysiology of spinal deformities in neurofibromatosis // J. Bone Joint. Surg. 1994. V. 76. P. 692—700.

18. Goldberg N.S., Collins F.S. The hunt for the neurofibromatosis gene // Arch. Dermatol. 1991. V. 124. P. 1701—1707.

19. Goldberg N.S., Collins F.S. The hunt for the neurofibromatosis gene // Arch. Dermatol. 1991. V. 127. P. 1705—1709.

20. Kim H.W., Wienstein S.L. Spine update: the management of scoliosis in neurofibromatosis // Spine. 1997. V. 22. P. 2770—2776.

21. North K. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic // J. Child. Neurol. 1993. V. 8. P. 395—402.

22. Sirois J.L., Drennan J.C. Dystrophic spinal deformity in neurofibromatosis // J. Pediatr. Orthop. 1990. V. 10. P. 522—526.

23. Tsirikos A.I., Saifuddin A., Noordeen M.H. Spinal deformity in neurofibromatosis type 1: diagnosis and treatment // Eur. Spine J. 2005. V. 14. P. 427—439.

24. Vitale M. J., Juha A., Skaggs D.J. Opthodaedic manifestation of neurofibromatosis in children: update // Clin. Orthop. 2002. V. 401. P. 107—118.


Review

For citations:


Zaidman A.M., Mikhailovsky M.V., Zaviyalova Ye.L., Suzdalov V.A., Sadovoy M.A. Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1. Bulletin of Siberian Medicine. 2010;9(6):34-40. (In Russ.) https://doi.org/10.20538/1682-0363-2010-6-34-40

Views: 485


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1682-0363 (Print)
ISSN 1819-3684 (Online)