medigraphic.com
SPANISH

Cirugía de Columna

ISSN 2992-7749 (Electronic)
ISSN 2992-7897 (Print)
Órgano Oficial de difusión científica de la Asociación Mexicana de Cirujanos de Columna A. C. y de la Sociedad Iberolatinoamericana de Columna. SILACO.

Indizada en:

Scielo
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
    • Send manuscript
  • Políticas
    • Políticas éticas
    • Políticas de acceso abierto
    • Políticas de revisión de manuscritos
    • Políticas editoriales generales
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2026, Number 3

<< Back Next >>

Cir Columna 2026; 4 (3)

Early-onset scoliosis secondary to neurofibromatosis type 1: a case report and literature review

Barraza-Silva JA, Villegas-Esquivel EL, Munguía-León LM, Vilchis-Sámano H
Full text How to cite this article 10.35366/122796

DOI

DOI: 10.35366/122796
URL: https://dx.doi.org/10.35366/122796

Language: Spanish
References: 14
Page: 246-251
PDF size: 1119.08 Kb.


Key words:

scoliosis, neurofibromatosis type 1, arthrodesis, COVID-19.

ABSTRACT

Introduction: early-onset scoliosis involves a curvature greater than 10° in the spinal coronal plane occurring before age 10. This condition has various etiologies, including idiopathic, neuromuscular, congenital, and syndromic causes. Neurofibromatosis Type 1 (NF1) is among the most common syndromic causes of scoliosis, with an estimated 10% to 30% of individuals with NF1 developing this condition. Objective: to present a case of scoliosis secondary to neurofibromatosis and review the literature regarding its clinical management, epidemiology, and current treatment strategies. Case report: we report the case of a 10-year-old female diagnosed with neurofibromatosis type 1 (NF1) who presented with severe dorsal pain rated 8/10 on a numeric analog scale and a dorsolumbar deformity. A physical examination revealed right-convex thoracic scoliosis with a positive Adams test. Spine radiographs showed a main thoracic scoliosis with a Cobb angle of 28° and a lumbar curvature of 8.7°. A brace was initially prescribed for conservative management; however, after six months, curvature progression to 36° was noted. Growth rods were subsequently placed, achieving a Cobb angle of 7° in the thoracic curvature. The patient underwent two subsequent lengthenings but lost follow-up due to the COVID-19 pandemic. Two years later, follow-up resumed, leading to an instrumented posterior fusion from T1 to L5, resulting in a residual thoracic curvature of 19°. Conclusions: scoliosis in neurofibromatosis type 1 can progress rapidly. A combined approach of bracing, growth rods, and fusion is crucial for effective management and stabilization of the spine.


REFERENCES

  1. El-Hawary R, Akbarnia BA. Early onset scoliosis - Time for consensus. Spine Deform. 2015; 3: 105-106. doi: 10.1016/j.jspd.2015.01.003.

  2. Williams BA, Matsumoto H, McCalla DJ, Akbarnia BA, Blakemore LC, Betz RR, Vitale MG, et al. Development and initial validation of the Classification of Early-Onset Scoliosis (C-EOS). J Bone Joint Surg. 2014; 96: 1359-1367. doi: 10.2106/JBJS.M.00253.

  3. Uusitalo E, Leppavirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015; 135: 904-906. doi: 10.1038/jid.2014.465.

  4. Wang D, Zhang B han, Wen X, Chen KH, Xiao HT, Xu XW, et al. Clinical features and surgical treatments of scoliosis in neurofibromatosis type 1: a systemic review and meta-analysis. Eur Spine J. 2024; 33:2646-2665. doi:10.1007/s00586-024-08194-w.

  5. Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1). Handb Clin Neurol. 2013; 115: 939-955. doi: 10.1016/B978-0-444-52902-2.00053-9.

  6. Jain VV., Lykissas MG, Crawford AH. Neurofibromatosis. In: The Growing Spine. Springer Berlin Heidelberg; 2016: 265-291. doi: 10.1007/978-3-662-48284-1_16.

  7. Durrani AA, Crawford AH, Chouhdry SN, Saifuddin A, Morley TR. Modulation of spinal deformities in patients with neurofibromatosis type 1. Spine (Phila Pa 1976). 2000; 25: 69. doi: 10.1097/00007632-200001010-00013.

  8. Shi BL, Li Y, Zhu ZZ, Mao SH, Liu Z, Sun X, et al. Curve evolution during bracing in children with scoliosis secondary to early-onset neurofibromatosis type 1: indicators of rapid curve progression. Chin Med J (Engl). 2021; 134: 1983-1987. doi: 10.1097/CM9.0000000000001606.

  9. Neifert SN, Khan HA, Kurland DB, Kim NC, Yohay K, Segal D, et al. Management and surgical outcomes of dystrophic scoliosis in neurofibromatosis type 1: a systematic review. Neurosurg Focus. 2022; 52: E7. doi: 10.3171/2022.2.FOCUS21790.

  10. Dubousset J, Herring JA, Shufflebarger H. The crankshaft phenomenon. J Pediatr Orthop. 1989; 9: 541-550. doi: 10.1097/01241398-198909010-00008.

  11. Murphy RF, Mooney JF. The crankshaft phenomenon. J Am Acad Orthop Surg. 2017; 25: e185-e193. doi: 10.5435/JAAOS-D-16-00584.

  12. Tauchi R, Kawakami N, Suzuki T, et al. Comparison of early definitive fusion and traditional growing rods in early-onset dystrophic scoliosis in neurofibromatosis type 1: a preliminary report. J Pediatr Orthop. 2020; 40: 569-574. doi: 10.1097/BPO.0000000000001579.

  13. Cai S, Cui L, Qiu G, Shen J, Zhang J. Comparison between surgical fusion and the growing-rod technique for early-onset neurofibromatosis type-1 dystrophic scoliosis. BMC Musculoskelet Disord. 2020; 21: 455. doi: 10.1186/s12891-020-03460-6.

  14. Flynn JM, Tomlinson LA, Pawelek J, Thompson GH, McCarthy R, Akbarnia BA. Growing-rod graduates: lessons learned from ninety-nine patients who completed lengthening. J Bone Joint Surg. 2013; 95: 1745-1750. doi: 10.2106/JBJS.L.01386.




Figure 1
Figure 2
Figure 3

2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Cir Columna. 2026;4