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Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.

Publication ,  Journal Article
Veeravagu, A; Lad, SP; Camara-Quintana, JQ; Jiang, B; Shuer, L
Published in: World Neurosurg
2013

BACKGROUND: Spondyloepiphyseal dysplasia (SED) is a rare disease that causes vertebral abnormalities and short-trunk dwarfism. The two forms of SED are congenita and tarda. Each form arises in a genetically distinct fashion and manifests with a different set of complications. SED congenita is more severe, and patients usually display atlantoaxial instability and odontoid hypoplasia. Patients often have various neurologic deficits caused by compression of the spinal cord. The region most affected is the craniovertebral junction (CVJ). METHODS: A review of the PubMed Database, 1970 to the present, was performed using the search term "spondyloepiphyseal dysplasia" and limited to English-language articles. The search identified 22 articles discussing COL2A1 gene mutations and 10 clinical articles describing patients with SED and associated spinal abnormalities. RESULTS: Findings from the literature concerning diagnosis, presenting symptoms, and intervention taken are discussed. Additionally, a patient with a diagnosis of SED congenita who presented with bilateral hand numbness is described. The patient underwent a suboccipital craniotomy; posterior decompression of the foramen magnum, the arch of C1, and the lamina of C2; and instrumented fusion of C1-3 to relieve his symptoms. CONCLUSIONS: In this article, the authors survey the current literature surrounding neurosurgical interventions and present an algorithm for treatment.

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Published In

World Neurosurg

DOI

EISSN

1878-8769

Publication Date

2013

Volume

80

Issue

3-4

Start / End Page

437.e1 / 437.e8

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Tomography, X-Ray Computed
  • Recovery of Function
  • Osteochondrodysplasias
  • Neurosurgical Procedures
  • Male
  • Hypesthesia
  • Humans
  • Foramen Magnum
  • Decompression, Surgical
 

Citation

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ICMJE
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Veeravagu, A., Lad, S. P., Camara-Quintana, J. Q., Jiang, B., & Shuer, L. (2013). Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg, 80(3–4), 437.e1-437.e8. https://doi.org/10.1016/j.wneu.2012.01.030
Veeravagu, Anand, Shivanand P. Lad, Joaquin Q. Camara-Quintana, Bowen Jiang, and Lawrence Shuer. “Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.World Neurosurg 80, no. 3–4 (2013): 437.e1-437.e8. https://doi.org/10.1016/j.wneu.2012.01.030.
Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 2013;80(3–4):437.e1-437.e8.
Veeravagu, Anand, et al. “Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.World Neurosurg, vol. 80, no. 3–4, 2013, pp. 437.e1-437.e8. Pubmed, doi:10.1016/j.wneu.2012.01.030.
Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 2013;80(3–4):437.e1-437.e8.
Journal cover image

Published In

World Neurosurg

DOI

EISSN

1878-8769

Publication Date

2013

Volume

80

Issue

3-4

Start / End Page

437.e1 / 437.e8

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Tomography, X-Ray Computed
  • Recovery of Function
  • Osteochondrodysplasias
  • Neurosurgical Procedures
  • Male
  • Hypesthesia
  • Humans
  • Foramen Magnum
  • Decompression, Surgical