Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature

World Neurosurg. 2020 Jul:139:274-280. doi: 10.1016/j.wneu.2020.04.148. Epub 2020 Apr 25.

Abstract

Split cord malformation (SCM) is a developmental disorder that is usually symptomatic and diagnosed in childhood. The majority of these lesions are in the thoracic and lumbar spine, with only 1%-3% of cases found in the cervical spine. This is a case report of a 55-year-old female patient with an unremarkable medical history who presented with neck pain. Upon workup, she was found to have extensive developmental anomalies throughout her cervical and thoracic spine, including an incidentally found type 2 SCM and multiple autofused vertebrae. There are only 6 similar studies published in the literature. There was extensive facet degeneration in her cervical spine, which was suspected to be the etiology of her neck pain. This case illustrates the rare finding of asymptomatic adult cervical SCM and the likely significance of her autofused vertebrae causing accelerated symptomatic facet spondylosis.

Keywords: Diastematomyelia; Klippel–Feil anomaly; Split cord malformation; Vertebral fusion.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cervical Cord / abnormalities*
  • Cervical Vertebrae / abnormalities*
  • Female
  • Humans
  • Klippel-Feil Syndrome / pathology*
  • Middle Aged
  • Neural Tube Defects / pathology*