Brain, Vol. 119, No. 6, 1859-1872, 1996
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research-article |
Split cervical spinal cord with Klippel—Feil syndrome: seven cases
1Departments of Surgical Neurology London, UK 2Departments of Neuroradiology, The National Hospital for Neurology and Neurosurgery London, UK 3Departments of Neural Development Unit, Institute of Child Health, University of London London, UK 4Department of Neurosurgery, Great Ormond Street Children's Hospital London, UK
Correspondence to:
Correspondence to: Mr H. Alan Crockard, Department of Surgical Neurology, The National Hospital for Neurology Neurosurgery, Queen Square, London WCIN 3BG, UK
We report seven cases of rare high cervical split spinal cord associated with extensive vertebral fusions (Klippel—Feil anomaly). In light of previous embryological theories and recent research findings we attempt to explain the origin of split cord and vertebral fusions. Two distinctly separate mechanisms are suggested for the development of split cords observed in our cases: a midline lesion bisecting the neuroepithelium and the notochordal plate could be responsible for complete splitting of the cervical cord with anterior bony defect while a localized disturbance of cervical neural tube closure would account for cases with partial dorsal splitting of the cord with posterior vertebral defect.
Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. We confirm with our cases the frequent association of failure of normal segmentation and split cord in the cervical region. Clinically, only three patients had neurological deficit which was mild and has remained stable, and they had no radiological evidence of tethering; the minimal disproportionate growth of the cord and spine and the rarity of a bony spur in the cervical region are the likely reasons. A conservative policy was therefore pursued in these cases with careful long-term follow-up.
congenital malformations; vertebral fusion; diastematomyelia; embryogenesis; Pax genes
Received February 29, 1996. Revised May 29, 1996. Accepted July 9, 1996.