Back to Physician Literature

Instability of the Cervical Spine and Neurological Involvement in Klippel-Feil Syndrome
A CASE REPORT*
BY J. E. HALL, M.D., E. D. SIMMONS, M.D., F.R.C.S.(C), K. DANYLCHUK, M.D., AND P. D. BARNES, M.D., BOSTON, MASSACHUSETTS
From the Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston

The clinical and pathological findings in patients who Klippel-Feil syndrome have been well documented ^3,5,6. The original classic triad of features was described by Klippel and Feil as a short neck, a low hairline posteriorly, and a restricted range of motion of the neck. Since then, other musculoskeletal defects, as well as genitourinary, auditory, cardiopulmonary, and neurological anomalies, have been found to be frequently associated with Kipple-Feil syndrome ^3,7-10. The various anomalies of cervical spine have been further characterized and defined ^3,7,8,10-12. Most patients who have this syndrome are first seen with restricted motion of the neck, torticollis, webbing  of the neck, or Sprengel deformity³.
Fig. 1-A                                     Fig. 1-B
Lateral radiographs made with the neck in flexion (Fig. I -A) and in extension (Fig. I -B) demonstrate the failure of segmentation between the vertebral bodies and the posterior elements at multiple levels, along with occipitalization of the atlas. The patient had congenital fusion from the first to the third and from the fourth to the seventh cervical vertebra. There is hypermobility between the third and fourth cervical vertebrae.

We are reporting on a patient who had Klippel-Feil syndrome with transient paresthesias and occasional weakness that was associated with active extension of the neck. The role of magnetic resonance imaging, done with dynamic flexion-extension of the cervical spine, in guiding treatment is described.

Case Report
A sixteen-year-old boy had Klippel-Feil syndrome that was associated with Sprengel deformity, a low hairline, a webbed neck, restricted motion of the neck, and facial asymmetry. The presenting complaint was the appearance of the webbed neck. Only on additional questioning did it become apparent that he had a six-month history of intermittent paresthesias radiating into both upper extremities when he extended the neck, as well as occasional episodes of weakness, which several times had caused him to collapse. All of these events appeared to be associated with active extension of the neck. Physical examination revealed findings of bilateral Sprengel deformity, a webbed neck with a low hairline, a markedly diminished range of motion of the cervical spine, pectus excavatum, and facial asymmetry with mandibular hyperplasia.

Fig. 2-A                                      Fig. 2-B
Sagittal proton-density magnetic-resonance images, made with the neck in flexion (Fig. 2-A) and in extension (Fig. 2-13), further delineate the discs, bodies, and ligamentous structures, as well as the spinal cord. Anterior impression on the cord is noted in both studies, and posterior impingement on the cord from buckling of a hypertrophied ligamentum flavurn is seen when the neck is extended. There is no evidence of Chiari malformation, diastematomyelia, or hydrosyringomyelia.

Active extension of the cervical spine reproduced the paresthesias in the upper extremities. No cardiac, genito-urinary, or auditory defects were found. The results of the neurological examination were normal. Radiographs of the cervical spine revealed congenital fusion from the first to the third cervical vertebra and from the fourth to the seventh cervical vertebra. Lateral radiographs that were made with the cervical spine in active flexion and extension showed eight millimeters of anterior displacement of the third on the fourth cervical vertebra (Figs. I-A and I-B). The sagittal diameter of the spinal canal was narrow, measuring eleven millimeters on the plain radiographs. Computerized tomography confirmed the presence of a narrow spinal canal, particularly in the sagittal plane.

Magnetic resonance imaging was done, with separate studies of the cervical spine in flexion and in extension, and they proved to be useful in planning surgical management (Figs. 2-A and 2-B). These studies showed evident areas of impingement on the spinal cord, both anteriorly and posteriorly, but posterior impingement was most severe when the neck was extended.

Fig. 3
The technique of fixation. Threaded Kirschner wires were passed through the bases of the spinous processes of the third and fourth cervical vertebrae. This was followed by figure-of-eight wiring with 16-gauge wire, as well as bone-grafting. The threaded Kirschner wires held the figure-of-eight wire and the bone graft in place and provided additional stability.

Preoperative studies of somatosensory evoked potentials revealed prolonged conduction times, indicative of moderately severe dysfunction of the white matter of the cervical spinal cord. Posterior decompression and arthrodesis of the third and fourth cervical vertebrae was done through a posterior midline exposure. Gross instability was found between the third and fourth cervical vertebrae. A small laminotomy was performed, and the markedly thickened ligamentum flavurn was excised. A posterior arthrodesis was done by passing threaded Kirschner wires through the bases of the spinous processes of the third and fourth cervical vertebrae, around which 16-gauge wire was woven in a figure-of-eight fashion (Fig. 3). Strips of corticocancellous and cancellous bone were obtained from the posterior part of the ilium and were packed over the posterior arches of the third and fourth cervical vertebrae. Somatosensory evoked potentials, which were monitored throughout the operation, did not change.

The postoperative course was uneventful. The patient wore a neck brace for twelve weeks. Radiographs revealed the fusion to be well consolidated at that time, and bracing was discontinued. Eighteen months postoperatively, the neurological symptoms had not recurred.

Discussion
A correlation between congenital abnormalities of the cervical and thoracic spine and neurological deficits was reported in 1901⁵ , and in 1912 Klippel and Feil described the syndrome that bears their names.

The presenting neurological symptoms of Klippel-Feil syndrome may include radiculopathy, myelopathy, or quadriplegia⁷. The neurological deficit may be caused by spondylosis or hypermobility of unfused segments of the cervical spine adjacent to the fused segments, which results in mechanical pressure on the spinal cord or nerve roots; by congenital malformation of the spinal cord; or by vascular disorders ^1,7,9.

The risk of neurological injury, ranging from minor symptoms to complete quadriplegia, has been discussed by many authors ^2,4,12 . We agree with Elster that all patients who have Klippel-Feil syndrome should be thoroughly screened for instability of the cervical spine and that prophylactic arthrodesis of any unstable segment or segments should be considered. Radiographs with the cervical spine in flexion and extension provide the basic information on the location and severity of the hypermobility, and magnetic resonance imaging of the cervical spine in flexion and extension can give precise information on where and by what mechanism the neurological compression is occurring.

Our patient had a history of intermittent neurological symptoms associated with extension of the cervical spine, and he had abnormal preoperative somatosensory potentials. Although magnetic resonance imaging revealed both anterior and posterior impingement of the spinal cord, the posterior impingement by the hypertrophied ligamentum flavum was more severe. The clinical finding that the neurological symptoms were reproduced by extension of the cervical spine, and not by flexion, was correlated with the results of the imaging studies; this formed the basis for the decision to do a posterior decompression and arthrodesis.

* No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study.

References
1. BORN, C. T.; PETRIK, MARK; FREED, MICHAEL; and DELONG, W. G_ JR.: Cerebrovascular Accident Complicating Klippel-Feil Syndrome. A Case Report. J. Bone and Joint Surg., 70-A: 1412-1415, Oct. 1988.
2. ELSTER, A. D.: Quadriplegia after Minor Trauma in the Klippel-Feil Syndrome. A Case Report and Review of the Literature. J. Bone and Joint Surg., 66-A: 1473-1474, Dec. 1984.
3. HENSINGER, R. N.; LANG, J. E.: and MAcEWEN, G. D.: Klippel-Feil Syndrome. A Constellation of Associated Anomalies. J. Bone and Joint Surg., 56-A: 1246-1253, Sept. 1974.
4. HERRING, J. A., and BUNNELL, W. P.: Instructional Case, Klippel-Feil Syndrome with Neck Pain. J. Pediat. Orthop., 9: 343-346, 1989.
5. HOM12N, E. A.: Zur Kenntniss der rhachitischen(?) Deformationen der Schddelbasis und de basalen Schddelhyperostosen. Deutsche Zeitschr. Nervenheilk., 20: 3-28, 1901.
KLIPPEL, M., and FEIL, ANDRE: Un cas d'absence des vert6res cervicales. Avec cage thoracique remontant jusqu'A la base du crane (cage thoracique cervicale). Nouv. Inconog. Saltp&rife, 25: 223-250, 1912.
7. MICHIE, L, and CLARK, M.: Neurological Syndromes Associated with Cervical and Craniocervical Anomalies. Arch. Neurol., 18: 241-247, 1968.
8. NAGIB, M. G.; MAXWELL. R. E.; and CHOU, S. N.: Identification and Management of High-Risk Patients with Klippel-Feil Syndrome. J. Neurosurg., 61: 523-530, 1984.
9. PRUSICK, V. R.; SAMBERG, L. C.; and WESOLOWSM, D. P.: Klippel-Feil Syndrome Associated with Spinal Stenosis. A Case Report. J. Bone and Joint Surg., 67-A: 161-164, Jan. 1985.
10. SHERK, H. H., and DAWOUD. SAMIR: Congenital Os Odontoideum with Klippel-Feil Anomaly and Fatal Atlanto-Axial Instability. Report of a Case. Spine, 6: 42-45, 1981.
11. SHERK, H. H., and NICHOLSON, J. T.: Cervico-Oculo-Acusticus Syndrome. Case Report of Death Caused by Injury to Abnormal Cervical Spine. J. Bone and Joint Surg., 54-A: 1776-1778, Dec. 1972.
12. STRAX, T. E., and BARAN, ERNEST: Traumatic Quadriplegia Associated with Klippel-Feil Syndrome: Discussion and Case Reports. Arch. Phys. Med. and Rehab., 56: 363-365, 1975.