Copyright 1990 by The Journal of Bone and Joint Surgery.

incorporated

Instability of the Cervical Spine and

Neurological Involvement in Klippel-Feil Syndrome
A CASE REPORT*

BY J. E. HALL, M.D.t, E. D. SIMMONS, M.D., F.R.C.S.(C)1, K. DANYLCHUK, M.D.,

AND P. D. BARNES, M.D.t, BOSTON, MASSACHUSETTS

!rom the Department of Orthopaedic Surgery, Children’s Hospital, Harvard Medical School, Boston
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The clinical and pathological findings in patients who Klippel-Feil syndrome3710. The various anomalies of the
have Klippel-Feil syndrome have been well docu- cervical spine have been further characterized and de-
mented35’6. The original classic triad of features was de- fined378’#{176}’2. Most patients who have this syndrome are first
scribed by Klippel and Feil as a short neck, a low hairline seen with restricted motion of the neck, torticollis, webbing
posteriorly, and a restricted range of motion of the neck. of the neck, or Sprengel deformity3.

FIG. 1-A FIG. 1-B

Lateral radiographs made with the neck in flexion (Fig. 1-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.

Since then, other musculoskeletal defects, as well as genito- We are reporting on a patient who had Khippel-Feil
urinary auditory
, , cardiopulmonary , and neurological anom- syndrome with transient paresthesias and occasional weak-
alies, have been found to be frequently associated with ness that was associated with active extension of the neck.
* No benefits in any form have been received or will be received from The role of magnetic resonance imaging, done with dynamic
a commercial party related directly or indirectly to the subject ofthis article. flexion-extension of the cervical spine, in guiding treatment
No funds were received in support of this study.
t Children’s Hospital, 300 Longwood Avenue, Boston, Massachu-
is described.
setts 02115.
1: Buffalo General Hospital, 50 High Street, Suite 805, Buffalo, New Case Report
York 14203. Please address requests for reprints to Dr. Simmons.
§ Asheville Veterans Administration Hospital, I 100 Tunnel Road, A sixteen-year-old boy had Klippel-Feil syndrome that was associated
Asheville, North Carolina 28805. with Sprengel deformity, a low hairline, a webbed neck, restricted motion

460 THE JOURNAL OF BONE AND JOINT SURGERY

 INSTABILITY OF THE CERVICAL SPINE AND NEUROLOGICAL INVOLVEMENT 461

Fio. 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-B), 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 flavum is seen when the neck is extended. There is no evidence of Chiari malformation,
diastematomyelia. or hydrosyringomyelia.

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 di-
minished range of motion of the cervical spine. pectus excavatum, and
facial asymmetry with mandibular hyperplasia.
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. Radio-
graphs 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 pos-
teriorly, but posterior impingement was most severe when the neck was
extended.
Preoperative studies of somatosensory evoked potentials revealed pro-
longed 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 flavum was excised. A posterior ar-
throdesis was done by passing threaded Kirschner wires through the bases
of the spinous processes of the third and fourth cervical vertebrae, around
FIG. 3
which 16-gauge wire was woven in a figure-of-eight fashion (Fig. 3).
Strips of corticocancellous and cancellous bone were obtained from the The technique of fixation. Threaded Kirschner wires were passed through
the bases of the spinous processes of the third and fourth cervical vertebrae.
posterior part of the ilium and were packed over the posterior arches of
This was followed by figure-of-eight wiring with 16-gauge wire, as well
the third and fourth cervical vertebrae. Somatosensory evoked potentials, as bone-grafting. The threaded Kirschner wires held the figure-of-eight
which were monitored throughout the operation, did not change. wire and the bone graft in place and provided additional stability.

VOL. 72-A, NO. 3. MARCH 1990

462 J. E. HALL, E. D. SIMMONS, K. DANYLCHUK, AND P. D. BARNES

The postoperative course was uneventful. The patient wore a neck who have Klippel-Feih syndrome should be thoroughly
brace for twelve weeks. Radiographs revealed the fusion to be well con-
screened for instability of the cervical spine and that pro-
solidated at that time, and bracing was discontinued. Eighteen months
phylactic arthrodesis of any unstable segment or segments
postoperatively, the neurological symptoms had not recurred.
should be considered. Radiographs with the cervical spine
Discussion in flexion and extension provide the basic information on
A correlation between congenital abnormalities of the the location and severity of the hypermobility, and magnetic
cervical and thoracic spine and neurological deficits was resonance imaging of the cervical spine in flexion and ex-
reported in h90l, and in 1912 Khippeh and Feil described tension can give precise information on where and by what
the syndrome that bears their names. mechanism the neurological compression is occurring.
The presenting neurological symptoms of Khippeh-Feih Our patient had a history of intermittent neurological
syndrome may include radicuhopathy, myelopathy, or symptoms associated with extension of the cervical spine,
quadriplegia7. The neurological deficit may be caused by and he had abnormal preoperative somatosensory potentials.
spondylosis or hypermobility of unfused segments of the Although magnetic resonance imaging revealed both ante-
cervical spine adjacent to the fused segments, which results nor and posterior impingement of the spinal cord, the pos-
in mechanical pressure on the spinal cord or nerve roots; tenor impingement by the hypertrophied ligamentum flavum
by congenital malformation of the spinal cord; or by vascular was more severe. The clinical finding that the neurological
.7.9 symptoms were reproduced by extension of the cervical
The risk of neurological injury, ranging from minor spine, and not by flexion, was correlated with the results
symptoms to complete quadriplegia, has been discussed by of the imaging studies; this formed the basis for the decision
many authors24’2. We agree with Elster that all patients to do a posterior decompression and arthrodesis.

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