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Arch Orthop Trauma Surg (2001) 121 : 99101

Springer-Verlag 2001

CURRENT PROBLEM CASE

Hideki Nagashima Yasuo Morio Ryota Teshima

No neurological involvement for more than 40 years


in Klippel-Feil syndrome with severe hypermobility
of the upper cervical spine

Received: 26 April 1999

Abstract We report the case of a 42-year-old woman


with Klippel-Feil syndrome, who showed severe hypermobility of the upper cervical spine without neurological
involvement for more than 40 years. Radiographs revealed the presence of the odontoid bone and fusion of the
atlas, odontoid bone, and occiput. Congenital fusion was
present from the axis to C5 as a block vertebra. Lateral
flexion-extension radiographs revealed severe hypermobility at the junction between the odontoid bone and the
axis. Prophylactic surgical stabilization has been recommended in patients with severe hypermobility, but adjacent disc problems may possibly occur at the unfused levels in the future. We believe that early prophylactic stabilization should not be indicated for Klippel-Feil syndrome
without neurological involvement only because of hypermobility.

Introduction
In 1912, Klippel and Feil [7] first described a patient with
marked shortening of the neck, a low posterior hairline,
and severe restriction of neck motion. On postmortem examination, this classic triad showed congenital fusion of
the cervical vertebrae, and Klippel-Feil syndrome refers
to all patients with this anomaly [2, 7]. In this condition,
hypermobility of the junction between the fused segments
results in mechanical pressure on the spinal cord and sudden neural problems, such as quadriplegia, after minor
trauma [1, 8]. This is the reason why early prophylactic
surgical stabilization has been recommended in patients
with severe hypermobility.

H. Nagashima () Y. Morio R. Teshima


Department of Orthopedic Surgery, Faculty of Medicine,
Tottori University, 36-1 Nishi-machi, Yonago,
Tottori 683-8504, Japan
e-mail: hidekin@grape.med.tottori-u.ac.jp,
Tel.: +81-859-348115, Fax: +81-859-348093

We report a case of severe hypermobility of the upper


cervical spine without neurological involvement for
42 years, and discuss whether early prophylactic stabilization is necessary or not.

Case report
A 42-year-old woman was referred with a 3-week history of neck
pain, accompanied by vertigo and nausea on extension of the cervical spine. There was no history of trauma. Physical examination
revealed a short neck, low posterior hairline, restricted motion of
the neck, right torticollis, and facial asymmetry, but otherwise the
results of neurological examination were normal. Hypoplasia of
the left kidney and uterus were found, but the cardiac and auditory
functions were normal.
Radiographs showed several congenital anomalies of the cervical spine (Fig. 1). The odontoid bone and congenital fusion of the
vertebral bodies from C2 to C5 as a block vertebra were found.
The cervical spinous processes were fused between C2 and C3 and
between C4 and C5. Cervical scoliosis was found secondary to the
hypoplasia of C6. Spina bifida occulta of C7 was also present. Lateral flexion-extension radiographs revealed no motion between the
occiput and atlas, confirming occipitalization of C1, which was accompanied by hypermobility at the junction between the odontoid
bone and C2. We evaluated the range of motion of the occipital-atlanto-axial complex on the sagittal plane, using two lines: MacGregors line, which bridges the hard palate and the posterior occipital margin, and the inferior border of the C5 vertebral body, because of the congenital fusion from C2 to C5. Concerning the
lower cervical segment with hypoplasia of C6, the range of motion
was measured between the inferior border of the C5 vertebral body
and the superior border of C7. The total arcs of motion of the upper and lower cervical segments were 47 and 6, respectively.
Myelogram, tomogram after myelography, and computed tomogram after myelography showed impingement of the spinal cord
anteriorly at the cephalic edge of the C2 vertebral body (Fig. 2). As
the neck was flexed, anterior impingement of the spinal cord was
severest, and the sagittal diameters of the spinal canal and the
spinal cord were 10 mm and 4 mm, respectively. Computed tomograms after myelography showed separation of the anterior arch of
C1 and a defect of the left half of the posterior arch of C1 (Fig. 3).
The patient was treated conservatively with a cervical collar
and analgesic medication. She obtained relief from symptoms, but
the neck pain persisted. Therefore, occipitocervical fusion was performed from the occiput to C2 utilizing the technique described by
Wertheim and Bohlman [10], without sublaminar wiring of C1 because of a hypoplastic posterior arch. After surgery, her skull and
neck were immobilized by a halo and vest. After 12 weeks, the

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2A

Fig. 1 Preoperative lateral radiograph of the cervical spine demonstrated the fusion
from C2 to C5, the fusion of the cervical spinous processes between C2 and C3 and
between C4 and C5, and odontoid bone-atlanto-occipital assimilation
Fig. 2 A, B Midline tomograms after myelography with the neck in flexion (A) and in
extension (B). Anterior impingement of the spinal cord was severest when the neck
was flexed

Fig. 3 Computed tomographic section after myelography through the atlas demonstrated separation of the anterior arch and a defect in the left half of the posterior arch
of the atlas

halo was removed, and a Philadelphia collar was applied. Four


months after surgery, radiograms demonstrated that the grafted
bone was well consolidated, and the Philadelphia collar was removed. Seven years postoperatively, the patient no longer had
neck pain, vertigo, or nausea, but she is somewhat bothered by the
restricted motion of the neck.

Discussion
Patients with Klippel-Feil syndrome who have a limitation of neck motion are able to compensate with hypermobility of the unfused segments of the cervical vertebrae
[5]. Many authors [1, 8] have reported sudden quadriplegia or death in patients with Klippel-Feil syndrome following minor trauma, such as tripping or falling out of
bed. With reference to these episodes, some authors recommended prophylactic arthrodesis in patients with instability [1, 8].
Three high-risk patterns of cervical spinal motion have
been described in patients with Klippel-Feil syndrome, and
indicate a potentially poor prognosis: fusion of C2 and C3

with occipitalization of C1, a long fusion with an abnormal occipitocervical junction, and a single open interspace between two fused segments [4]. Moreover, upper
cervical fusion tends to produce neurological symptoms
in the first decade of life [3]. Our patient, whose radiograms showed a long fusion from C2 to C5 with occipitalization of C1 and an abnormal junction between the
odontoid bone and the C2 vertebral body, had two of these
three high-risk patterns. However, no neurological symptoms had been experienced for more than 40 years.
We do not agree that the asymptomatic patient with
Klippel-Feil syndrome should undergo early prophylactic
arthrodesis just because of instability. Pizzutillo et al. [9]
reported that none of the patients with occipitalization
of the atlas developed neurologic problems. Jeanneret
and Magerl [6] described a patient with congenital fusion
O-C2 and congenital spondylolysis of C2, who had no
symptoms for 53 years. Their data and the current case
lead us to doubt whether these three high-risk patterns of
cervical spinal motion are actually so risky. Furthermore,
patients with Klippel-Feil syndrome have fewer motion

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segments in the cervical spine than normal people, and


therefore, it is likely that other segment problems will occur as they live longer after arthrodesis. We believe that
operation is only indicated in symptomatic patients whose
symptoms resist conservative treatment.

References
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J Bone Joint Surg Am 66: 14731474
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385
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