Professional Documents
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Springer-Verlag 2001
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.
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
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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References
1. Elster AD (1984) Quadriplegia after minor trauma in the Klippel-Feil syndrome: a case report and review of the literature.
J Bone Joint Surg Am 66: 14731474
2. Feil A (1919) Labsence et la diminution des vertbres cervicales (tude clinique et pathogenique): le syndrome de rduction numrique cervicale. Thses de Paris
3. Gray SW, Romaine CB, Skandalakis JE (1964) Congenital fusion of the cervical vertebrae. Surg Gynecol Obstet 118: 373
385
4. Hensinger RN (1992) Klippel-Feil syndrome (congenital synostosis of cervical vertebrae, brevicollis). In: Rothman RH,
Simeone FA (eds) The spine, Vol 1, 3rd edn. Saunders, Philadelphia, pp 290307