PEDIATRICS Vol. 111 No. 1 January 2003, pp. 199-201
Cervical Spine Involvement in Larsen’s Syndrome: A Case Illustration
Jason T. Banks, MD*,
John C. Wellons, III, MD*,
R. Shane Tubbs, PhD, PA-C*,
,
Jeffrey P. Blount, MD*,
W. Jerry Oakes, MD* and
Paul A. Grabb, MD*
* Division of Pediatric Neurosurgery
Department of Cell Biology, Children’s Hospital of Alabama, Birmingham, AL 35233
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ABSTRACT
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We present the progressive clinical course of a child with myelopathy
attributable to cervical spine abnormalities associated with
Larsen’s syndrome. After anterior and posterior cervical
fusion, his preoperative symptoms of weakness, gait dysfunction,
and hyperreflexia have improved at 9-month follow-up. The progressive
course and importance of early referral and intervention should
be of interest to the general pediatric community.
Key Words: Larsen’s syndrome • myelopathy • cervical spine • pediatric
Abbreviations: MRI, magnetic resonance imaging
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INTRODUCTION
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Larsen’s syndrome is a rare inherited defect of connective
tissue formation that is transmitted in both an autosomal dominant
and recessive pattern. First described by Larsen in 1950, its
cardinal findings consist of multiple congenital joint dislocations
usually of the hips, knees and elbows, frontal bossing, a depressed
nasal bridge, hypertelorism, flat facies, distinctive deformities
of the hand and calcaneus, and spinal anomalies that may lead
to major spinal instability and spinal cord injury.
1–10 Outside of the orthopaedic literature, few references to its
identification and treatment exist. Therefore, to stress the
importance of a thorough evaluation of the spine in children
with Larsen’s syndrome, we present the pertinent history,
physical examination findings, radiologic images, and treatment
of a child with known Larsen’s syndrome who presented
with severe myelopathy and the accompanying radiograph images.
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CASE REPORT
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A 13-year-old white male with a known diagnosis of Larsen’s
syndrome presented with a 2-month history of decreasing arm
strength and progressive difficulty writing and walking. Eight
months earlier he experienced a fall associated with transient
numbness and paralysis of his upper and lower extremities. His
past medical and surgical history revealed partial tracheal
stenosis, hearing loss, and multiple joint operations on his
elbows, knees, and feet by an orthopaedic surgeon who ultimately
referred the child to our clinic. His mental status and cranial
nerve examination was intact. His motor examination revealed
5/5 strength except for bilateral 4+/5 triceps weakness, 4/5
wrist extension, 3/5 finger abduction, 3/5 finger adduction,
and 3/5 grip. His tone was increased throughout. Sensory abnormalities
included a marked decreased vibration sensation below his hips,
and his gait was wide-based and unsteady. He had increased reflexes
throughout with bilateral clonus of his knees and ankles, a
left Hoffman sign, and bilateral Babinski signs. His initial
plain lateral cervical spine radiograph is shown in Fig
1 and
a T1-weighted sagittal magnetic resonance imaging (MRI) is shown
in Fig
2. He was placed in halo ring traction and then underwent
a C4–7 decompressive laminectomy to remove the posterior
impingement of the cervical spine, placement of autologous rib
graft for fusion, and instrumentation from the occiput to T3.
The occiput was included because of the posterior position of
the dens evident on MRI, and the unsatisfactory bone quality
of C2 found at surgery. Four days later, he underwent an anterior
cervical corpectomy of C5, C6, and C7, autologous iliac crest
strut grafting, and anterior cervical plating. Postoperative
plain cervical spine images are shown in Fig
3. He was discharged
on postoperative day 6 in a halo with clear improvement of his
hand coordination and strength as well as improvement in his
gait. On 3-month follow-up, the radiographs appeared stable
and his halo was removed. For the next 8 weeks, he was kept
in a hard cervical collar. He has a solid fusion evident 9 months
after the operation and nearly normal strength and sensation.
His gait and posture are improving but are limited somewhat
by his joint abnormalities, and his parents are pleased with
the increase in his activity level.
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Fig 1. Preoperative lateral cervical spine radiograph revealing the hypoplastic bodies of C5, C6, and C7, severe spondylolisthesis of C5 on C6, and spondyloptosis of C6 on C7.
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Fig 2. T1-weighted sagittal MRI of the cervical spine showing stenosis of the cervical cord at the C7/T1 level in addition to the aforementioned bony abnormalities. Notice the posterior position of the dens in relation to the body of C2. T2-weighted images (not shown) revealed signal changes at C7/T1.
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Fig 3. Postoperative lateral cervical spine radiographs of the surgical results of the anterior and posterior operations. See text for a description of the operations performed. Satisfactory alignment has been achieved.
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DISCUSSION
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Spinal anomalies associated with this syndrome include lumbosacral
dysraphism, thoracic scoliosis, and hypoplasia of the vertebral
bodies or posterior elements.
1,2,4,7–10 Atlantoaxial instability
is a rare finding in this syndrome, and may be observed with
other abnormalities of the upper cervical spine including occipitalization
of the atlas and basilar impression.
4,6,7 The cervical spine
is more affected than the thoracic or lumbar spine.
1,2,5,6,8 Cervical involvement results in midcervical kyphosis (usually
at the C4–5 region), cervicothoracic lordosis, and spinal
instability.
1,2,5,8 Cervical vertebrae may be flattened and
hypoplastic, more so posteriorly, and often times may be bifid
at any level of the spine.
1,8,9 Because of these cervical deformities,
it is important that the child receive initial plain cervical
spine radiograph imaging and on a serial basis.
1,2,9 Serial
imaging in this scenario is not well-defined in the literature,
but we would recommend surveillance imaging on initial diagnosis
followed by yearly lateral cervical radiographs.
1,2,4–6,9 Early bracing and stabilization, often before 2 years of age,
has been recommended by Johnston et al
2 and Weinstein
9 to avoid
neurologic sequelae. Stabilization of the neck may be required
before surgical correction of joint abnormalities to prevent
possible complications associated with the induction of anesthesia.
Other recommendations regarding surgical intervention appear
in the literature.
1,2,5,6,8,9 Scoliosis is seen in <5% to
10% of patients and rarely requires correction.
4 Anomalies of
the lower spine rarely require bracing or operative correction.
1,7
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CONCLUSION
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This case illustrates that a patient diagnosed with Larsen’s
syndrome should be thoroughly evaluated for spinal disease,
specifically cervical anomalies which, left untreated, may lead
to cord compression and neurologic sequelae. Once identified
with Larsen’s syndrome, patients should undergo early
plain film evaluation of the cervical spine and referral. Serial
imaging should be performed yearly to allow the surgeon and
general pediatrician to follow any questionable area and to
screen for later anomalies associated with this syndrome, including
cervical kyphosis, atlantoaxial instability, or progressive
scoliosis. If surgical correction is required as in the aforementioned
example, then both a posterior decompression and fusion followed
by an anterior stabilization and fusion may be required, although
treatment is individualized for each patient. The general pediatric
community should be aware of the importance of the initial diagnosis
of Larsen’s syndrome and, in particular, of the associated
spine abnormalities. Early imaging and referral to the appropriate
pediatric neurosurgeon or pediatric orthopaedic surgeon is crucial
to the care of these challenging patients.
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FOOTNOTES
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Received for publication Jan 28, 2001; Accepted May 24, 2001.
Address correspondence to John C. Wellons III, MD, Children’s Hospital of Alabama, 1600 7th Ave, S, ACC 400, Birmingham, AL 35233. E-mail: jay.wellons{at}ccc.uab.edu
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REFERENCES
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- Bowen JR, Ortega K, Ray S, et al. Spinal deformities in Larsen’s syndrome.
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PEDIATRICS (ISSN 1098-4275). ©2003 by the American Academy of Pediatrics
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ABSTRACT
INTRODUCTION
