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 al2 and Weinstein9 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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PEDIATRICS (ISSN 1098-4275). ©2003 by the American Academy of Pediatrics
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ABSTRACT
INTRODUCTION
