Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 23, 2022
A Rare Presentation of Klippel-Feil Syndrome: The Single Cervical Vertebra
- Background:
- Klippel-Feil syndrome (KFS) is an uncommon skeletal disorder caused by congenital fusion of 2 or more cervical vertebrae.
- Clinical Presentation:
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The classic clinical triad consists of short neck, limitation of head and neck movements, and low posterior hairline.
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While most patients are asymptomatic, symptomatic patients may present with axial neck symptoms, radicular pain, or myelopathy.
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- Key Diagnostic Features:
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Findings in this case include complete fusion of all cervical vertebrae except appearing as a single and elongated cervical vertebral body.
- Associated radiologic findings may include: kyphoscoliosis, basilar invagination, Sprengel deformity of the shoulder, or cervical spondylosis.
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- Differential Diagnoses:
- Ankylosing spondylitis
- Surgical fusion
- Sequela of prior discitis
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Treatment:
- Surgical treatment may be indicated to correct craniocervical instability and symptomatic spinal canal stenosis.
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