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KLIPPEL-FEIL SYNDROME Klippel-Feil Syndrome is an uncommon congenital fusion of the Cervical Vertebrae, whether it involves 2 segments, congenital block vertebrae, or the entire Cervical Spine. Congenital Cervical fusion is the result of failure of normal segmentation of the cervical bone precursors (called "somites") during the third to eighth weeks of life. The majority of patients are female with a prevalence of 1 in 42,000 births.ETIOLOGY With the exception of a few patients in whom this condition is inherited, the etiology is undetermined.SYMPTOMS One half of all Klippel-Feil patients exhibit the classic clinical triad of low posterior hairline, short neck, and limitation of neck motion. The decrease in motion most commonly is in lateral bending and rotation. Flexion and extension are relatively well preserved, except in the most massive fusion. A low posterior hairline seems to reflect the shortening of the neck rather than being a separate entity.Patients with Klippel-Feil Syndrome may be identified at any age. The cosmetic deformity that is usually associated with massive fusions is often noted in infancy or in early childhood. Neurological problems of Spinal Cord and/or Medulla insufficiency presenting in infancy are related to the compromise of the Cranio-vertebral junction. Cervical fusions at the lower levels, if they are not massive, often do not present until later in life (30's +), when degenerative changes or instability of adjacent segments develops. Patients with Klippel-Feil Syndrome present with a wide range of complaints, including:
DIAGNOSIS Neuroimaging The diagnosis of Congenital Cervical Fusion in infants and young children can be difficult. Flexion and extension neuroimaging studies can demonstrate a lack of motion between fused segments.CT scans are used to define the bony architecture. Aside from vertebral fusion, the most common findings are flattening (wasp waist) and widening of the involved vertebral bodies and absent disk spaces. Narrowing of the Spinal Canal, if present, occurs in adults as a result of degenerative changes and/or hypermobility. All of these defects may extend into the upper thoracic spine, particularly in cases in which involvement is severe. These disturbances may be detected first on routine chest film as a first clue. In patients who are identified with a high thoracic congenital scoliosis, the neuroimaging evaluation should include, at a minimum, lateral x-ray images of the Cervical Spine.
The anomalies associated with Klippel-Feil Syndrome include:
TREATMENT Non-surgical Activity modification, Cervical Spine bracing and Cervical Traction may help to reduce symptoms however this does not alter the underlying disease process.Surgery Cervical Spine stabilization is indicated if instability is documented. Cervical Spine fusion is also indicated if the patient manifests a severe neurological deficit, documented progression of a neurological deficit, severe and persistent pain despite conservative measures.Spinal Stenosis in these patients is usually consequent to Degenerative Osteoarthritis resulting in bone spur and/or calcification of the Posterior Longitudinal Ligament. In these cases if neurological injury is present and stenosis is documented, an operation to remove the Spinal Cord compression (decompression) is indicated.
Treatment of the cosmetic aspects of this deformity is usually unsuccessful although soft tissue procedures, Z-plasty, and muscle resection may achieve some cosmetic improvement in selected patients.
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All content ©2024 by Neurosurgical Consultants, P.A. Author, Martin L. Lazar, MD, FACS All Rights Reserved. See Usage Notices. |