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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:

  • Cosmetic issues (either of the neck or due to associated anomalies such as Sprengel deformity)
  • Neck pain alone
  • Nerve root (radicular) pain with or without weakness,
  • Slowly progressive or acute paraparesis or
  • Quadriparesis
  • Complications caused by associated anomalies
ALL PATIENTS WITH CONGENITAL CERVICAL FUSION SHOULD AVOID BODY CONTACT SPORTS AS WELL AS ANY RECREATIONAL ACTIVITIES THAT MAY PUT THEM AT RISK FOR HEAD TRAUMA.

THE POTENTIAL FOR CATASTROPHIC OUTCOMES WITH THESE STRUCTURAL ABNORMALITIES IS VERY REAL AND MUST BE KEPT IN MIND THROUGHOUT THE LIFE OF THE AFFECTED INDIVIDUAL.

LONG TERM FOLLOW UP IS HIGHLY RECOMMENDED. PATIENTS AND HIS/HER FAMILY MUST BE CAREFULLY AND FULLY COUNSELLED.


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.


Figure 1A (Left): Post-myelographic CT Scan (Sagittal Reconstruction View) Klippel-Feil Syndrome in a 45 year old Male with severe persistent neck & arm pain, weakness in his arms & hands indicating a Cervical Spondylotic Myelo-radiculopathy. The patient has a congenital fusion of C2-C3. He has an "extra" cervical vertebra with "block vertebrae" involving C6-7 and "C8". There is a fusion between "C8" and T1 as well as T1-T2. Posterior bone spurs are present at each of the "preserved" disc spaces.

Figure 1B (Right): Post-myelographic CT Scan (Axial View at C3-4). Bone spur formation (Arrows) has resulted in narrowing of the Antero-posterior diameter of the Spinal Canal.


Figure 2A (Left): Post-myelographic CT Scan (Axial View at C4-5/Same Patient) The Spinal Canal diameter is significantly narrowed and the Spinal Cord compressed by bone spur formation and calcification of the Posterior Longitudinal Ligament (Arrows). There is little myelographic dye around the narrowed Spinal Cord at this level.

Figure 2B (Right): Post-myelographic CT Scan (Axial View at C5-6/Same Patient) Cervical Spondylosis (Bone Spur Formation) is present at this level as well, although not to the same degree as the other levels. The Left Neural Foramen (Arrow) is more narrowed by spur and hypertrophic ligament formation compared to the Right side.

The anomalies associated with Klippel-Feil Syndrome include:

  • Scoliosis (60%)
  • Renal abnormalities (35%)
  • Sprengel deformity (30%)
  • Deafness (30%)
  • Mirror motion (synkinesis) (20%)
  • Congenital Heart Disease (15%)
  • Ptosis
  • Duane contracture
  • Lateral Rectus palsy
  • Facial nerve palsy
  • Syndactyly
  • Hypoplastic thumb
  • Upper extremity hypoplasia
  • Neurenteric cyst
Three patterns of deformity are at the greatest risk for instability and require early recognition:
  • fusion of C1 to C3 with Occipitocervical synostosis
  • long fusion with an abnormal Occipitocervical junction
  • single open interspace between 2 fused segments.

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.


Figure 3: Operative Photo (Same Klippel-Feil Patient). Multi-level Anterior Cervical Fusion.

An Anterior Cervical Fusion with resection of the Bone Spurs, Calcified Posterior Longitudinal Ligament and Bilateral Uncovertebral Joints (the latter had caused the Foramenal Stenosis) was carried out at each of the C3-4, C4-5 and C5-6 levels.

In this image each disc space has been "reconstructed" using a bioreabsorbable intervertebral "spacer" (Arrows) in order to maintain the critical distance between the adjacent vertebral bodies. Each "spacer" has been filled with the patient's own bone that was preserved from the drilling removal of the bone spurs. A bone growth "accelerant" (Bone Morphogenic Protein" - BMP) has been used as well.

"Cornerstone" bioreabsorbable Intervertebral Spacers & BMP provided by Medtronic Sofamor-Danek.


Figure 4: Operative Photo (Klippel-Feil Multi-level Anterior Cervical Fusion-Same Patient)

An Anterior Cervical Internal Fixation Plate & Screws (Titanium) has been fixed in place. Compare this to the Post-operative Cervical Spine x-ray of this patient in Figure 5.

Titanium Anterior Internal Fixation Plate & Screws provided by Aesculap, Inc. USA


Figure 5: Post-operative (8 weeks) Lateral Cervical Spine X-ray (Same Klippel-Feil Patient as in Figures 1-4)

The Anterior Internal Fixation Plate and screws are well positioned and adequate alignment has been attained. He achieved solid fusion at each operated level.

The patient's pre-operative incapacitating pain and neurological deficits completely resolved and he is employed full time in his previous profession. Cervical Spine motion is restricted in flexion and extension although not to the degree that one would anticipate when viewing this x-ray.

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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This page last edited on 2/19

All content ©2014 by Neurosurgical Consultants, P.A.
Author, Martin L. Lazar, MD, FACS
All Rights Reserved. See Usage Notices.