What is the management of Klippel-Feil syndrome?

Management of Klippel-Feil Syndrome

The management of Klippel-Feil syndrome (KFS) requires careful neurological monitoring and protection of the cervical spine to prevent potentially catastrophic spinal cord injury, which is the most significant risk affecting morbidity and mortality in these patients. 1

Clinical Features and Risk Assessment

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae resulting from faulty segmentation during embryonic development. The classic triad includes:

• Short neck
• Limited range of motion in the neck
• Low posterior hairline

High-Risk Features

• Cervical stenosis: Patients with KFS and cervical stenosis are at significantly increased risk for spinal cord injury after minor trauma 1
• Type III fusion pattern: Patients with multiple, contiguous fused vertebrae (Samartzis type III) experience greater nerve pain, joint pain, and headaches/migraines 2
• Middle cervical region involvement: Fusions in C2-C6 region tend to be associated with greater muscle, joint, and nerve pain 2
• Hypermobility: Excessive movement at non-fused segments adjacent to fused vertebrae increases injury risk 1

Diagnostic Evaluation

1. Imaging:

   • Cervical spine X-rays (AP and lateral views) to identify vertebral fusion patterns
   • MRI of cervical spine to assess spinal cord, nerve roots, and identify potential stenosis
   • CT scan for detailed bone anatomy and surgical planning if needed

2. Screening for Associated Conditions:

   • Renal ultrasound (urinary tract anomalies are common) 1
   • Cardiac evaluation (echocardiogram) for congenital heart defects 3
   • Hearing assessment
   • Neurological examination for signs of myelopathy

Management Approach

1. Patient Education and Activity Modification

• Risk awareness: Patients must be educated about their increased risk of neurological injury with minor trauma 1
• Activity restrictions: Avoid contact sports and high-impact activities
• Protective measures: Consider cervical collar for high-risk activities

2. Pain Management

Pain affects over 90% of KFS patients and typically begins in adolescence (median age 16 years) 2:

• First-line: Oral over-the-counter medications (reported effectiveness: 3/5) 2
• Second-line: Prescribed oral medications (reported effectiveness: 3/5) 2
• Third-line: Injections for localized pain (reported effectiveness: 2/5) 2
• Adjunctive therapies:
  • Physical therapy focusing on strengthening neck muscles
  • Postural training
  • Heat/cold therapy

3. Surgical Management

Surgery is indicated for:

• Progressive neurological deficits
• Myelopathy
• Intractable pain unresponsive to conservative measures
• Cervical instability

Surgical approaches depend on the specific pathology:

• Decompression: For stenosis causing cord compression
• Stabilization/fusion: For unstable segments
• Combined approaches: For complex cases with anterior pathology (e.g., meningomyelocele) 4

Patients requiring surgery typically have:

• More comorbidities
• More neurological symptoms (balance/gait disturbances)
• Older age when pain worsens 2

4. Airway Management Considerations

KFS patients requiring general anesthesia present special challenges:

• Preoperative assessment: Thorough airway evaluation is essential
• Difficult airway anticipation: Patients with KFS often have Mallampati grade 3-4 airways 5
• Awake flexible bronchoscopic intubation: May be necessary for difficult airways 5
• Regional anesthesia: Consider when appropriate to avoid airway manipulation 5

5. Monitoring and Follow-up

• Regular neurological examinations to detect early signs of myelopathy
• Periodic imaging (every 2-3 years or with new symptoms)
• Pain assessment and management optimization

Special Considerations

• Pregnancy: Women with KFS requiring cesarean section should have early anesthetic consultation and planning 5
• Renal anomalies: Patients with KFS and kidney abnormalities need increased fluid intake to prevent kidney stones 1
• Children: Early intervention for associated scoliosis or torticollis

Complications to Monitor

• Progressive myelopathy
• Radiculopathy
• Chronic pain syndrome
• Respiratory compromise (in severe cases)
• Post-traumatic neurological deterioration

By implementing this comprehensive management approach with emphasis on prevention of spinal cord injury, most KFS patients can maintain good quality of life with appropriate precautions and interventions.