What is the management and treatment of Klippel-Feil syndrome?

Management and Treatment of Klippel-Feil Syndrome

Klippel-Feil syndrome requires a multisystem surveillance approach with emphasis on cervical spine imaging, airway assessment, and screening for associated congenital anomalies, particularly renal, cardiac, and neurological abnormalities. 1

Initial Diagnostic Evaluation

Imaging Studies

• MRI is the preferred imaging modality for evaluating KFS and associated neural abnormalities, providing detailed visualization of soft tissue, bone marrow, and spinal canal 1
• Radiographs identify vertebral fusion, spondylosis, malalignment, or spinal canal stenosis 1
• Obtain cervical spine radiographs including atlas-dens measurements in flexion and extension around age 4 years to screen for cervical spinal anomalies and instability 2

Neurological Assessment

• Perform neurological examination focusing on signs of myelopathy or radiculopathy 1
• Screen for split cord malformation (SCM), which can be associated with KFS and may present with vertebral malformations including hemivertebrae, sagittally clefted (butterfly) vertebrae, or fused (block) vertebrae 1
• Consider lumbar spine MRI if bowel and bladder dysfunction or lower limb upper motor neuron signs are present to rule out tethered cord 2

Associated Anomalies Screening

• Evaluate for congenital urinary tract anomalies, as patients with KFS often have renal abnormalities including crossed fused renal ectopia 3
• Screen for congenital heart disease, which can be associated with KFS 4
• Assess for hearing loss through comprehensive audiological evaluation, as congenital permanent conductive hearing loss may be associated with craniofacial anomalies seen in KFS 2
• Examine for otolaryngological manifestations including dysphagia, cleft palate, jaw disorders, thyroid abnormalities, and ear malformations 5

Cervical Spine Management

Risk Stratification

• Approximately 25% of patients with KFS have cervical spine instability, particularly C1-C2 instability, which significantly impacts morbidity 1
• Patients with cervical stenosis are at increased risk for spinal cord injury after minor trauma due to hypermobility of various cervical segments 3
• Counsel patients about the increased risk of transient neurologic deterioration after minor trauma if radiographic evidence of spinal stenosis is present 3

Activity Modifications

• Avoid contact sports and activities with high risk of cervical trauma in patients with documented cervical instability 3
• Implement fall prevention strategies given the risk of spinal cord injury from minor trauma 3

Anesthetic Considerations

Airway Management

• Airway assessment is crucial in KFS patients who may require anesthesia, as difficult airway management is common due to limited neck mobility and difficult intubation 1
• Antenatal referral to anesthetic services is essential for pregnant women with KFS, with multidisciplinary discussions and meticulous planning considering potential obstetric scenarios 2
• Avoid operative vaginal delivery when possible in patients with KFS, as C1-C2 instability places the spinal cord at risk during delivery 1

Regional Anesthesia Planning

• Combined spinal-epidural anaesthesia may be selected for its perceived reliability and ability to "top up" the epidural catheter 2
• Early antenatal planning should include contingency preparation for emergency cesarean section if elective cesarean is planned 2

Preventive Care

Renal Stone Prevention

• Emphasize prevention of kidney stones in patients with KFS and renal anomalies, particularly those who sustain spinal cord injury 3
• Recommend large fluid intake as the most powerful and economical means of preventing nephrolithiasis 3

Long-Term Monitoring

• Routine scoliosis screening with scoliometer and radiography when clinically indicated 2
• Monitor for development of neurological symptoms including focal deficits, muscle weakness, or abnormal deep tendon reflexes 2

Common Pitfalls

• Failing to screen for associated congenital anomalies, particularly renal and cardiac abnormalities, which are frequently present 3, 4
• Underestimating the risk of spinal cord injury from minor trauma in patients with cervical stenosis 3
• Inadequate anesthetic planning for pregnant women with KFS, leading to emergency airway management complications 2, 1
• Not counseling patients about activity restrictions and trauma risk when cervical instability is documented 3