Patients with congenital vertebral anomalies may present in a variety of ways:
- Asymptomatic: Congenital vertebral anomalies may be discovered during the acquisition of routine radiographs for trauma or other health issues.
- Neck or back pain: Pain in the neck or back may be caused by underlying spinal instability or a biomechanical muscular imbalance that leads to myofascial pain.
- Headache: Patients with underlying craniocervical pathology due to Chiari malformations may present with headache.
- Bulbar symptoms: Severe ventral or dorsal compression at the craniocervical junction may lead to bulbar symptomatology. This may includes dysconjugate gaze, dysphagia, dysphonia, delay of speech development, or tongue deviation.
- Myelopathy: Craniocervical or cervical cord compression may lead to myelopathic symptoms such as weakness, numbness, paresthesias, gait difficulty, or bladder and bowel dysfunction. An associated syringomyelia may also cause these symptoms.
- Radiculopathy: Cervical or lumbar vertebral anomalies may lead to compression of one or more nerve roots and radicular symptoms. Disorders such as Klippel-Feil syndrome can also lead to herniated disks because of the poor structural support of the nucleus pulposus.
- Limited neck motion: This is the most common presenting complaint in patients with Klippel-Feil syndrome.
Patterns of evolution
- Variable: A wide variety of symptom evolution may occur in congenital spine anomalies, from rapidly progressive cord or brainstem compression to complete quiescence. The patient’s underlying anatomical and biological abnormalities, intrinsic biomechanical forces, and even external traumatic factors may all play a role in the evolution of these disorders.
Time for evolution
Evaluation at Presentation
- Careful, complete assessment: On presentation, a patient must undergo a thorough history and physical examination. Careful attention must be paid to a family history of conditions that may lead to congenital spine anomalies, such as NF1. Medications that are being used to treat underlying disease, such as pamidronate in osteogenesis imperfecta, must also be noted.
- Review prior imaging: Radiographs that accompany the patient are reviewed, and plans are made to obtain more radiographic images, if appropriate.
- Unusual to have cardiopulmonary instability: Cardiopulmonary stabilization is rarely necessary in a patient with a congenital vertebral anomaly and therefore will not be discussed here.
- May need spine stabilization: Spinal stabilization, however, is sometimes necessary and typically requires a form-fitting hard plastic cervical collar. Care must be taken to assure the collar fits properly, as many patients have very difficult cervical and/or chest anatomy to work with. Sometimes, a custom cervical collar must be ordered to accommodate the patient.
Preparation for definitive intervention, nonemergent
- Systematic evaluation: Patients who present with a slowly evolving symptom complex and without threatening signs of decompensation can be evaluated systematically and prepared for treatment.
- Steroids for acute signs of spinal cord injury: Steroids are rarely needed unless acute symptoms of spinal cord injury are present.
- Imaging: Plain films and MRI and CT scans of good quality and of the relevant anatomy are required.
- Consultations: Consultations may be obtained from genetics, orthopedics, urology, or anesthesia depending upon the clinical circumstance.
- Prepare operating room for surgery: The surgical team is assembled, and communication of the unique needs of the surgery occurs (e.g., compatibility of anesthesia with monitoring needs, availability of monitoring personnel, availability of specialized equipment (instrumentation, drills, saws, allograft bone, and fusion augmentation substances such as bone morphogenetic protein)).
Preparation for definitive intervention, emergent
- Surgery within 24 hours: Emergent spinal cord compression due to a congenital spinal anomaly is rare. However, if it does occur, it should be managed surgically within 24 hours. The same principles described above apply.
- Head of bed, positioning, and activity: Typically, activities are ad lib, except for patients in traction who are on best rest. When a child is in traction, careful attention must be paid to the relationship between the traction bar at the head of the bed and the traction device (Gardner-Wells or halo) that is attached to the patient. Too much flexion or extension may cause spinal cord impingement. Traction in the neutral position is typically best.
- Blood pressure parameters: Blood pressure parameters are not necessary unless spinal cord injury is present, in which case blood pressure elevation with fluids and pressors is desirable.