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Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.
Failing non-surgical therapies, spinal surgery may provide relief. Adjacent segment disease and scoliosis are two examples of common symptoms associated with Klippel–Feil syndrome, and they may be treated surgically. The three categories treated for types of spinal cord deficiencies are massive fusion of the cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel–Feil syndrome (Type III).
Adjacent segment disease can be addressed by performing cervical disc arthroplasty using a device such as the Bryan cervical disc prosthesis.
The option of the surgery is to maintain range of motion and attenuate the rate of adjacent segment disease advancement without fusion.
Another type of arthroplasty that is becoming an alternate choice to spinal fusion is Total Disc Replacement. Total disc replacement objective is to reduce pain or eradicate it.
Spinal fusion is commonly used to correct spinal deformities such as scoliosis. Arthrodesis is the last resort in pain relieving procedures, usually when arthroplasties fail.
The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
Non surgical treatments include steroid injections in the lower back or radiofrequency sensory ablation. Physical therapy interventions are also helpful in early cases and are focused around mobilization, neural stretching, and core strengthening exercises. Surgical intervention is usually a last resort if all conservative methods fail. It can be treated surgically with posterolateral fusion or resection of the transitional articulation.
Pregnant mothers are advised to take folic acid supplements to reduce risk of iniencephaly by up to 70%. Pregnant mothers are also advised not to take antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, all of which have been associated with increased risk for neural tube defects.
Potential non-surgical treatments include:
- Education about the course of the condition and how to relieve symptoms
- Medicines to relieve pain and inflammation, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs)
- Exercise, to maintain or achieve overall good health, aerobic exercise, such as riding a stationary bicycle, which allows for a forward lean, walking, or swimming can relieve symptoms
- Weight loss, to relieve symptoms and slow progression of the stenosis
- Physical therapy, to provide education, instruction, and support for self-care; physical therapy instructs on stretching and strength exercises that may lead to a decrease in pain and other symptoms
Potential surgical treatments include:
- Anterior cervical discectomy and fusion - A surgical treatment of nerve root or spinal cord compression by decompressing the spinal cord and nerve roots of the cervical spine with a discectomy in order to stabilize the corresponding vertebrae.
- Laminoplasty - A surgical procedure relieve pressure on the spinal cord by cutting the lamina on both sides of the affected vertebrae (cutting through on one side and merely cutting a groove on the other) and then "swinging" the freed flap of bone open.
- Laminectomy - A surgical procedure in which the lamina of the vertebra is removed or trimmed to widen the spinal canal and create more space for the spinal nerves and thecal sac.
Patients with symptomatic isthmic anterolisthesis are initially offered conservative treatment consisting of activity modification, pharmacological intervention, and a physical therapy consultation.
- Physical therapy can evaluate and address postural and compensatory movement abnormalities.
- Anti-inflammatory medications (NSAIDS) in combination with paracetamol (Tylenol) can be tried initially. If a severe radicular component is present, a short course of oral steroids such as Prednisone or Methylprednisolone can be considered. Epidural steroid injections, either interlaminal or transforaminal, performed under fluoroscopic guidance can help with severe radicular (leg) pain. Lumbosacral orthoses may be of benefit for some patients but should be used on a temporary basis to prevent spinal muscle atrophy and loss of proprioception.
The effectiveness of non surgical treatments is unclear as they have not been well studied.
- Education about the course of the condition and how to relieve symptoms
- Medicines to relieve pain and inflammation, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs)
- Exercise, to maintain or achieve overall good health, aerobic exercise, such as riding a stationary bicycle, which allows for a forward lean, walking, or swimming can relieve symptoms
- Weight loss, to relieve symptoms and slow progression of the stenosis
- Physical therapy to support self-care. Also may give instructs on stretching and strength exercises that may lead to a decrease in pain and other symptoms.
- Lumbar epidural steroid or anesthetic injections have low quality evidence to support their use.
Treatment options are either surgical or non-surgical. Overall evidence is inconclusive whether non-surgical or surgical treatment is the better for lumbar spinal stenosis.
There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs, and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them.
Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.
Since newborns with iniencephaly so rarely survive past childbirth, a standard treatment does not exist.
In 1998, a clinical trial demonstrated the effectiveness of intravenous pamidronate, a bisphosphonate which had previously been used in adults to treat osteoporosis. In severe OI, pamidronate reduced bone pain, prevented new vertebral fractures, reshaped previously fractured vertebral bodies, and reduced the number of long-bone fractures.
Although oral bisphosphonates are more convenient and cheaper, they are not absorbed as well, and intravenous bisphosphonates are generally more effective, although this is under study. Some studies have found oral and intravenous bisphosphonates, such as oral alendronate and intravenous pamidronate, equivalent. In a trial of children with mild OI, oral risedronate increased bone mineral densities, and reduced nonvertebral fractures. However, it did not decrease new vertebral fractures. A Cochrane review in 2016 concluded that though bisphosphonates seem to improve bone mineral density, it is uncertain whether this leads to a reduction in fractures or an improvement in the quality of life of individuals with osteogenesis imperfecta.
Bisphosphonates are less effective for OI in adults.
Degenerative anterolisthesis with spinal stenosis is one of the most common indications for spine surgery (typically a laminectomy) among older adults. Both minimally invasive and open surgical techniques are used to treat anterolisthesis.
In Germany, a standard treatment for both Scheuermann's disease and lumbar kyphosis is the Schroth method, a system of physical therapy for scoliosis and related spinal deformities.
It involves lying supine, placing a pillow under the scapular region and posteriorly stretching the cervical spine.
Body braces showed benefit in a randomised controlled trial.
The Milwaukee brace is one particular body brace that is often used to treat kyphosis in the US. Modern CAD/CAM braces are used in Europe to treat different types of kyphosis. These are much easier to wear and have better in-brace corrections than reported for the Milwaukee brace. Since there are different curve patterns (thoracic, thoracolumbar and lumbar), different types of brace are in use, with different advantages and disadvantages.
Treatment includes anti-inflammatory medications and immobilization of the neck in addition to treatment of the offending infectious cause (if any) with appropriate antibiotics. Early treatment is crucial to prevent long-term sequelae. Surgical fusion may be required for residual instability of the joint.
The procedure of spine shortening via vertebral osteotomy (SSVO) for TCS is a surgical technique that avoids the complication with revision tethering. In this research a lateral retropleural approach was used for SSVO in recurrent TCS in a 21-year-old female. The patient presented with progressive lower extremity weakness, bowel and bladder incontinence, and back pain in the setting of childhood repair of mylomeningocele and two previous detethering procedures. The research on performing SSVO in this patient allowed the scientists to conclude that SSVO via lateral retropleural approach is a good treatment for the recurrence of TCS. This procedure is minimally invasive compared to the posterior approach which gives the advantages of having direct access to the vertebral body and disc while avoiding the need to have an operation near the spinal cord but further research is still needed.
Non-surgical methods of treatment are usually attempted first, leaving surgery as a last resort. Pain medications are often prescribed as the first attempt to alleviate the acute pain and allow the patient to begin exercising and stretching. There are a variety of other non-surgical methods used in attempts to relieve the condition after it has occurred, often in combination with pain killers. They are either considered indicated, contraindicated, relatively contraindicated, or inconclusive based on the safety profile of their risk-benefit ratio and on whether they may or may not help:
In the majority of cases, spinal disc herniation doesn't require surgery, and a study on sciatica, which can be caused by spinal disc herniation, found that "after 12 weeks, 73% of people showed reasonable to major improvement without surgery." The study, however, did not determine the number of individuals in the group that had sciatica caused by disc herniation.
- Initial treatment usually consists of non-steroidal anti-inflammatory pain medication (NSAIDs), but the long-term use of NSAIDs for people with persistent back pain is complicated by their possible cardiovascular and gastrointestinal toxicity.
- Epidural corticosteroid injections provide a slight and questionable short-term improvement in those with sciatica but are of no long term benefit. Complications occur in 0 to 17% of cases when performed on the neck and most are minor. In 2014, the US Food and Drug Administration (FDA) suggested that the "injection of corticosteroids into the epidural space of the spine may result in rare but serious adverse events, including loss of vision, stroke, paralysis, and death." and that "The effectiveness and safety of epidural administration of corticosteroids have not been established, and FDA has not approved corticosteroids for this use.".
Treatment is usually conservative in nature. Patient education on lifestyle modifications, chiropractic, nonsteroidal anti-inflammatory drugs (NSAIDs), physical therapy, and osteopathic care are common forms of manual care that help manage such conditions. Other alternative therapies such as massage, trigger-point therapy, yoga and acupuncture may be of limited benefit. Surgery is occasionally performed.
Many of the treatments for cervical spondylosis have not been subjected to rigorous, controlled trials. Surgery is advocated for cervical radiculopathy in patients who have intractable pain, progressive symptoms, or weakness that fails to improve with conservative therapy. Surgical indications for cervical spondylosis with myelopathy (CSM) remain somewhat controversial, but "most clinicians recommend operative therapy over conservative therapy for moderate-to-severe myelopathy" (Baron, M.E.).
Physical therapy may be effective for restoring range of motion, flexibility and core strengthening. Decompressive therapies (i.e. manual mobilization, mechanical traction) may also help alleviate pain. However, physical therapy and osteopathy cannot "cure" the degeneration, and some people view that strong compliance with postural modification is necessary to realize maximum benefit from decompression, adjustments and flexibility rehabilitation.
It has been argued, however, that the cause of spondylosis is simply old age, and that posture modification treatment is often practiced by those who have a financial interest (such as Worker's Compensation) in proving that it is caused by work conditions and poor physical habits. Understanding anatomy is the key to conservative management of spondylosis.
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome
Because neurological deficits are generally irreversible, early surgery is recommended when symptoms begin to worsen. In children, early surgery is recommended to prevent further neurological deterioration, including but not limited to chronic urinary incontinence.
In adults, surgery to detether (free) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Although detethering is the common surgical approach to TCS, another surgical option for adults is a spine-shortening vertebral osteotomy. A vertebral osteotomy aims to indirectly relieve the excess tension on the spinal cord by removing a portion of the spine, shortening it. This procedure offers a unique benefit in that the spinal cord remains fixated to the spine, preventing retethering and spinal cord injury as possible surgical complications. However, its complexity and limited “track record” presently keeps vertebral osteotomies reserved as an option for patients who have failed in preventing retethering after detethering procedure(s).
Other treatment is symptomatic and supportive. Medications such as NSAIDs, opiates, synthetic opiates, COX-2 inhibitors, and off-label applications of tricyclic antidepressants combined with anti-seizure compounds have yet to prove they are of value in treatment of this affliction's pain manifestations. There is anecdotal evidence that TENS units may benefit some patients.
Treatment may be needed in adults who, while previously asymptomatic, begin to experience pain, lower back degeneration, scoliosis, neck and upper back problems and bladder control issues. Surgery on adults with minimal symptoms is somewhat controversial. For example, a website from the Columbia University Department of Neurosurgery says, "For the child that has reached adult height with minimal if any symptoms, some neurosurgeons would advocate careful observation only." However, surgery for those who have worsening symptoms is less controversial. If the only abnormality is a thickened, shortened filum, then a limited lumbosacral laminectomy with division of the filum may be sufficient to relieve the symptoms.
This syndrome was first noticed in the late 19th century. While information has been available for years, little widespread blind research has been done. More research has been called for, and doctors have conducted many studies with good results. There is a low morbidity rate, and no complications have been documented other than those typical of any type of back surgery. The association of this condition with others has been noticed, and needs further research to understand such relationships. TCS is causally linked to Chiari malformation and any affirmative diagnosis of TCS must be followed by screening for Chiari's several degrees. TCS may also be related to Ehlers-Danlos syndrome, or Klippel-Feil syndrome, which should also be screened for upon a positive TCS diagnosis. Spinal compression and the resulting relief is a known issue with this disorder. Like with the early-onset form, this disease form is linked to the Arnold-Chiari malformation, in which the brain is pulled or lowers into the top of the spine.
Often, degenerative disc disease can be successfully treated without surgery. One or a combination of treatments such as physical therapy, anti-inflammatory medications such as nonsteroidal anti-inflammatory drugs, traction, or epidural steroid injection often provide adequate relief of troubling symptoms.
Surgery may be recommended if the conservative treatment options do not provide relief within two to three months. If leg or back pain limits normal activity, if there is weakness or numbness in the legs, if it is difficult to walk or stand, or if medication or physical therapy are ineffective, surgery may be necessary, most often spinal fusion. There are many surgical options for the treatment of degenerative disc disease, including anterior and posterior approaches. The most common surgical treatments include:
New treatments are emerging that are still in the beginning clinical trial phases. Glucosamine injections may offer pain relief for some without precluding the use of more aggressive treatment options . In the US, artificial disc replacement is viewed cautiously as a possible alternative to fusion in carefully selected patients, yet it is widely used in a broader range of cases in Europe, where multi-level disc replacement of the cervical and lumbar spine is common . Adult stem cell therapies for disc regeneration are in their infancy. Investigation into mesenchymal stem cell therapy knife-less fusion of vertebrae in the United States began in 2006.
Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with a skin projection or sinus, or as a subcutaneous erythematous fibrous cord. Surgical excision is the preferred treatment.