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The signs and symptoms of diastematomyelia may appear at any time of life, although the diagnosis is usually made in childhood. Cutaneous lesions (or stigmata), such as a hairy patch, dimple, Hemangioma, subcutaneous mass, Lipoma or Teratoma override the affected area of the spine is found in more than half of cases. Neurological symptoms are nonspecific, indistinguishable from other causes of cord tethering. The symptoms are caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord.
The course of the disorder is progressive. In children, symptoms may include the "stigmata" mentioned above and/or foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. In adulthood, the signs and symptoms often include progressive sensory and motor problems and loss of bowel and bladder control. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time.
Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.
Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Cervical diastematomyelia can become symptomatic as a result of acute trauma, and can cause major neurological deficits, like hemiparesis, to result from otherwise mild trauma.
The following definitions may help to understand some of the related entities:
- Diastematomyelia (di·a·stem·a·to·my·elia) is a congenital anomaly, often associated with spina bifida, in which the spinal cord is split into halves by a bony spicule or fibrous band, each half being surrounded by a dural sac.
- Myeloschisis (my·elos·chi·sis) is a developmental anomaly characterized by a cleft spinal cord, owing to failure of the neural plate to form a complete neural tube or to rupture of the neural tube after closure.
- Diplomyelia (diplo.my.elia) is a true duplication of spinal cord in which these are two dural sacs with two pairs of anterior and posterior nerve roots.
Understanding the meaning of signs and symptoms for the clinical syndrome of lumbar stenosis requires an understanding of what the syndrome is, and the prevalence of the condition. A recent review on lumbar stenosis in the Journal of the American Medical Association's "Rational Clinical Examination Series" emphasized that the syndrome can be considered when lower extremity pain occurs in combination with back pain. This syndrome occurs in 12% of older community dwelling men and up to 21% of those in retirement communities.
The leg symptoms in lumbar spinal stenosis (LSS) are similar to those found with vascular claudication, giving rise to the term pseudoclaudication. These symptoms include pain, weakness, and tingling of the legs, which may radiate down the leg to the feet. Additional symptoms in the legs may be fatigue, heaviness, weakness, a sensation of tingling, pricking, or numbness and leg cramps, as well as bladder symptoms. Symptoms are most commonly bilateral and symmetrical, but they may be unilateral; leg pain is usually more troubling than back pain.
Pseudoclaudication, now referred to as neurogenic claudication, typically worsen with standing or walking and improve with sitting. The occurrence is often related to posture and lumbar extension. Lying on the side is often more comfortable than lying flat, since it permits greater lumbar flexion. Vascular claudication can resemble spinal stenosis, and some individuals experience unilateral or bilateral symptoms radiating down the legs rather than true claudication.
The first symptoms of stenosis include bouts of low back pain. After a few months or years, this may progress to claudication. The pain may be radicular, following the classic neurologic pathways. This occurs as the spinal nerves or spinal cord become increasingly trapped in a smaller space within the canal. It can be difficult to determine whether pain in the elderly is caused by lack of blood supply or stenosis; testing can usually differentiate between them but patients can have both vascular disease in the legs and spinal stenosis.
Among people with lower extremity pain in combination with back pain, lumbar stenosis as the cause is two times more likely in those older than 70 years of age while those younger than 60 years it is 0.40 as likely. The character of the pain is also useful. When the discomfort does not occur while seated, the likelihood of LSS increases considerably around 7.4 times. Other features increasing the likelihood of lumbar stenosis are improvement in symptoms on bending forward 6.4 times, pain that occurs in both buttocks or legs 6.3 times, and the presence of neurogenic claudication 3.7 times. Alternately, the absence of neurogenic claudication makes lumbar stenosis much less likely as the explanation for the pain.
Symptoms vary depending on whether the spinal cord, brain stem, nerves or their blood supply is affected by the pressure.
Symptoms become apparent when the neck is bent. They include:
- Posterior head pain
- Neck weakness
- Periods of confusion
- Dysarthria (difficulty swallowing or talking due to loss of muscle control)
- Dizziness
- Loss of sensation
- Cranial nerve disturbance
- Loss of the ability to know how joints are positioned
- Lhermitte's sign ('electric shock sensation' down spine and/or to the extremities when the neck is flexed forward)
- Weakness of the arms and legs
- Orthostatic hypotension
- Patients will go into a pool and notice that below their belly button the water is not as cold as it is above.
Complications from this can include hydrocephalus, pseudotumor cerebri or syringomyelia because it blocks the flow of fluid around the brain and spinal cord.
In children, symptoms may include:
- Lesions, hairy patches, dimples, or fatty tumours on the lower back
- Foot and spinal deformities
- Weakness in the legs (loss of muscle strength and tone)
- Change in or abnormal gait including awkwardness while running or wearing the tips or side of one shoe
- Low back pain
- Scoliosis (abnormal curvature of the spine to the left or right)
- Urinary irregularities (incontinence or retention)
Tethered spinal cord syndrome may go undiagnosed until adulthood, when sensory, motor, bowel, and bladder control issues emerge. This delayed presentation of symptoms relates to the degree of strain on the spinal cord over time.
Tethering may also develop after spinal cord injury. Scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement or feeling, or the onset of pain or autonomic nervous system symptoms.
In adults, onset of symptoms typically include:
- Severe pain (in the lower back and radiating into the legs, groin, and perineum)
- Bilateral muscle weakness and numbness
- Loss of feeling and movement in lower extremities
- Urinary irregularities (incontinence or retention)
- Bowel control issues
Neurological symptoms can include a mixed picture of upper and lower motor neuron findings, such as amyotrophy, hyperreflexia, and pathologic plantar response, occurring in the same limb. Profound sensory changes, such as loss of pain, temperature, and proprioceptive sensations, are common. Last, progressive symptoms of a neuropathic bladder are noted on over 70% of adult patients, versus only 20% to 30% of children. These symptoms include urinary frequency and urgency, feeling of incomplete voiding, poor voluntary control, and urge and stress incontinence. Chronic recurrent infections are common and occasionally lead to nephrolithiasis (kidney stones), renal failure, or renal transplantation. Female patients also give a history of ineffective labor and postpartum rectal prolapse, presumably due to an atonic pelvic floor.
Spina bifida is the most common defect impacting the Central Nervous System (CNS). The most common and most severe form of Spina Bifida is Myelomeningocele. Individuals with Myelomeningocele are born with an incompletely fused spine, and therefore exposing the spinal cord through an opening in the back. In general, the higher the spinal lesion, the greater the functional impairment to the individual. Symptoms may include bowel and bladder problems, weakness and/or loss of sensation below the level of the lesion, paralysis, or orthopedic issues. Severity of symptoms can vary per situation.
Lumbar spinal stenosis is classified as a narrowing of the spinal canal in the lumbar region of the vertebrae. This may lead to compression of the nerve root of the spinal cord and result in pain of the lower back and lower extremities. Other symptoms include impaired walking and a slightly stooped posture due to loss of disc height and bulging of the disc. Lumbar spinal stenosis is very prevalent with 9.3% of the general population producing symptoms and the number is continuing to rise in patients older than 60. It's generally an indication for spinal surgery in patients older than 65 years of age.
Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra.
Diastematomyelia is a rare congenital anomaly that results in the "splitting" of the spinal cord in a longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as a diplomyelia, or true duplication of the spinal cord.
Spinal stenosis may be congenital (rarely) or acquired (degenerative), overlapping changes normally seen in the aging spine.
Cervical spinal stenosis is a bone disease involving the narrowing of the spinal canal at the level of the neck. It is frequently due to chronic degeneration, but may also be congenital. Treatment is frequently surgical.
Cervical spinal stenosis is one of the most common forms of spinal stenosis, along with lumbar spinal stenosis (which occurs at the level of the lower back instead of in the neck). Thoracic spinal stenosis, at the level of the mid-back, is much less common. Cervical spinal stenosis can be far more dangerous by compressing the spinal cord. Cervical canal stenosis may lead to serious symptoms such as major body weakness and paralysis. Such severe spinal stenosis symptoms are virtually absent in lumbar stenosis, however, as the spinal cord terminates at the top end of the adult lumbar spine, with only nerve roots (cauda equina) continuing further down. Cervical spinal stenosis is a condition involving narrowing of the spinal canal at the level of the neck. It is frequently due to chronic degeneration, but may also be congenital or traumatic. Treatment frequently is surgical.
Syringomyelia causes a wide variety of neuropathic symptoms due to damage of the spinal cord and the nerves inside. Patients may experience severe chronic pain, abnormal sensations and loss of sensation particularly in the hands. Some patients experience paralysis or paresis temporarily or permanently. A syrinx may also cause disruptions in the parasympathetic and sympathetic nervous systems, leading to abnormal body temperature or sweating, bowel control issues, or other problems. If the syrinx is higher up in the spinal cord or affecting the brainstem as in syringobulbia, vocal cord paralysis, ipsilateral tongue wasting, trigeminal nerve sensory loss, and other signs may occur. Rarely, bladder stones can occur in the onset of weakness in the lower extremities.
Classically, syringomyelia spares the dorsal column/medial lemniscus of the spinal cord, leaving pressure, vibration, touch and proprioception intact in the upper extremities. Neuropathic arthropathy, also known as a Charcot joint, can occur, particularly in the shoulders, in patients with syringomyelia. The loss of sensory fibers to the joint is theorized to lead to damage of the joint over time.
Symptoms of a herniated disc can vary depending on the location of the herniation and the types of soft tissue that become involved. They can range from little or no pain if the disc is the only tissue injured, to severe and unrelenting neck or lower back pain that will radiate into the regions served by affected nerve roots that are irritated or impinged by the herniated material. Often, herniated discs are not diagnosed immediately, as the patients come with undefined pains in the thighs, knees, or feet. Other symptoms may include sensory changes such as numbness, tingling, paresthesia, and motor changes such as muscular weakness, paralysis and affection of reflexes. If the herniated disc is in the lumbar region the patient may also experience sciatica due to irritation of one of the nerve roots of the sciatic nerve. Unlike a pulsating pain or pain that comes and goes, which can be caused by muscle spasm, pain from a herniated disc is usually continuous or at least is continuous in a specific position of the body. It is possible to have a herniated disc without any pain or noticeable symptoms, depending on its location. If the extruded nucleus pulposus material doesn't press on soft tissues or nerves, it may not cause any symptoms. A small-sample study examining the cervical spine in symptom-free volunteers has found focal disc protrusions in 50% of participants, which suggests that a considerable part of the population can have focal herniated discs in their cervical region that do not cause noticeable symptoms.
A prolapsed disc in the lumbar spine can cause radiating nerve pain. This type of pain is usually felt in the lower extremities or groin area. Radiating nerve pain caused by a prolapsed disc can also cause bowel and bladder incontinence.
Typically, symptoms are experienced only on one side of the body. If the prolapse is very large and presses on the nerves within the spinal column or the cauda equina, both sides of the body may be affected, often with serious consequences. Compression of the cauda equina can cause permanent nerve damage or paralysis. The nerve damage can result in loss of bowel and bladder control as well as sexual dysfunction. This disorder is called cauda equina syndrome.
Other complications include chronic pain.
Tethered spinal cord can be caused by various conditions but the main cause is when tissue attachments limit the movement of the spinal cord in the spinal column which causes abnormal stretching of the cord. The tethered spinal cord syndrome is correlated with having the causes:
- Spina bifida
- Occulta
- Mylomeningocele
- Meningocele
- History of spinal trauma
- History of spinal surgery
- Tumor(s) in the spinal column
- Thickened and/or tight filum terminale
- Lipoma(s) in the spinal column
- Dermal Sinus Tract (congenital deformity)
- Diastematomyelia (split spinal cord)
Tethered spinal cord is a disorder and not a mechanism so it does not spread to other people and there are no measures that can be done to prevent it beforehand. The only preventative measure that is successful is to surgically untether the spinal cord though there might already be irreversible damage.
Basilar invagination is invagination (infolding) of the base of the skull that occurs when the top of the C2 vertebra migrates upward. It can cause narrowing of the foramen magnum (the opening in the skull where the spinal cord passes through to the brain). It also may press on the lower brainstem.
This is similar to Chiari malformation. That, however, is usually present at birth.
Spondylosis is a broad term meaning degeneration of the spinal column from any cause. In the more narrow sense it refers to spinal osteoarthrosis, the age-related wear and tear of the spinal column, which is the most common cause of spondylosis. The degenerative process in osteoarthritis chiefly affects the vertebral bodies, the neural foramina and the facet joints (facet syndrome). If severe, it may cause pressure on the spinal cord or nerve roots with subsequent sensory or motor disturbances, such as pain, paresthesia, imbalance, and muscle weakness in the limbs.
When the space between two adjacent vertebrae narrows, compression of a nerve root emerging from the spinal cord may result in radiculopathy (sensory and motor disturbances, such as severe pain in the neck, shoulder, arm, back, or leg, accompanied by muscle weakness). Less commonly, direct pressure on the spinal cord (typically in the cervical spine) may result in myelopathy, characterized by global weakness, gait dysfunction, loss of balance, and loss of bowel or bladder control. The patient may experience shocks (paresthesia) in hands and legs because of nerve compression and lack of blood flow. If vertebrae of the neck are involved it is labelled cervical spondylosis. Lower back spondylosis is labeled lumbar spondylosis. The term is from Ancient Greek σπόνδυλος "spóndylos", "a vertebra", in plural "vertebrae – the backbone".
Any of the factors below may cause the spaces in the spine to narrow.
- Spinal ligaments can thicken ("ligamenta flava")
- Bone spurs develop on the bone and into the spinal canal or foraminal openings
- Intervertebral discs may bulge or herniate into the canal or foraminal openings
- Degenerative disc disease causes narrowing of the spaces
- Facet joints break down
- Compression fractures of the spine, which are common in osteoporosis
- Cysts form on the facet joints causing compression of the spinal sac of nerves (thecal sac)
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with bending forwards. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.
Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia. It can be classified by the part of the spine affected into cervical, thoracic, and lumbar stenosis. Lumbar stenosis is the most common followed by cervical stenosis. Diagnosis is generally based on symptoms and medical imaging.
Treatment may involve medications, bracing, or surgery. Medications may include NSAIDs, acetaminophen, or steroid injections. Stretching and strengthening exercises may also be useful. Limiting certain activities may be recommended. Surgery is typically only done if other treatments are not affected, with the usual procedure being a decompressive laminectomy.
Spinal stenosis occurs in as many as 8% of people. It occurs most commonly in people over the age of 50. Males and females are affected equally commonly. The first modern description of the condition is from 1803 by Antoine Portal. Evidence of the condition, however, dates back to Ancient Egypt.
Including the symptoms listed above, clinical presentations of "wobblers" can also include neck pain and stiffness, difficulty tracking up or gait abnormalities, decreased performance, intermittent or swapping lameness particularly in diagonal pairs, forelimb lameness, abnormal head and neck posture, defensiveness or change in behavior, and abnormal sweat patterns.
Clinical signs and symptoms depend on which spinal cord level (cervical, thoracic or lumbar) is affected and the extent (anterior, posterior or lateral) of the pathology, and may include:
- upper motor neuron signs—weakness, spasticity, clumsiness, altered tonus, hyperreflexia and pathological reflexes, including Hoffmann's sign and inverted Plantar reflex (positive Babinski sign);
- lower motor neuron signs—weakness, clumsiness in the muscle group innervated at the level of spinal cord compromise, muscle atrophy, hyporeflexia, muscle hypotonicity or flaccidity, fasciculations;
- sensory deficits;
- bowel/bladder symptoms and sexual dysfunction.
Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of pain, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms. Each patient experiences a different combination of symptoms. These symptoms typically vary depending on the extent and, often more critically, to the location of the syrinx within the spinal cord.
Syringomyelia has a prevalence estimated at 8.4 cases per 100,000 people, with symptoms usually beginning in young adulthood. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing, straining, or myelopathy.
The onset of myelomalacia may be so subtle that it is overlooked. Depending on the extent of the spinal cord injury, the symptoms may vary. In some cases, the symptom may be as common as hypertension. Though every case is different, several cases reported loss of motor functions in the extremities, areflexia or sudden jerks of the limbs, loss of pain perception, or even paralysis; all of which are possible indicators of a damaged and softened spinal cord. In the most severe cases, paralysis of the respiratory system manifests in death.
Wobbler disease is a catchall term referring to several possible malformations of the cervical vertebrae that cause an unsteady (wobbly) gait and weakness in dogs and horses. A number of different conditions of the cervical (neck) spinal column cause similar clinical signs. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae. Wobbler disease is also known as cervical vertebral instability, cervical spondylomyelopathy (CSM), and cervical vertebral malformation (CVM). In dogs, the disease is most common in large breeds, especially Great Danes and Doberman Pinschers. In horses, it is not linked to a particular breed, though it is most often seen in tall, race-bred horses of Thoroughbred or Standardbred ancestry. It is most likely inherited to at least some extent in dogs and horses.
Retrolisthesis may lead to symptoms of greatly varying intensity and distribution. This is because of the variable nature of the impact on nerve tissue and of the mechanical impact on the spinal joints themselves.
Structural instability may be Experienced as a local uneasiness through to a more far reaching structural compensatory distortion involving the whole spine. If the joints are stuck in a retrolisthesis configuration there may also be changes to range of motion.
Pain may be experienced as a result of irritation to the sensory nerve roots by bone depending on the degree of displacement and the presence of any rotatory positioning of the individual spinal motion segments. The soft tissue of the disc is often caused to bulge in retrolistheses. These cannot be determined by plain films, as the x-ray passes through the soft tissue. A study by Giles et al., stated that Sixteen of the thirty patients (53%) had retrolisthesis of L5 on S1 ranging from 2–9 mm; these patients had either intervertebral disc bulging or protrusion on CT examination ranging from 3–7 mm into the spinal canal. Fourteen patients (47%) without retrolisthesis (control group) did not show any retrolisthesis and the CT did not show any bulge/protrusion. On categorizing x-ray and CT pathology as being present or not, the well positioned i.e. true lateral plain x-ray film revealed a sensitivity and specificity of 100% ([95% Confidence Interval. = [89%–100%]) for bulge/protrusion in this preliminary study.” ()
Spinal cord compressions are also possible with patients experiencing pain, rigidity and neurologic signs that may follow some distance along nerves to cause symptoms at some distance from the location of the retrolisthesis.
A retrolisthesis is a posterior displacement of one vertebral body with respect to the subjacent vertebra to a degree less than a luxation (dislocation). Clinically speaking, retrolisthesis is the opposite of spondylolisthesis (anterior displacement of one vertebral body on the subjacent vertebral body), and is also called retrospondylolisthesis. Retrolistheses are most easily diagnosed on lateral x-ray views of the spine. Views, where care has been taken to expose for a true lateral view without any rotation, offer the best diagnostic quality.
Retrolistheses are found most prominently in the cervical spine and lumbar region but can also be seen in the thoracic area.
Intradural disc herniation is a rare form of disc herniation with an incidence of 0.2-2.2%. Preoperative imaging can be helpful, but intraoperative findings are required to confirm.
Symptoms usually occur very quickly and are often experienced within one hour of the initial damage. MRI can detect the magnitude and location of the damage 10–15 hours after the initiation of symptoms. Diffusion-weighted imaging may be used as it is able to identify the damage within a few minutes of symptomatic onset.
Clinical features include paraparesis or quadriparesis (depending on the level of the injury) and impaired pain and temperature sensation. Complete motor paralysis below the level of the lesion due to interruption of the corticospinal tract, and loss of pain and temperature sensation at and below the level of the lesion. Proprioception and vibratory sensation is preserved, as it is in the dorsal side of the spinal cord.