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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.
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.
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.
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.
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.
Testicular torsion usually presents with sudden, severe, testicular pain (in groin and lower abdomen) and tenderness. There is often associated nausea and vomiting. The testis may be higher than its normal position. Mild pyrexia and redness of overlying area may be found.
Some of the symptoms are similar to epididymitis though epididymitis may be characterized by discoloration and swelling of the testis, often with fever, while the cremasteric reflex is usually present. Testicular torsion, or more probably impending testicular infarction, can also produce a low-grade fever.
There is often an absent or decreased cremasteric reflex.
A nuchal cord occurs when the umbilical cord becomes wrapped around the fetal neck 360 degrees. Nuchal cords are common, with prevalence rates of 6% to 37%. Up to half of nuchal cords resolve before delivery.
Pain is the most common symptom at presentation. The symptoms seen are due to spinal nerve compression and weakening of the vertebral structure. Incontinence and decreased sensitivity in the "saddle area" (buttocks) are generally considered warning signs of spinal cord compression by the tumor. Other symptoms of spinal cord compression include lower extremity weakness, sensory loss, numbness in hands and legs and rapid onset paralysis. The diagnosis of primary spinal cord tumors is very difficult, mainly due to its symptoms, which tend to be wrongly attributed to more common and benign degenerative spinal diseases.
Spinal cord compression is commonly found in patients with metastatic malignancy. Back pain is a primary symptom of spinal cord compression in patients with known malignancy. It may prompt a bone scan to confirm or exclude spinal metastasis. Rapid identification and intervention of malignant spinal tumors, often causing spinal cord compression, is key to maintaining quality of life in patients.
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.
Symptoms suggestive of cord compression are back pain, a dermatome of increased sensation, paralysis of limbs below the level of compression, decreased sensation below the level of compression, urinary and fecal incontinence and/or urinary retention. Lhermitte's sign (intermittent shooting electrical sensation) and hyperreflexia may be present.
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.
Testicular torsion occurs when the spermatic cord (from which the testicle is suspended) twists, cutting off the testicle's blood supply. The most common symptom in children is rapid onset of severe testicular pain. The testicle may also be higher than usual and vomiting may occur. In newborns pain is often absent and instead the scrotum may become discolored or a testicle may disappear from its usual place.
Most of those affected have no obvious prior underlying health problems. Occasionally a tumor or prior trauma may be present. Risk factors include a congenital malformation known as a "bell-clapper deformity" wherein the testis is inadequately attached to the scrotum allowing it to move more freely and thus potentially twist. Cold temperatures may also be a risk factor. The diagnosis should usually be made based on the presenting symptoms. An ultrasound can be useful when the diagnosis is unclear.
Treatment is by physically untwisting the testicle, if possible, followed by surgery. Pain can be treated with opioids. Outcomes depends on time to correction. If done within six hours it is often good, however, if delayed for 12 or more hours the testicle is typically not salvageable. About 40% of people require removal of the testicle.
It is most common just after birth and during puberty. It occurs in about 1 in 4,000 to 1 in 25,000 males under 25 years of age each year. Of children with testicular pain of rapid onset, testicular torsion is the cause of about 10% of cases. Complications may include an inability to have children. The condition was first described in 1840 by Louis Delasiauve.
Hernias present as bulges in the groin area that can become more prominent when coughing, straining, or standing up. They are rarely painful, and the bulge commonly disappears on lying down. Mild discomfort can develop over time. The inability to "reduce", or place the bulge back into the abdomen usually means the hernia is 'incarcerated' which requires emergency surgery.
Significant pain is suggestive of strangulated bowel (an incarcerated indirect inguinal hernia).
As the hernia progresses, contents of the abdominal cavity, such as the intestines, liver, can descend into the hernia and run the risk of being pinched within the hernia, causing an intestinal obstruction. If the blood supply of the portion of the intestine caught in the hernia is compromised, the hernia is deemed "strangulated" and gut ischemia and gangrene can result, with potentially fatal consequences. The timing of complications is not predictable.
The first sign of umbilical cord prolapse is usually a sudden decrease in fetal heart rate that is severe and does not immediately resolve. On a fetal heart tracing, this would usually look like moderate to severe variable decelerations. Occasionally, the cord can be seen or felt on vaginal examination, particularly with overt cord prolapse.
The diagnosis of primary spinal cord tumors is difficult, mainly due to their symptoms, which in early stages mimic more common and benign degenerative spinal diseases. MRI and bone scanning are used for diagnostic purposes. This assesses not only the location of the tumor(s) but also their relationship with the spinal cord and the risk of cord compression.
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.
Umbilical cord compression may be relieved by the mother switching to another position. In persistent severe signs of fetal distress, Cesarean section may be needed.
Diagnosis is by X-rays but preferably magnetic resonance imaging (MRI) of the whole spine. The most common causes of cord compression are tumors, but abscesses and granulomas (e.g. in tuberculosis) are equally capable of producing the syndrome. Tumors that commonly cause cord compression are lung cancer (non-small cell type), breast cancer, prostate cancer, renal cell carcinoma, thyroid cancer, lymphoma and multiple myeloma.
Secondary hydroceles due to testicular diseases can be the result of cancer, trauma (such as a hernia), or orchitis (inflammation of testis), and can also occur in infants undergoing peritoneal dialysis. A hydrocele is not a cancer but it should be excluded clinically if a presence of a testicular tumor is suspected, however, there are no publications in the world literature that report a hydrocele in association with testicular cancer. Secondary hydrocele is most frequently associated with acute or chronic epididymo-orchitis. It is also seen with torsion of the testis and with some testicular tumors. A secondary hydrocele is usually lax and of moderate size: the underlying testis is palpable. A secondary hydrocele subsides when the primary lesion resolves.
- Acute/chronic epididymo-orchitis
- Torsion of testis
- Testicular tumor
- Hematocele
- Filarial hydrocele
- Post herniorrhaphy
- Hydrocele of an hernial sac
There are three types of umbilical prolapse that can occur:
- overt umbilical cord prolapse: descent of the umbilical cord past the presenting fetal part. In this case, the cord is through the cervix and into or beyond the vagina. Overt umbilical cord prolapse requires rupture of membranes. This is the most common type of cord prolapse.
- occult umbilical prolapse: descent of the umbilical cord alongside the presenting fetal part, but has not advanced past the presenting fetal part. Occult umbilical prolapse can occur with both intact or ruptured membranes.
- funic (cord) presentation: presence of the umbilical cord between the presenting fetal part and fetal membranes. In this case, the cord has not passed the opening of the cervix. In funic presentation, the membranes are not yet ruptured.
Differential diagnosis of the symptoms of inguinal hernia mainly includes the following potential conditions:
- Femoral hernia
- Epididymitis
- Testicular torsion
- Lipomas
- Inguinal adenopathy (Lymph node Swelling)
- Groin abscess
- Saphenous vein dilation, called Saphena varix
- Vascular aneurysm or pseudoaneurysm
- Hydrocele
- Varicocele
- Cryptorchidism (Undescended testes)
A hydrocele feels like a small fluid-filled balloon inside the scrotum. It is smooth, and is mainly in front of the testis. Hydroceles vary greatly in size and are typically painless and harmless. However, as the fluid continues to accumulate and the scrotum further enlarges, more discomfort can be expected. Large hydroceles will cause discomfort because of their size. Sometimes pain can be in both testicles as pressure from the enlarged area puts pressure against the unaffected area which can cause discomfort to the normal testicle. It has also been found to decrease a man's sex drive and makes him less active for fear of enlarging the mass. As the fluid of a hydrocele is transparent, light shone through the hydrocelic region will be visible from the other side. This phenomenon is called transillumination.
Symptoms of a hydrocele can easily be distinguished from testicular cancer, as a hydrocele is soft and fluid-filled, whereas testicular cancer feels hard and rough.
Treatment is determined based on the primary cause of anterior cord syndrome. When the diagnosis of anterior cord syndrome is determined, the prognosis is unfortunate. The mortality rate is approximately 20%, with 50% of individuals living with anterior cord syndrome having very little or no changes in symptoms.
On cardiotocography (CTG), umbilical cord compression can present with variable decelerations in fetal heart rate.
Foix–Alajouanine syndrome is a disorder caused by an arteriovenous malformation of the spinal cord. The patients present with symptoms indicating spinal cord involvement (paralysis of arms and legs, numbness and loss of sensation and sphincter dysfunction), and pathological examination reveals disseminated nerve cell death in the spinal cord and abnormally dilated and tortuous vessels situated on the surface of the spinal cord. Surgical treatment can be tried in some cases. If surgical intervention is contraindicated, corticosteroids may be used.
The condition is named after Charles Foix and Théophile Alajouanine.