Syringomyelia – What It Is, Why It Occurs, and How This Disease Manifests

The brain is our most complex organ, responsible for coordinating a large number of essential bodily functions. It is also involved in controlling limb movements through its connection with the spinal cord, located within the vertebral column. This is why some diseases that affect only the brain or only the spine impact both. This is the case with syringomyelia, which is fundamentally a neurological condition.

Next, we will explore syringomyelia, discussing its causes, associated symptoms, and available treatment options.

Syringomyelia – what it is and what are its symptoms?

What exactly is the definition of syringomyelia? Syringomyelia is a rare condition characterized by the formation of a fluid-filled cavity, called a syrinx, within the spinal cord. This fluid is cerebrospinal fluid, which normally protects the brain and spinal cord. In syringomyelia, the accumulation of this fluid in cysts can lead to compression and damage of the spinal cord. The disease is quite rare and develops only under certain conditions, such as blockage of normal cerebrospinal fluid flow, spinal cord trauma, or certain congenital malformations.

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Symptoms of Syringomyelia

Syringomyelia is a condition whose symptoms develop gradually over time. They can appear between adolescence and the age of 45, without manifesting suddenly or acutely. The disease’s progression is slow and progressive, and symptoms vary depending on the location where the syrinx (fluid-filled cavity in the spinal cord) forms.

Here are the main symptoms we might experience if we suffer from syringomyelia:

• headaches or cephalalgia;
• loss of thermal and pain sensitivity, especially in the hands, so we can no longer distinguish between hot and cold to the touch;
• pain in the arms and hands with a tingling or burning sensation;
• numbness in the extremities;
• muscle weakness, especially in the arms;
• stiffness in the back, shoulders, neck, arms, or legs;
• spasms of the lower limbs;
• loss of balance;
• ataxia or inability to coordinate movements when walking;
• urinary or fecal incontinence;
• sexual dysfunction.

In children, syringomyelia can have scoliosis or spinal deformity as a distinctive symptom. In adults, one sign is that stiffness appears equally on both sides of the neck or back. Rarely, the sensation will manifest on only one side.

Although these symptoms appear gradually, it is advisable to see a doctor promptly, as the disease can have serious complications.

Among these are:

• myelopathy, which is damage to the spinal cord and can lead to paralysis of the hands and feet;
• infections, especially in the lungs, such as pneumonia;
• decubitus or pressure ulcers;
• blood clot formation in the legs or deep vein thrombosis.

The symptoms of syringomyelia can differ from person to person, but they also depend on the severity of the disease. Additionally, some people may be asymptomatic, while in others, the disease can progress rapidly, causing paralysis.

But what are the causes of syringomyelia? Although not numerous, they are very important, as the type of disease we have is determined based on them.

Syringomyelia and its causes

Physical trauma is only one cause of syringomyelia, but the disease has several types. Therefore, it can also be caused by other factors. Among these are:

• spinal cord lesions caused by non-traumatic factors, such as tumors;
• circulatory disorders of cerebrospinal fluid;
• diseases such as meningitis and arachnoiditis;
• tethered cord syndrome;
• myelitis;
• congenital malformations.

Among the most common malformations associated with some cases of syringomyelia are Arnold-Chiari malformations types I and II. These involve the displacement of the lower part of the cerebellum through the opening that separates the skull from the cervical spinal canal. In some cases, complications such as spinal dysraphisms, which are defects in the closure of the vertebral arches, may also occur. This situation can lead to the formation of a cyst filled not only with cerebrospinal fluid but also with remnants of medullary tissue.

Regarding trauma, it can have effects years after it occurred, so it’s possible not to make the connection between them and the onset of syringomyelia.

There are also certain risk factors, including cranial or cervical malformations that can lead to syringomyelia. In pregnant women, folic acid deficiency can increase the risk of neural tube defects in the fetus.

Syringomyelia and its types

Syringomyelia has several types and can be classified by its causes or site of manifestation.

By cause, syringomyelia can be acquired or caused by external factors, but it can also be inherited. By site of manifestation, it can be cervical or thoracic. Regardless of the form of the disease, it can lead to severe disability, such as spinal curvature or scoliosis.

Cervical Syringomyelia

Cervical syringomyelia often occurs due to Chiari malformation. This leads to the formation of the syrinx in the cervical region of the spine. Cervical syringomyelia can also be accompanied by hydrocephalus or fluid accumulation in the cranial cavity. The latter is what leads to severe headaches when coughing or straining. Also, another symptom of it can be loss of consciousness, especially when the pain is severe.

The acquired form of cervical syringomyelia can be caused by diseases such as meningitis, arachnoiditis, and spinal cord tumors.

Thoracic Syringomyelia

Thoracic or dorsal syringomyelia usually develops in the thoracic region. The symptoms will be the same as in the cervical form. The only difference between the two is the location of the syrinx. Thoracic or dorsal syringomyelia can cause disorders that are felt both subcutaneously and at the skin level. Also, the pain experienced in this case can be in the form of a burning sensation, similar to peripheral neuropathy. As it progresses, the disease can affect motor fibers, leading to:

• weakness in the legs;
• muscle weakness;
• spasms in the legs;
• muscle atrophy;
• loss of reflexes in the hands and arms.

In most cases, dorsal muscle weakness is what leads to the formation of scoliosis. In fact, this is one of the most common signs of the disease. In children, it can appear at quite young ages.

Syringomyelia – diagnostic and treatment methods

Which doctor should we see if we have one of the symptoms described above? If we experience any of the signs of syringomyelia, we must consult a neurologist. The diagnostic process will begin with a medical examination and a detailed anamnesis. Subsequently, the fastest method to get a diagnosis is MRI, which can be performed with or without contrast medium, depending on the doctor’s recommendations.

An MRI can detect the following:

• whether there are spinal cord lesions;
• whether there are certain tumors in the spine or even in the brain;
• whether the syrinx has formed or not.

If the diagnosis is confirmed, the MRI will also show its size and location: cervical or thoracic.

In some situations, a computed tomography (CT) scan may also be performed, but most often, MRI is the most indicated examination.

Treatment of Syringomyelia

The treatment of syringomyelia largely depends on the severity of the symptoms and how quickly the disease has progressed. When it is asymptomatic, it is easier to treat, but such cases are discovered incidentally and do not require intervention. Instead, the condition will be monitored. For this purpose, periodic MRIs will be performed, and it is recommended to avoid strenuous physical activities. Physical therapy may also be indicated.

When syringomyelia symptoms are already present and the disease has not taken a severe form, the syrinx can be drained. Drainage is only possible if there are no Chiari malformations or tumors. The procedure can alleviate symptoms such as headaches. In cases of trauma, the doctor may remove the obstruction (bone fragment) that can lead to cyst formation.

Another approach to treating syringomyelia is surgery. The type of surgery will differ depending on the cause of the disease. The goal is to reduce pressure on the spinal cord and restore cerebrospinal fluid flow.

In the case of congenital syringomyelia associated with a Chiari malformation, the surgery involves removing a small part of the occipital bone. This creates more space so that the cerebellum no longer slides towards the craniovertebral junction.

In most cases, surgical treatment is successful. There are also situations where the cavity reforms, requiring further interventions.

Can Syringomyelia be prevented?

Given that this disease can become serious if not treated in time, it is important to know how to prevent it. Good news is that there are precautionary measures, especially for expectant mothers, who can take folic acid during pregnancy. Folic acid helps reduce the risk of neural tube defects in the fetus. However, if the disease has a genetic cause, its prevention is not possible, and the condition may manifest despite these measures.

For adults, the simplest method of preventing syringomyelia is to avoid spinal cord injuries. Also, in case of an accident, it is very important to investigate and treat pain and possible injuries.

Another important aspect is to see a doctor when experiencing pain, as syringomyelia can resemble hydromyelia. The latter also involves the formation of a cavity that fills with fluid, but an MRI can show the differences between the two.

Ultimately, in children, it is necessary to see a doctor at the first signs of scoliosis. Even though it might just be a poor posture that has led to spinal curvature, early diagnosis means a less invasive therapeutic approach, such as physical therapy.

In conclusion, syringomyelia is a rare but debilitating neurological condition that can occur for various reasons. These include congenital malformations, diseases like meningitis or arachnoiditis, or spinal cord trauma. It can also be inherited. Symptoms progress slowly and can worsen over a long period, and in children, the first sign is often scoliosis. The most common symptom of the disease is numbness in the hands. Diagnosis is made through MRI, and treatment consists of draining the cerebrospinal fluid-filled cavity or surgically removing the spinal cord obstruction.

References:

www.ninds.nih.gov/health-information/disorders/syringomyelia

www.ncbi.nlm.nih.gov/books/NBK537110/

https://www.mayoclinic.org/diseases-conditions/syringomyelia/symptoms-causes/syc-20354771

https://my.clevelandclinic.org/health/diseases/6126-syringomyelia

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