Syringomyelia: Causes, Symptoms & Treatment

What Is Syringomyelia?

Syringomyelia is a rare neurological condition that affects the spinal cord. It occurs when a fluid-filled cyst, known as a syrinx, forms within the spinal cord tissue. As the syrinx grows, it can cause damage to the surrounding nerves, leading to a range of symptoms that may worsen over time. The severity and progression of syringomyelia can vary from person to person, depending on the size and location of the syrinx.

How Syringomyelia Develops

Syringomyelia develops when the normal flow of cerebrospinal fluid (CSF) around the brain and spinal cord is disrupted. CSF is a clear, colourless liquid that cushions and protects the central nervous system. When an underlying condition interferes with CSF circulation, the fluid can accumulate abnormally within the spinal cord, gradually forming a syrinx. As the syrinx grows, it puts pressure on the spinal cord tissue, causing damage and neurological symptoms.

Types of Syringomyelia

Congenital Syringomyelia (Chiari Malformation)

he most common form of syringomyelia is linked to Chiari malformation type I, a condition where the cerebellar tonsils extend into the spinal canal and obstruct CSF flow. In this condition, a portion of the brain tissue (the cerebellar tonsils) extends downward through the opening at the base of the skull, crowding the spinal canal. This abnormality can obstruct CSF flow, leading to syrinx formation. Symptoms of Chiari malformation-related syringomyelia often appear in adolescence or young adulthood, although they can develop at any age.

Acquired Syringomyelia

Acquired syringomyelia develops as a result of other conditions that directly affect the spinal cord. These may include spinal cord injuries (trauma), spinal tumours, infections (such as meningitis), and inflammatory conditions (like arachnoiditis). These underlying causes can disrupt normal CSF circulation, sometimes leading to syrinx formation months or even years after the initial injury to the spinal cord.

Idiopathic Syringomyelia

Rarely, syringomyelia develops without an identifiable cause despite thorough evaluation. These cases are termed idiopathic, though mechanisms remain poorly understood. This type is known as idiopathic syringomyelia. The mechanisms underlying syrinx formation in these cases are not well understood, and further research is needed to elucidate potential contributing factors.

Symptoms of Syringomyelia

According to the National Institute of Neurological Disorders, syringomyelia symptoms can differ from person to person. This depends on the location, size, and length of the syrinx. Symptoms usually develop gradually, may worsen over several years, and can affect one or both sides of the body.

Early Symptoms

• Selective loss of pain and temperature sensation, especially in the hands and arms, while touch and vibration may be preserved (dissociated sensory loss).
• Muscle weakness in the arms, hands, or shoulders
• Neck or back pain
• Headaches, sometimes worsened by coughing or straining

Progressive Symptoms

• Stiffness or spasticity in the legs
• Loss of reflexes, particularly in the upper limbs
• Wasting (atrophy) of hand muscles
• Numbness or decreased sensitivity to hot and cold
• Development of scoliosis, especially in children or adolescents with syringomyelia

Severe Symptoms

• Chronic pain and severe weakness
• Difficulty walking or uncoordinated movements (ataxia)
• Loss of bowel or bladder control
• Paralysis in severe, untreated cases

Causes of Syringomyelia

Chiari Malformation (Most Common)

Chiari malformation is the leading cause of syringomyelia, accounting for most congenital or primary cases diagnosed in clinical practice. In this congenital condition, the lower part of the brain (cerebellum) extends into the spinal canal, narrowing the passage for CSF and increasing the risk of syrinx formation. The resulting pressure changes and CSF flow obstruction can lead to the development of a syrinx over time.

Spinal Cord Injury

Trauma to the spinal cord, such as from a car accident or a severe fall, can disrupt normal CSF flow patterns. In some cases, this disruption can lead to the formation of a syrinx months or even years after the initial injury. This type of syringomyelia is known as posttraumatic syringomyelia.

Spinal Tumours

Both benign and malignant tumours growing within or near the spinal cord can obstruct CSF pathways. This obstruction can cause CSF to accumulate abnormally, potentially leading to syrinx formation above the level of the blockage.

Infections or Inflammation

Certain infections, such as meningitis, or chronic inflammatory conditions like arachnoiditis, can cause scarring and blockage of CSF flow. If the infection or inflammation involves the membranes surrounding the spinal cord, it may increase the risk of developing syringomyelia.

Risk Factors for Syringomyelia

While anyone can potentially develop syringomyelia, certain factors may increase an individual's risk:

• Congenital brain or spinal malformations, especially Chiari malformation
• History of spinal cord injury
• Spinal cord cysts or tumours
• Prior central nervous system infections or inflammation
• Genetic predisposition to certain developmental abnormalities
• Slight male predominance has been reported in some series

Complications of Syringomyelia

If left untreated, syringomyelia can lead to several serious complications:

• Progressive, irreversible spinal cord damage
• Chronic pain and disability
• Muscle wasting and weakness
• Scoliosis
• Bowel and bladder dysfunction
• Paralysis (in severe, untreated cases)

How Syringomyelia is Diagnosed

1. Medical History & Physical Exam

The process for syringomyelia diagnosis begins with a thorough medical history and neurological examination. Your doctor will ask about your symptoms, their onset and progression, and any relevant medical history. During the physical exam, they will assess your muscle strength, reflexes, and sensory function, looking for patterns of deficits that suggest spinal cord involvement.

2. MRI Scan

Magnetic Resonance Imaging (MRI) is the gold standard for syringomyelia diagnosis. This non-invasive imaging technique provides detailed images of the spinal cord and surrounding structures. An MRI scan can reveal the presence, size, and location of a syrinx, as well as any associated abnormalities such as a Chiari malformation or spinal tumours. The scan is painless and does not involve radiation exposure.

3. CT Scan or Myelogram

In some cases, particularly if MRI is unavailable or contraindicated, a Computed Tomography (CT) scan or myelogram may be used to evaluate the spinal cord. These tests can help identify bony abnormalities, tumours, or disruptions in cerebrospinal fluid flow. However, they are generally less sensitive than MRI for detecting syrinxes.

Treatment for Syringomyelia

Observation (No Immediate Surgery)

In cases with mild, stable symptoms and no evidence of progressive neurological damage, a "watch-and-wait" approach may be recommended. This involves regular clinical and imaging follow-up to monitor for any changes or deterioration. If syringomyelia symptoms remain stable and the syrinx does not enlarge, immediate surgical intervention may not be necessary.

Surgical Treatment

The specific surgical procedure depends on the underlying cause:

• Decompression surgery for Chiari malformation (removal of bone at the skull base to restore CSF flow).
• Surgical removal of spinal tumours.
• Syrinx drainage (e.g., syringosubarachnoid or syringopleural shunting) may be considered in selected refractory cases but is generally reserved for patients where decompression or tumour removal does not restore CSF flow.
• Lysis of adhesions in cases of arachnoiditis or scarring.

Medications

While medications are not prescribed for syrinx treatment directly, they can be used to manage pain and muscle-related symptoms. Pain relievers, muscle relaxants, and anti-spasticity drugs may be prescribed to improve the quality of life for those with chronic symptoms. However, these medications should be used in conjunction with other treatments and under the guidance of a healthcare provider.

Lifestyle and Home Care Tips

• Engage in regular, gentle physical activity as tolerated.
• Use assistive devices if needed for mobility or safety.
• Avoid activities that may strain the neck or spine.
• Practise good posture and ergonomics.
• Participate in physical therapy to maintain muscle strength and flexibility.
• Seek counselling or support groups for coping with chronic illness.

Prevention of Syringomyelia

• Early detection and treatment of Chiari malformations or spinal tumours
• Prompt management of spinal cord injuries
• Vaccination and preventive care to reduce the risk of CNS infections
• Regular monitoring for those at increased risk (e.g., individuals with known congenital abnormalities)

When to See a Doctor

• Persistent pain, weakness, or stiffness in the back, arms, or legs
• Loss of sensation, especially to pain and temperature
• Headaches that worsen with coughing or straining
• Difficulty walking or loss of coordination
• Changes in bowel or bladder function

Living with Syringomyelia: Coping Strategies

• Educate yourself about the condition and its management.
• Communicate openly with your healthcare team.
• Follow your syringomyelia treatment plan and attend regular follow-up appointments.
• Seek support from family, friends, or support groups.
• Prioritise self-care and stress management techniques.
• Adapt your environment and activities as needed to maintain independence and quality of life.

Conclusion

Syringomyelia is a serious spinal cord disorder that involves a fluid-filled syrinx in the spinal cord, with pain, weakness, and sensory changes as common symptoms. While there is no definitive cure, surgical decompression and long-term monitoring can help address the underlying cause, reduce syrinx size, and prevent or limit further neurological damage.

Syringomyelia is a complex neurological condition that can affect your quality of life, making a timely diagnosis essential. At Metropolis Healthcare, we prioritise accurate testing and personalised care. Our skilled team offers at-home sample collection, with results delivered securely online. Through a network of over 220 laboratories and 4,600 service centres across India, we provide reliable, timely testing wherever you are. Backed by a CAP proficiency score exceeding 98%, we are committed to helping you and your family take confident, proactive steps for your health.

FAQs

1. Is syringomyelia life-threatening?

While syringomyelia itself is rarely life-threatening, severe cases can lead to serious complications if left untreated. Prompt diagnosis and appropriate treatment are essential for preventing these complications and preserving quality of life.

2. Can syringomyelia go away on its own?

In most cases, syringomyelia does not resolve spontaneously. The syrinx may remain stable in some individuals, but it often tends to gradually enlarge over time, causing progressive neurological symptoms. Syringomyelia treatment is typically necessary to prevent further damage to the spinal cord and manage symptoms effectively.

3. What is the most common cause of syringomyelia?

The most common cause of syringomyelia is Chiari malformation, a congenital structural defect where a portion of the brain tissue extends into the spinal canal. This abnormality can obstruct the normal flow of cerebrospinal fluid, leading to the formation of a syrinx within the spinal cord.

4. Can syringomyelia be prevented?

While not all cases of syringomyelia can be prevented, certain measures may help reduce the risk or prevent complications. These include early detection and treatment of underlying conditions, like Chiari malformations or spinal tumours, prompt management of spinal cord injuries, vaccination and preventive care.

5. What happens if syringomyelia is left untreated?

If syringomyelia is left untreated, the syrinx can continue to enlarge, causing progressive damage to the spinal cord. This can lead to worsening neurological symptoms, such as chronic pain, muscle weakness and wasting, loss of sensation, and difficulties with coordination and balance.

References

• https://www.ninds.nih.gov/health-information/disorders/syringomyelia
• https://my.clevelandclinic.org/health/diseases/6126-syringomyelia
• https://rarediseases.org/rare-diseases/syringomyelia/
• https://www.physio-pedia.com/Syringomyelia
• https://www.webmd.com/brain/what-is-syringomyelia