Syringomyelia

A rare neurological disorder characterized by fluid-filled cysts within the spinal cord that can cause progressive symptoms

Contents

Common Symptoms

Overview

Syringomyelia is a rare neurological disorder characterized by the development of fluid-filled cysts, called syrinxes, within the spinal cord. These cysts can expand over time, putting pressure on the surrounding spinal cord tissue and causing progressive neurological symptoms. The condition affects approximately 8.4 per 100,000 people, making it a relatively uncommon but significant medical condition.

The syrinx typically develops in the cervical (neck) or thoracic (upper back) regions of the spinal cord, though it can occur at any level. As the cyst grows, it can damage the nerve fibers that carry signals between the brain and the rest of the body, leading to a variety of symptoms including weakness, pain, and sensory changes.

Syringomyelia can be classified into two main types: primary (idiopathic) syringomyelia, which has no identifiable cause, and secondary syringomyelia, which develops as a result of other conditions such as Chiari malformation, spinal cord tumors, or traumatic injuries. The secondary form is more common, accounting for approximately 90% of all cases.

Early diagnosis and appropriate treatment are crucial for preventing irreversible neurological damage. While syringomyelia is a chronic condition that typically progresses slowly over years, with proper management, many patients can maintain a good quality of life and prevent further deterioration of neurological function.

Symptoms

The symptoms of syringomyelia can vary significantly depending on the location, size, and extent of the syrinx within the spinal cord. Symptoms typically develop gradually over months to years and may worsen progressively if left untreated.

Early Symptoms

  • Back pain: Often the first symptom, typically located in the neck, shoulders, or upper back
  • Shoulder pain: Chronic pain that may be unilateral or bilateral
  • Headache: Often worse with coughing, straining, or sudden movements
  • Neck stiffness: Reduced range of motion and discomfort with neck movement
  • Temperature sensation changes: Decreased ability to feel hot or cold, particularly in the hands

Progressive Neurological Symptoms

  • Muscle weakness: Progressive weakness, typically starting in the hands and arms
  • Muscle atrophy: Wasting of muscles, particularly in the hands and forearms
  • Loss of reflexes: Diminished or absent deep tendon reflexes
  • Sensory loss: Decreased sensation to touch, pain, and temperature
  • Pain and temperature dissociation: Loss of pain and temperature sensation while touch remains intact

Advanced Symptoms

  • Fainting or dizziness: Episodes of syncope or lightheadedness
  • Bladder dysfunction: Difficulty with urination or urinary incontinence
  • Bowel dysfunction: Constipation or loss of bowel control
  • Sexual dysfunction: Decreased sensation or function
  • Respiratory problems: Difficulty breathing, especially during sleep

Specific Symptom Patterns

  • Cape-like distribution: Loss of pain and temperature sensation over the shoulders and upper arms, resembling a cape
  • Horner's syndrome: Drooping eyelid, constricted pupil, and decreased sweating on one side of the face
  • Charcot joints: Painless joint damage due to loss of sensation
  • Scoliosis: Curvature of the spine, particularly in children and adolescents

Associated Symptoms with Chiari Malformation

  • Occipital headaches: Headaches at the back of the head
  • Neck pain: Pain radiating from the base of the skull
  • Balance problems: Difficulty with coordination and balance
  • Swallowing difficulties: Problems with eating and drinking
  • Sleep apnea: Breathing problems during sleep

Causes

Syringomyelia can develop through various mechanisms, and understanding these causes is important for proper diagnosis and treatment planning.

Primary (Idiopathic) Syringomyelia

  • Unknown origin: No identifiable underlying cause can be found
  • Developmental factors: May be related to abnormal spinal cord development
  • Genetic predisposition: Possible inherited susceptibility factors
  • Congenital abnormalities: Subtle structural abnormalities present from birth

Secondary Syringomyelia - Chiari Malformation

  • Chiari I malformation: Most common cause, where brain tissue extends into the spinal canal
  • Abnormal CSF flow: Disrupted cerebrospinal fluid circulation around the brainstem
  • Pressure changes: Altered pressure dynamics in the spinal canal
  • Pulsatile forces: Abnormal pressure waves transmitted to the spinal cord

Traumatic Causes

  • Spinal cord injury: Previous trauma causing scarring and altered fluid dynamics
  • Post-traumatic cysts: Formation of fluid-filled cavities after injury
  • Arachnoiditis: Inflammation of spinal cord coverings following trauma
  • Hemorrhage: Bleeding within the spinal cord creating cavities

Neoplastic Causes

  • Spinal cord tumors: Both benign and malignant tumors can cause syrinx formation
  • Intramedullary tumors: Tumors within the spinal cord itself
  • Extramedullary tumors: Tumors outside the spinal cord causing compression
  • Tumor-associated cysts: Cystic changes associated with tumor growth

Infectious Causes

  • Spinal meningitis: Infection of the spinal cord coverings
  • Arachnoiditis: Inflammatory reaction to infection
  • Abscess formation: Collection of infected material within the spinal cord
  • Post-infectious scarring: Scar tissue formation after infection resolution

Other Causes

  • Spinal stenosis: Narrowing of the spinal canal
  • Tethered cord syndrome: Abnormal attachment of the spinal cord
  • Arachnoid cysts: Fluid-filled sacs around the spinal cord
  • Vascular malformations: Abnormal blood vessel connections

Risk Factors

Several factors may increase the likelihood of developing syringomyelia or experiencing progression of existing symptoms.

Demographic Risk Factors

  • Age: Most commonly diagnosed between ages 20-40, though it can occur at any age
  • Gender: Slight male predominance, particularly in post-traumatic cases
  • Family history: Rare familial cases have been reported
  • Genetic factors: Certain genetic conditions may predispose to syrinx formation

Congenital Risk Factors

  • Chiari malformation: Present in 90% of patients with syringomyelia
  • Spina bifida: Neural tube defects affecting spinal cord development
  • Tethered cord syndrome: Abnormal fixation of the spinal cord
  • Scoliosis: Spinal curvature abnormalities
  • Connective tissue disorders: Conditions affecting tissue strength and flexibility

Acquired Risk Factors

  • Spinal cord trauma: Previous injury to the spinal cord
  • Spinal surgery: History of spinal operations
  • Meningitis: Previous infection of the nervous system
  • Spinal tumors: Both primary and metastatic tumors
  • Arachnoiditis: Inflammation of spinal cord coverings

Activity-Related Risk Factors

  • Contact sports: Activities with high risk of spinal injury
  • High-impact activities: Sports or activities causing spinal stress
  • Occupational hazards: Jobs with increased risk of spinal injury
  • Motor vehicle accidents: Trauma from automotive collisions

Medical Risk Factors

  • Previous neurosurgery: History of brain or spinal surgery
  • Radiation therapy: Previous radiation to the spine or brain
  • Chronic infections: Ongoing or recurrent spinal infections
  • Autoimmune conditions: Disorders affecting the nervous system

Diagnosis

Diagnosing syringomyelia requires a comprehensive approach combining clinical assessment, neurological examination, and advanced imaging studies.

Clinical History

  • Symptom timeline: Detailed history of symptom onset and progression
  • Pain characteristics: Location, quality, and triggers of pain
  • Neurological symptoms: Weakness, numbness, and sensory changes
  • Functional impact: Effect on daily activities and quality of life
  • Family history: History of neurological conditions in relatives

Physical Examination

  • General inspection: Assessment of posture, gait, and general appearance
  • Spinal examination: Evaluation of spinal alignment and deformities
  • Range of motion testing: Assessment of neck and back flexibility
  • Muscle strength testing: Systematic evaluation of muscle groups
  • Muscle atrophy assessment: Evaluation of muscle wasting patterns

Neurological Examination

  • Sensory testing: Assessment of touch, pain, temperature, and vibration sensation
  • Reflex testing: Evaluation of deep tendon reflexes
  • Cranial nerve examination: Assessment of brain nerve function
  • Coordination testing: Evaluation of balance and motor coordination
  • Gait analysis: Assessment of walking pattern and stability

Imaging Studies

  • MRI of the spine: Gold standard for visualizing syrinx and associated abnormalities
  • MRI of the brain: To identify Chiari malformation or other brain abnormalities
  • Cine MRI: Dynamic imaging to assess cerebrospinal fluid flow
  • CT myelography: Alternative imaging when MRI is not possible
  • Plain X-rays: To assess spinal alignment and bony abnormalities

Specialized Testing

  • Electromyography (EMG): Assessment of muscle and nerve function
  • Nerve conduction studies: Evaluation of nerve signal transmission
  • Somatosensory evoked potentials: Testing of sensory pathway function
  • Urodynamic studies: Assessment of bladder function

Laboratory Tests

  • Complete blood count: To rule out infection or other systemic conditions
  • Inflammatory markers: ESR and CRP to assess for inflammation
  • Cerebrospinal fluid analysis: If infection or inflammation is suspected
  • Tumor markers: If malignancy is suspected

Differential Diagnosis

  • Multiple sclerosis
  • Spinal cord tumors
  • Amyotrophic lateral sclerosis (ALS)
  • Cervical spondylotic myelopathy
  • Vitamin B12 deficiency

Treatment Options

Treatment of syringomyelia depends on the underlying cause, severity of symptoms, and rate of progression. The primary goals are to halt progression, relieve symptoms, and preserve neurological function.

Conservative Management

  • Observation: Regular monitoring for asymptomatic or stable cases
  • Pain management: Medications to control chronic pain
  • Physical therapy: Exercises to maintain strength and flexibility
  • Occupational therapy: Adaptive techniques for daily activities
  • Activity modification: Avoiding activities that worsen symptoms

Medications

  • Neuropathic pain medications: Gabapentin, pregabalin, or duloxetine
  • Muscle relaxants: Baclofen or tizanidine for spasticity
  • Anti-inflammatory drugs: NSAIDs for pain and inflammation
  • Antispasmodics: Medications to reduce muscle spasms
  • Sleep aids: For sleep disturbances related to pain

Surgical Treatment

  • Posterior fossa decompression: For Chiari malformation-associated syringomyelia
  • Syringopleural shunt: Drainage of syrinx fluid to the pleural cavity
  • Syringoperitoneal shunt: Drainage of syrinx fluid to the abdominal cavity
  • Direct syrinx drainage: Surgical opening and drainage of the cyst
  • Tumor removal: Surgical excision of causative tumors

Specific Surgical Procedures

  • Suboccipital craniectomy: Removal of bone at the base of the skull
  • C1 laminectomy: Removal of the first cervical vertebra arch
  • Duraplasty: Enlargement of the dural covering
  • Arachnoid dissection: Division of adhesions around the spinal cord
  • Foramen magnum decompression: Enlargement of the opening at the skull base

Post-Surgical Care

  • Hospital monitoring: Close observation for complications
  • Pain management: Appropriate pain control measures
  • Neurological monitoring: Assessment of neurological function
  • Wound care: Proper surgical site management
  • Early mobilization: Gradual return to activity

Rehabilitation

  • Physical therapy: Strengthening and mobility exercises
  • Occupational therapy: Functional training and adaptive equipment
  • Speech therapy: For swallowing or communication difficulties
  • Respiratory therapy: For breathing difficulties
  • Psychological support: Counseling for adjustment and coping

Long-term Management

  • Regular follow-up: Periodic neurological assessments
  • Imaging surveillance: MRI monitoring of syrinx size
  • Symptom monitoring: Tracking of neurological symptoms
  • Complications management: Treatment of associated problems
  • Quality of life support: Resources for ongoing care needs

Prevention

While primary syringomyelia cannot be prevented, certain measures can reduce the risk of secondary syringomyelia and help prevent progression of existing conditions.

Injury Prevention

  • Safety equipment: Use of appropriate protective gear during sports and activities
  • Safe driving practices: Wearing seatbelts and following traffic safety rules
  • Fall prevention: Home safety measures and environmental modifications
  • Workplace safety: Following occupational safety guidelines
  • Sports safety: Proper training and technique in athletic activities

Early Detection and Management

  • Regular medical care: Routine check-ups and health screenings
  • Prompt treatment of infections: Early antibiotic treatment for spinal infections
  • Monitoring high-risk conditions: Regular assessment of Chiari malformation
  • Genetic counseling: For families with hereditary conditions

Lifestyle Modifications

  • Healthy lifestyle: Regular exercise and proper nutrition
  • Weight management: Maintaining healthy body weight
  • Stress management: Techniques to reduce physical and emotional stress
  • Avoiding risk factors: Limiting activities that increase injury risk

Secondary Prevention

  • Early intervention: Prompt treatment of symptoms to prevent progression
  • Regular monitoring: Scheduled follow-up appointments and imaging
  • Complication prevention: Measures to prevent secondary complications
  • Education: Understanding warning signs and when to seek care

Symptom Prevention

  • Activity modification: Avoiding activities that worsen symptoms
  • Posture awareness: Maintaining proper posture and body mechanics
  • Environmental modifications: Adapting home and work environments
  • Temperature precautions: Protection from temperature extremes

When to See a Doctor

Early recognition and prompt medical evaluation are crucial for optimal outcomes in syringomyelia. Knowing when to seek medical attention can help prevent irreversible neurological damage.

Seek Emergency Care Immediately

  • Sudden onset of severe neurological symptoms
  • Rapid progression of weakness or paralysis
  • Loss of bladder or bowel control
  • Severe breathing difficulties
  • Sudden loss of consciousness or fainting episodes
  • Severe headache with neck stiffness
  • Complete loss of sensation in arms or hands
  • Inability to swallow or speak clearly

Schedule Urgent Medical Attention

  • Progressive weakness: Gradual worsening of muscle strength
  • Sensory changes: New or worsening numbness or tingling
  • Chronic pain: Persistent neck, shoulder, or back pain
  • Temperature sensation loss: Inability to feel hot or cold
  • Coordination problems: Difficulty with balance or fine motor skills
  • Headaches: Persistent or worsening headaches

Regular Follow-up Indications

  • Known syringomyelia: Regular monitoring of existing condition
  • Chiari malformation: Surveillance for syrinx development
  • Previous spinal trauma: Long-term monitoring for complications
  • Family history: Screening for at-risk individuals
  • Symptom changes: Any new or changing neurological symptoms

Pre-Surgical Evaluation

  • Worsening symptoms despite conservative treatment
  • Progressive neurological deficits
  • Enlarging syrinx on imaging studies
  • Functional decline affecting quality of life
  • Development of new complications

Warning Signs of Complications

  • Worsening pain or new pain patterns
  • Changes in bowel or bladder function
  • Respiratory difficulties or sleep apnea
  • Swallowing problems or choking episodes
  • Skin breakdown or injury due to sensory loss
  • Joint problems or deformities

Related Conditions

Syringomyelia is often associated with other neurological and spinal conditions that may share similar symptoms or contribute to its development:

Associated Malformations

Spinal Cord Disorders

Degenerative Conditions

Complications and Sequelae

Other Neurological Conditions

References

  1. Greenberg, J. K., Milner, E., Yarbrough, C. K., et al. (2016). Outcome methods used in clinical studies of syringomyelia: a systematic review. Journal of Neurosurgery: Spine, 25(6), 718-730.
  2. Klekamp, J. (2014). How should syringomyelia be defined and diagnosed? World Neurosurgery, 82(6), 1457-1470.
  3. Levine, D. N. (2004). The pathogenesis of syringomyelia associated with lesions at the foramen magnum: a critical review of existing theories and proposal of a new hypothesis. Journal of the Neurological Sciences, 220(1-2), 3-21.
  4. Milhorat, T. H., Chou, M. W., Trinidad, E. M., et al. (1999). Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery, 44(5), 1005-1017.
  5. Oldfield, E. H., Muraszko, K., Shawker, T. H., & Patronas, N. J. (1994). Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils. Journal of Neurosurgery, 80(1), 3-15.