What are the clinical manifestations of syringomyelia?

Clinical Manifestations of Syringomyelia

Syringomyelia is characterized by the presence of fluid-filled cystic cavities inside the spinal cord that can cause a range of neurological symptoms depending on the location and extent of the syrinx. 1

Sensory Manifestations

• Dissociated sensory loss: The most characteristic finding is loss of pain and temperature sensation with preservation of touch, vibration, and proprioception (due to damage to the crossing spinothalamic tracts)
• Sensory abnormalities typically:
  • Start distally in the legs and progress proximally over time
  • May present as "suspended" sensory loss with preserved sensation both above and below the affected area 2
• Paresthesias (abnormal sensations) in the upper and/or lower limbs 3

Motor Manifestations

• Progressive muscle weakness, typically beginning in the upper limbs
• Muscle atrophy, particularly in the hands and arms
• Decreased or absent reflexes in affected areas
• Development of "saber shins" (thinning of calf muscles) that may be misdiagnosed as Charcot-Marie-Tooth syndrome 2
• Progressive gait disturbances:
  • Previously ambulatory children may regress in mobility
  • Difficulty running and keeping up with peers during athletic activities
  • Eventual development of paraparesis or tetraparesis in advanced cases 4

Pain

• Pain is frequently reported and can be:
  • Dull and aching
  • Sharp, lancinating, or electrical in character
  • Dysesthetic (unpleasant abnormal sensation)
  • Aggravated by flexion/extension of the spine, walking, or running 2
• Pain in older teenagers and adults may radiate into the groin, genitals, and/or perianal region 2

Autonomic Dysfunction

• Dysautonomia affecting:
  • Bowel function (chronic constipation, fecal urgency/incontinence)
  • Bladder function (urinary urgency/incontinence, urinary tract infections, incomplete emptying, dribbling urinary stream, inability to void) 2
  • Skin changes (thin, shiny, hairless skin on legs and feet due to autonomic dysfunction) 2
• Rare cases of syncope due to syringomyelia-induced disruption of sympathetic fibers in the thoracic spinal cord 2, 1

Musculoskeletal Manifestations

• Progressive musculoskeletal deformities:
  • Scoliosis and exaggerated lumbosacral lordosis
  • Orthopedic deformities of the feet
  • Leg length discrepancies 2

Age-Specific Presentations

• Infants: Often asymptomatic; malformations may be recognized solely by associated cutaneous abnormalities 2
• Young children (<6 years): May present with nonspecific features such as:
  • Poorly localized pain
  • Refusal to bear weight
  • Irritability
  • Unsteady gait 2
• Older children and adults: More specific neurological symptoms as described above
• Adults with long-standing disease: Often have a history of subtle abnormalities dating back to childhood:
  • Always being "slow" athletically
  • Difficulties with chronic constipation
  • Late toilet training
  • Previously repaired orthopedic deformities 2

Associated Conditions

• Chiari malformation (most common association, detected in 25-50% of children with syringomyelia) 2, 5
• When associated with Chiari malformation, may present with:
  • Occipital or neck pain exacerbated by Valsalva maneuvers
  • Peripheral motor/sensory defects
  • Clumsiness
  • Hyporeflexia or hyperreflexia
  • Respiratory irregularities and central apneas
  • Lower cranial nerve dysfunction 2

Early diagnosis and management are essential as surgical intervention can halt disease progression and improve clinical outcomes, particularly when performed before the establishment of gross neurological deficits 3.