Pediatric syringomyelia

Author(s): Meg A. Krilov, MD, Jennifer Gomez, MD

Originally published:09/20/2014

Last updated:09/20/2014



Syringomyelia is defined as an abnormal gliotic-lined fluid-filled cavity that lies within the parenchyma of the spinal cord. The cavity, also known as a syrinx, can span 1 or more spinal levels or even the entire length of the spinal cord.

Syringomyelia can be defined as either congenital or acquired. Congenital is believed to be the result of an incomplete closure of the neural tube resulting in an inner clustering of glial tissue precursors and an outer clustering of neuroblastic cells. Acquired syringomyelia is believed to be caused by disturbance in cerebrospinal fluid (CSF) circulation.

In the pediatric population, syringomyelia usually occurs in the setting of congenital abnormalities. As a result, these children may have ongoing complex medical and rehabilitation needs that often require a multidisciplinary approach to health care.


Etiologies include the following:

  • Congenital: spinal cord malformations
    • Chiari I malformation
    • Associated with tethered cord, either congenital (eg, distal cord malformation) or acquired (eg, postmyelomeningocele repair)
    • Associated with spina bifida and ventriculoperitoneal shunt malfunction or Chiari II malformation
  • Inflammatory
    • Spinal arachnoiditis
    • Spinal meningitis
  • Traumatic: postspinal cord injury
  • Neoplastic: spinal cord tumor
  • Idiopathic and familial cases have also been described1

Epidemiology including risk factors and primary prevention

Syringomyelia occurs in 8.4 per 100,000 individuals in the United States.2Men and women are equally affected.3Morbidity/mortality and assessment of treatment results are difficult because of rarity, variable presentation, and limited follow-up with small numbers in most studies; they may be lower in modern studies, given neurosurgical intervention, better imaging techniques, and treatment of complications.


Despite knowledge of the existence of syringomyelia in the pediatric population since 1688, pathophysiology is not completely understood.4In the 1950s, Gardener hypothesized that anatomic abnormalities in the hindbrain cause blockage at the craniocervical junction and/or cisterna magna; therefore, arterial systolic pulsations generated by the choroid plexus transmit via CSF from the fourth ventricle into the central canal, leading to its dilation.5Recently, other theories of pathogenesis have emerged. Heiss et al6proposed that in primary spinal syringomyelia, blockage in the subarachnoid space propagates CSF pressure waves into the spinal cord, creating the syrinx. Another theory is that increased pulse pressure from within the spinal cord leads to syrinx creation. Greitz7proposed that this creates cord distention and accumulation of extracellular fluid within resultant cavitation.8Precise etiology for the acquired form remains unclear.8

Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)

Syringomyelia often remains stable with nonoperative treatment. In one study of 48 patients with 23.8-month follow-up, symptoms improved in 34%, and 57% remained stable. Clinical symptoms did not consistently correlate with changes in syrinx size. Size decreased in 25% of patients without intervention. Data suggest that the natural history of idiopathic syrinx is benign; however, further studies are needed. In idiopathic cases, patients often have no symptoms attributable to the syrinx, and only about 9% have progression.9

When syringomyelia presents symptomatically, progressive neurologic deterioration may appear, but it may take years from onset to diagnosis. Presymptomatic diagnosis can be made by magnetic resonance imaging (MRI). Syringomyelia involving the cervical spinal cord usually progresses slowly.

With extension of the syrinx, progression of clinical features may include the following:

  • Dissociated sensory loss because of injury to spinothalamic fibers, which mediate pain and temperature, with preservation of light touch, vibration, and proprioception. This can occur in either or both arms or across the upper torso in a shawl-like distribution.
  • Enlargement involving the posterior column causes lower extremity loss of position and vibration sense.
  • Dysesthesias, defined as severe deep aching pain involving neck and shoulders, sometimes following a radicular distribution in the upper extremities and trunk.
  • Motor loss with extension to anterior horns with diffuse muscle atrophy beginning in the hands progressing proximally to the forearm and shoulder girdle.
  • Impaired bowel, bladder, and sexual dysfunction as a late manifestation.
  • Horner syndrome, reflecting damage to sympathetic fibers in the intermediary cell columns.
  • Additional symptoms reflecting extension to the medulla (syringobulbia) include dysphagia, nystagmus, pharyngeal and palatal weakness, tongue atrophy, and sensory loss in the trigeminal nerve distribution.
  • Lumbar syringomyelia can cause leg muscle atrophy with dissociated sensory loss in lumbosacral dermatomes, with decreased or absent reflexes.

Specific secondary or associated conditions and complications

  • Scoliosis can be noted in children; it is seen in 25% to 85% of cases associated with Chiari I malformation.10
  • Younger age, atypical curve, rapid curve progression, and back pain associated with scoliosis should alert the clinician to the possibility of syringomyelia.11
  • Painless ulcers of the hands caused by decreased peripheral sensation.
  • Pain complaints more common in adults than younger children.
  • Neurogenic arthropathies of shoulder, elbow, and wrist (Charcot joints); painful enlargement of the shoulder because of humeral destruction.



Symptoms often progress slowly. Presentation depends primarily on the lesion location within the neuraxis. Symptoms are often aggravated by postural changes or Valsalva maneuver. Inquire about headaches; back pain; clumsiness; gait changes; inner ear dysfunction; altered facial or extremity sensation; bowel, bladder, or sexual function in adolescents; vision changes; dysarthria; and dysphagia and upper extremity joint pain or swelling because the most common cause of upper extremity Charcot joint is syringomyelia. Motor impairments, paresthesias, and dysesthesias may not necessarily follow expected anatomic patterns based on syrinx location and may be unilateral. Previous and family history regarding brain or spinal cord malformations is essential.

Physical examination

Detailed neurologic examination is required.

Findings can be dependent on spinal cord level.

  • Brainstem lesions
    • Cranial nerve dysfunction
    • Cerebellar signs: balance and coordination dysfunction
  • Cervical lesions
    • Upper extremity
      • Hyporeflexia
    • Lower extremity
      • Hyperreflexia
      • Spasticity with paraparesis
      • Positive Babinski reflexes
    • Horner syndrome or other evidence of dysautonomia
  • Lumbar lesions
    • Lower extremity hyporeflexia and paresis

The following should be documented because any changes may indicate progression of syrinx:

  • Spasticity (using the Ashworth Scale)
  • Deep tendon reflexes
  • Sensory level

Functional assessment

Patients must be evaluated for development of the following:

  • Gross motor skills
    • Bed mobility
    • Transfers
    • Ambulation with/without assistive devices
    • Static/dynamic balance
    • Active/passive range of motion
  • Fine motor skills
  • Eye-hand coordination
  • Activities of daily living status
  • Speech/language and other oral skills
    • Indicators of dysphagia (cough, hypoxia, dysphonia; may require additional studies)
    • Nutritional status
  • Cognitive skills
    • Executive functioning, at school and home
    • Short- and long-term memory
    • Concentration/focus
    • Safety awareness, judgment

Laboratory studies



Although syringomyelia is diagnosed via thorough history and physical examination, contrast-enhanced MRI provides confirmation. Contrast-enhanced images help to differentiate tumor and inflammatory causes. Before the discovery of MRI, computed tomography (CT) myelogram was used and may still be considered if MRI is unavailable or unsafe. Detailed spine imaging with radiograph or CT for coexisting scoliosis is useful, especially with Chiari malformation.

Supplemental assessment tools

  • Swallowing videofluoroscopy, fiberoptic endoscopic evaluation of swallowing, or other studies for dysphagia; laryngoscopy for dysphonia and vocal cord dysfunction.12
  • Electrodiagnosis for decreased hypothenar muscle action potentials or abnormal tibial nerve somatosensory evoked potentials related to impaired proprioception in the lower extremities.13

Early predictions of outcomes

Successful surgery for Chiari I malformation depends on early detection, which is facilitated by MRI. Studies show shorter duration of symptoms before decompression favorably influences clinical outcome.14Syrinx shape also influences pain and symptoms; with deviated or dorsal horn involvement, recovery is slower than with enlarged or central syrinx.15Children with idiopathic syrinx remained asymptomatic, stable, or improved in 91% of cases without surgical intervention,9suggesting its natural history is benign. Orthopedic and neurologic studies reviewing pain, neurologic symptoms, and rate of scoliosis progression found no correlation between location or size of syrinx and magnitude of major curve or severity of neurologic deficit.10


Inquire about home environment particularly regarding stairs, width of corridors/doors, and accessibility for durable medical equipment if there is paralysis or gait dysfunction. Barrier-free school environment should also be assessed.

Social role and social support system

Providers need comprehensive understanding of the living situation, including the number of primary caretakers and their roles in daily management of the patient’s functional and medical needs. Direct questions must be asked of the caretaker to ensure they can meet the patient’s needs (eg, who will provide bladder, bowel, and skin care management).


Available or current treatment guidelines

No current treatment guidelines are available.

At different disease stages

Asymptomatic patients need only regular monitoring with MRI and nonoperative management. With Chiari malformation and neurologic symptoms, expanding syrinx, or progressive scoliosis, treatment is neurosurgical. Patients who begin to decline in function at any stage need emergent neurosurgical referral. Suboccipital craniectomy and upper cervical laminectomy are done to decompress the foramen magnum and an outlet made for the fourth ventricle if necessary. Alternatives for more distal lesions include syringoperitoneal shunts and/or duraplasty to improve flow around a blocked area. Syrinx with intramedullary tumor may require radiation therapy if complete removal is impossible.16

Postoperative complications include the following:

  • Meningitis
  • Deep venous thrombosis
  • Pneumonia
  • Urinary tract infection

Rehabilitation assessment and intervention include the following:

  • Physical and occupational therapy
  • Nutrition
  • Speech and language therapy, particularly if there are concerns for deficits in brainstem function

Short- and long-term goals include the following:

  • Injury prevention
  • Continence
  • Contracture prevention
  • Strengthening and conditioning
  • Balance: static/dynamic
  • Transfers
  • Ambulation
  • Fine motor skills
  • Activities of daily living with/without assistive devices
  • Swallowing, phonation, and respiration
  • Verbal and written communication
  • Family eduction/training

Pain is treated with the following multiple agents:

  • Nonsteroidal anti-inflammatory drugs
  • Muscle relaxants
  • Topical agents
  • Anticonvulsants
  • Narcotics

Early developmental and neuropsychologic assessment and periodic reevaluation are needed to ascertain ability to make decisions regarding care; a legal guardian should be appointed if capacity as a legal adult is lacking.

Coordination of care

Care of this complex condition requires coordination with the following:

  • Primary physician
  • Neurosurgeon
  • Orthopedic surgeon
  • Pain management specialist
  • Otolaryngologist
  • Therapists
  • Psychiatrist/psychologist
  • Social worker/case manager
  • Third-party payers

Parents require a supportive team approach and development of a support network including the following:

  • Family
  • Social workers
  • Clergy
  • Peers
  • Respite care

Parents must learn how to advocate effectively for their child while promoting independence and must understand all issues involved in their child’s diagnosis and be involved in all treatment decisions. When able, the child should be involved in their own personal care.

Patient & family education

Families must be aware of symptoms to monitor and bring to medical attention, which could indicate progression and the need for intervention. Education and training in skin protection and bowel/bladder care are essential. If primary caretakers are unable to provide adequate support, referral to social services is required.

External resources include the following:

  • Chiari and Syringomyelia Foundation
  • American Syringomyelia and Chiari Alliance Project

Emerging/unique Interventions

There are no specific syringomyelia outcome measures. Functional scales (eg, WeeFIM) that address mobility, self-care, and cognition can be used for children ages 3 to 8 years. There is presently no valid, specific, reliable outcome scale for syringomyelia.

Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills

Syringomyelia is a life-long disease requiring complex management over the life span.Vigilant monitoring of patients with history of spinal cord injury is necessary; declines in motor function mandate evaluationfor the presence of syrinx or spinal instability.


Cutting edge concepts and practice

Dynamic contrast-enhanced MRI to analyze CSF flow dynamics within the syrinx.

Other factors currently being researched in development of syringomyelia include the following:

  • Prevention of birth defects causing development of hindbrain malformations
  • Genetics of Chiari I malformation
  • Refinements of surgical techniques


Gaps in the evidence-based knowledge

Haroun et al17favors surgical intervention for cranial nerve dysfunction, motor/sensory loss, and scoliosis associated with syringomyelia in a study of 1998 patients, but consensus on preferred operative procedure was not reached. Consideration may be given to timing of neurosurgical intervention before scoliosis surgery.


1. Busis NA, Hochberg FH. Familial syringomyelia.J Neurol Neurosurg Psychiatry. 1985;48(9):936-938.

2. Al-shatoury HA. Syringomyelia. eMedicine. Chief Ed. Selim R Benbadis 10 April 2012.

3. Ropper AH, Samuels MA, eds.Adams and Victor’s Principals of Neurology. 9th ed. New York (NY): McGraw Hill; 2009.

4. Bosmia AN, Tubbs RI, Clapp DC, Batzdorf U, Loukas M, Tubbs RS. Johann Conrad Brunner (1653-1727) and the first description of syringomyelia.Childs Nerv Syst. 2014;30(2):193-196.

5. Gower DJ, Pollay M, Leech R. Pediatric syringomyelia.J Child Neurol. 1994;9(1):14-21.

6. Heiss JD, Snyder K, Peterson MM, et al. Pathophysiology of primary spinal syringomyelia.J Neurosurg Spine. 2012;17(5):367-380.

7. Greitz D. Unraveling the riddle of syringomyelia.Neurosurg Rev. 2006;29(4):251-263; discussion 264.

8. Roy AK, Slimack NP, Ganju A. Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management.Neurosurg Focus. 2011;31(6):E15.

9. Magge SN, Smythe MD, Governale LS, et al. Idiopathic syrinx in the pediatric population: a combined center experience.J Neurosurg Pediatr. 2011;7(1):30-36.

10. Yeon JS, Lee CK, Park KW, et al. Scoliosis associated with syringomyelia: analysis of MRI and curve progression.Eur Spine J.2007;16(10):1629-1635.

11. Ono A, Ueyama K, Okada A, Echigoya N, Yokoyama T, Harata S. Adult scoliosis in syringomyelia associated with Chiari I malformation.Spine(Phila Pa 1976). 2002;27(2):E23-E28.

12. Tubbs RS, Bailey M, Barrow RC, et al. Morphometric analysis of craniocervical juncture in children with Chiari I malformation and concomitant syringobulbia.Childs Nerv Syst. 2009;25(6):689-692.

13. Veilleux M, Stevens JC, Syringomyelia: electrophysiological aspects.Muscle Nerve. 1987;10(5):449-458.

14. Dyste GN, Menezes AH, Van Gilder JC. Symptomatic Chiari malformations. An analysis of presentation, management and long-term outcome.J Neurosurg. 1989;71(2):159-168.

15. Nakamura M, Chiba K, Nishizawa T. Retrospective study of surgery-related outcomes in patients with syringomyelia associated with Chiari I malformation: clinical significance of changes in the size and localization of syrinx on pin relief.J Neurosurg. 2004;100(3 Suppl Spine):241-244.

16. Aminoff MJ, Kerchner GA. Nervous system disorders. In: Papadakis MA, McPhee SJ, Rabow MW, eds. Current Medical Diagnosis and Treatment. New York (NY): McGraw Hill; 2014. Chapter 24.

17. Haroun RI, Guarnieri M, Meadow JJ, Kraut M, Carson BS. Current opinions for the treatment of syringomyelia and chiari malformations: survey of the Pediatric Section of the American Association of Neurological Surgeons.Pediatr Neurosurg. 2000;33(6):311-317.


Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology. 5th ed. Philadelphia (PA): Saunders; 2012.

Author Disclosure

Meg A. Krilov, MD
Nothing to Disclose

Jennifer Gomez, MD
Nothing to Disclose

Related Articles