Syringomyelia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Tarek Nafee, M.D. [2] Aysha Anwar, M.B.B.S[3]

Overview

Syringomyelia is a generic term referring to a disorder in which a cyst or tubular cavity forms within the spinal cord. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage may result in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Each patient experiences a different combination of symptoms. These symptoms typically vary depending on the extent and, often more critically, to the location of the syrinx within the spinal cord.

Historical Perspective

Classification

Syringomyelia may be classified in various ways according to the anatomical features of the syrinx, or according to the underlying etiology of the disease.[1]

By Anatomy

Syringomyelia may be classified according to the anatomical description of the lesion (syrinx) as follows:[1]

  • Communicating vs. Non-communicating:
    • A communicating syringomyelia is one where the syrinx is continuous from the spinal cord, across the foramen magnum and the dilatation is continuous with the fourth ventricle - This condition
    • A non-communicating syringomyelia is characterized by absence of the continuity across the foramen magnum. It may present as isolated syringomyelia, or as isolated syringobulbia only affecting the brainstem with cranial nerve palsies.
  • Intracannalicular vs. Extracannalicular:
    • Intracannalicular synringomyelia originates within the central canal of the spinal cord.
    • Extracannalicular syringomyelia originates within the spinal cord parenchyma.

By Etiology

Syringomyelia may be classified according to the underlying etiology or associated condition as follows:[2][3][4]

  • Congenital Malformations
  • Post-infectious
  • Post-traumatic
  • Post-inflammatory
  • Neoplastic

Pathophysiology

Pathogenesis

The exact pathogenesis of syringomyelia remains unknown. Several theories have been postulated about the development of a syrinx in the spinal cord. The underlying mechanisms of the disease involves disruption of CNS flow, subsequent formation of a syrinx, and enlargement of the lesion to impinge on the surrounding nerve fibers resulting in a symptomatic presentation.

1. Disruption of CSF Flow
Disruption of CSF flow may occur secondary to any of the following conditions:
  • Congenital craniocervical abnormalities obstructing CSF flow from the ventricles to the central canal (e.g., arnold chiari malformation, scoliosis)
  • Tumor or arachnoid cyst exhibiting a mass effect on the spinal cord
  • Sequelae of spinal cord trauma results in abnormal obstruction of the central canal
  • Sequelae of meningitis resulting in inflammation of the spinal cord meninges
  • Sequelae of inflammatory conditions such as sarcoidosis, multiple sclerosis, seronegative spondyloarthropathies)
2. Syrinx formation
The pathogenesis of a syrinx is largely unknown. There are five primary theories of intra and extra cannilicular
  • Gardner's hydrodynamic theory: Blockage of the foramen of Magendie at the obex results in a pulsatile "water-hammer" effect of the mass lesion on the spinal cord CSF. This pressure differential results in extravasation of fluid into the perivascular and extracellular spaces.[5][6][7]
  • William's theory: Increased intracranial pressure combined with decreased subarachnoid spinal pressure results in a "vaccuum-like" effect which further herniates the cerebellar tonsils through the foramen magnum. This results in sloshing of the subarachnoid CSF and causes extravasation of the CSF into the spinal cord parenchyma, thus creating a syrinx.[5][8]
  • Ball & Dyan theory: With the CSF pressure difference created by the lesion, fluid moves, collects, and expands within Robin Virchow's perivascular space.[9]
  • Oldfield's theory: The pulsatile waves of the CSF which occur during systole result in increased ICP. This increased pressure herniates the cerebellum to obstruct the subarachnoid space at the level of the foramen magnum. This pulsatile fluid wave against the surface of the spinal cord results in extravasation of fluid into the parenchyma and creates a syrinx.[10]
  • Cisterna Magna theory: This theory claims that the fluid storage capacity of the cisterna magna is the primary shock absorber of the CNS that allows the spinal cord parenchyma to remain protected from increases in intracranial pressure. Mass effect of any lesion "stiffens" the cisterna magna and results in decreased compliance of the space and increased transferrance of pressure to the spinal cord. This results in extravasation of fluid to the spinal cord parenchyma.[5]
3. Development of symptoms
Once the syrinx enlarges enough to impinge on the surrounding spinal cord segments, symptoms related to the affected nerve fibers will develop due to the mass effect of the syrinx itself.

Genetics

Gross Pathology

Microscopic Pathology

Causes

The most common cause of syringomyelia is Chiari I malformation[11]. Other causes of syringomyelia may include:

Common Causes

  • Other congenital abnormalities (e.g., scoliosis, Chiari I and II malformations)[12][11][13][14]
  • Traumatic spinal cord injury[15]

Less Common Causes

  • Infections (e.g., meningitis/arachnoiditis)[16][17]
  • Mass lesions or neoplasia (e.g., Ependymoma, hemangioblastoma, meningioma, or arachnoid cyst)[18][19][20][21]
  • Inflammatory conditions (e.g. multiple sclerosis, transverse myelitis, amylotrophic lateral sclerosis, sarcoidosis, other myelitis)[22][23][24][25][26]
  • Idiopathic [27][28]

Differentiating Syringomyelia from other diseases

Risk Factors

Risk factors for the development of syringomyelia vary according to the underlying etiology:

  • Congenital Malformations
  • Post-infectious
  • Post-traumatic
  • Post-inflammatory
  • Neoplastic

Screening

There is no recommended screening for syringomyelia.

Epidemiology and Demographics

Incidence

Syringomyelia has a prevalence estimated at 8.4 cases per 100,000 people,[29] or about 21,000 Americans, with symptoms usually beginning in young adulthood.

Prevalence

Age

Sex

Natural History, Complications, and Prognosis

Natural History

The natural course of disease in syringomyelia is unpredictable. Without treatment, syringomyelia may progress to develop the worsening of neurological deficit in cases of obstructive lesions. However, the disease has a slower progression in cases of mild disease.[30][31][32]

Complications

Complications that can develop as a result of syringomyelia are:[28][33][34][35][36][37][38][39][40][41][42]

Prognosis

The prognosis of syringomyelia varies depending on factors such as cause, extent of neurological damage, presence of complications, and general health status of patient before undergoing surgical treatment.[43][44][45]

  • Patients with mild neurological deficit may respond better to surgical management.
  • Early management of syringomyelia in cases of trauma is associated with decreased morbidity.
  • 80% of patients respond to surgical treatment in terms of hault to progression of symptoms and mild relief.
  • 20% of patients gets worse despite treatment in cases of advanced disease.
  • Recurrence is not uncommon in syringomyelia.

History and Symptoms

Specific areas of focus when obtaining the history such as onset, duration and progression of symptoms; history of trauma; associated conditions like multiple sclerosis, transverse myelitis, amylotrophic lateral sclerosis, sarcoidosis, congenital malformation, infection such as meningitis or neoplasia(ependymoma, meningioma, hemangioblastoma) may help diagnosing syringomyelia. Symptoms depends on the anatomical site of spinal cord involved.[46][47][48][49][50][51]

Anatomical site Early symptoms Late symptoms
Cervical
  • Inability to feel hot or cold
  • Decreased ability to feel pain sensation
  • Increased or decreased sweating
  • Muscle weakness ++
  • Shoulder joint pain, swelling and loss of function
  • Muscle paralysis
  • Loss of all sensations in hands, forearm, arm and upper back
Thoracic
  • Decreased to absent temperature sensation in trunk region
  • Abnormal pain sensation
  • Muscle weakness
  • Abnormal sweating
  • Muscle paralysis
  • Loss of pain and temperature sensation
Lumbar
  • Lower limb muscle weakness
  • Decreased to absent temperature sensation
  • Abnormal pain sensation
  • Joint sweling, pain and redness (charcot joints)
  • Loss of vibration, position sense and two point discrimination(recurrent falls)
  • Failure to maintain balance
  • Absent pain and temperature sensation
  • Muscle paralysis
Sacral
  • Bladder or bladder dysfunction
  • Sexual dysfunction (erectile dysfunction)
  • Tingling and numbness in foot or anogenital region
  • Muscle weakness ++
  • Loss of penile erection
  • Loss of ankle plantar flexion(S1)
  • Urinary or fecal incontinence
  • Loss of temperature and pain sensation in foot and perineum

Physical Examination

Physical examination findings of syringomyelia may include the followig:[46][52][53][54][55][56][57]

Anatomical site Physical examination
Syringobulbia
  • Facial sensory loss (sensory nucleus of 5th nerve)
  • Absent gag reflex (9th and 10th nerve)
  • Hoarseness of voice (vocal cord paralysis)
  • Decreased muscle stregth of sternocleidomastoid and trapezius muscle (11th nerve)
  • Atrophy and weakness of tongue muscle (12th nerve)
  • Apnea (respiratory failure)
Cervical
  • Anhydrosis, miosis and ptosis (Horner's syndrome)
  • Loss of temperature and pain sensation in cervical dermatomes
  • Claw hand
  • Decreased muscle strength in hands, arms and shoulders
  • Decreased to absent deep tendon reflexes in upper limb
  • Muscle atrophy of hands, arms and shoulders
  • Tenderness, erythema, swelling and joint resorption (charcot joints)
Thoracic
  • Scoliosis
  • Decreased to absent pain and temperature sensation in thoracic dermatomes
  • Muscle atrophy ++
  • Absent superifcial abdominal reflexes
Lumbar
  • Lower limb spasticity
  • Hypereflexia or Areflexia
  • Babinski's sign ++
Sacral
  • Decreased to absent pain and temperature sensation in sacral dermatomes
  • Loss of rectal tone
  • Absent cremasteric reflex
  • Scoliosis

Imaging Findings

Imaging studies that may help diagnose syringomyelia, its cause and complications include:[58][59][60]

MRI

Spinal MRI may help to diagnose and follow up syringomyelia. It is characterized by the following findings:[58][61][62][63][64]

  • Presence of syrinx in the spinal cord, its extent, location and complications
  • Enlargement of central canal of spinal cord
  • Presence of syrinx in the brain stem (syringobulbia)
  • Presence of assocaited congenital anomalies such as chiari malformation, kippel feil syndrome, spina bifida, tethered cord syndrome
  • Presence of tumours such as ependymoma
  • May be used for follow up post surgery

CT

Syringomyelia may be diagnosed as an incidental finding on CT scan. However, delayed CT scan may have a diagnostic importance in early cases of syringomyelia without clinical manifestaions.[65][66] Metrizimed CT scan using non ionic contrast may be used to identify syrinx in postinflammatory conditions (postinfectious and posthemorrhagic arachnoiditis).[67][68] In addition, computed axial tomography (CT) scans of a patient's head may reveal the presence of tumors and other abnormalities such as hydrocephalus.

X ray

There are no X ray findings associated with syringomyelia.

Myelogram

Myelogram is rarely used to diagnose syringomyelia. It uses a contrast material combined with x ray or CT to image spinal cord in case of syringomyelia. However, CT metrimised myelography is more sensitive to diagnose syringomyelia as compared to conventional myelography.[68][69]

Other Diagnostic Studies

Electromyography

EMG findings of syringomyelia include increased excitability of spinal motor neurons. However, the findings are non specific and does not hold diagnostic importance in case of syringomyelia.[70][71]

lumbar puncture

Role of lumbar puncture in syringomyelia is controversial since it may result in herniation in cases of chiari malformation. However, it may be used by some clinicians as a diagnostic tool to look for CSF pressure and signs of inflammation based on individual patient assessment.[48]

Medical Therapy

Drugs have no curative value as a treatment for syringomyelia. The role of medical therapy in management of syringomyelia is for treatment of underlying conditions or management of associated symptoms.

Treatment of underlying Conditions

Radiation and chemotherapy may be utilized for management of an underlying spinal cord tumor. Antibiotics may be used to treat an underlying infection (meningitis or encephalitis)

Management of Symptoms

Analgesics may be used to control pain. Gaba inhibitors neurontin pregebalin may be used to control peripheral neuropathy. Drugs may be used for urinary or fecal incontinence or neurogenic bladder.

In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in patients of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many patients will be told to avoid activities that involve straining.

Surgery

Surgery is not always required for syringomyelia. Indications for surgical management of syringomyelia include the following:

  • Progressive neurological deteriotion and worsening of symptoms
  • Presence of tumour causing obstruction
  • Congenital malformation(chiari malformation)
  • Traumatic injury to spinal cord

Surgical options used to treat syringomyelia include:

Posterior fossa decompression

[72]

Laminectomy

[48]

Shunt formation

Ventriculoperitoneal shunt

  • Syrinxes with hydrocephalus
  • Chiari II malformation

Syringosubarachnoid shunt Syringoperitoneal shunt

Removal of obstruction

Surgical untethering and expansive duraplasty

Neuroendoscopic surgery

The first step after diagnosis is finding a neurosurgeon who is experienced in the treatment of syringomyelia. Surgery is the only viable treatment for syringomyelia, and a neurosurgeon is the only specialist qualified to provide a fully informed recommendation. Not all patients will advance to the stage where surgery is needed. Evaluation of the condition is often difficult because syringomyelia can remain stationary for long periods of time, and in some cases progress rapidly.

Surgery is not always recommended for syringomyelia patients. For many patients, the main treatment is analgesia. A typical treatment of syringomyelia involving severe chronic pain would involve two or more medications. One medication for "classical" back pain such as a weak or strong opioid (e.g. tramadol and Oxycontin respectively) combined with a medication to combat any neuropathic pain symptoms such as shooting and stabbing pains (e.g. Neurontin or Lyrica). In addition, paracetamol can be used to combat headaches. Such long term treatment of chronic pain should be monitored with blood tests to assess any adverse effects of the medication on the liver, with the dosages being then changed accordingly, depending on the outcome of such blood tests.

Surgery of the spinal cord has certain, characteristic risks associated with it and the benefits of a surgical procedure on the spine have to be weighed up against the possible complications associated with any procedure. Surgical treatment is aimed at correcting the condition that allowed the syrinx to form. It is vital to bear in mind that the drainage of a syrinx does not necessarily mean the elimination of the syrinx-related symptoms, but rather is aimed at stopping progression. In simple terms this means that a syrinx with the main symptom of pain, may not actually lead to any reduction (or only a part reduction) in the pain symptoms after the syrinx has been drained! In cases involving an Arnold-Chiari malformation, the main goal of surgery is to provide more space for the cerebellum at the base of the skull and upper cervical spine without entering the brain or spinal cord. This often results in flattening or disappearance of the primary syrinx or cavity, over time, as the normal flow of cerebrospinal fluid is restored. If a tumor is causing syringomyelia, removal of the tumor is the treatment of choice and almost always eliminates the syrinx.

Surgery results in stabilization or modest improvement in symptoms for most patients. Delay in treatment may result in irreversible spinal cord injury. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term.

In some patients it may also be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. This system is also known as a shunt. Shunts are used in both the communicating and noncommunicating forms of the disorder. First, the surgeon must locate the syrinx. Then, the shunt is placed into it with the other end draining cerebrospinal fluid (CSF) into a cavity, usually the abdomen. This type of shunt is called a ventriculoperitoneal shunt and is particularly useful in cases involving hydrocephalus. By draining syrinx fluid, a shunt can arrest the progression of symptoms and relieve pain, headache, and tightness. Without correction, symptoms generally continue.

The decision to use a shunt requires extensive discussion between doctor and patient, as this procedure carries with it greater risk of injury to the spinal cord, infection, blockage, or hemorrhage and may not necessarily work for all patients. Draining the syrinx more quickly does not produce better outcomes, but a shunt may be required if the fluid in the syrinx is otherwise unable to drain.

In the case of trauma-related syringomyelia, the surgeon operates at the level of the initial injury. The syrinx collapses at surgery but a tube or shunt is usually necessary to prevent re-expansion.

Since the natural history of syringomyelia is poorly understood, a conservative approach may be recommended. When surgery is not yet advised, patients should be carefully monitored by a neurologist or neurosurgeon. Periodic MRI's and physical evaluations should be scheduled at the recommendation of a qualified physician.

Prevention

Primary Prevention

There are no primary preventive measures associated with syringomyelia.

Secondary Prevention

  • Physiotherapy
  • Prompt Surgery

Research

The precise causes of syringomyelia are still unknown. Scientists at the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland, and at grantee institutions across the country continue to explore the mechanisms that lead to the formation of syrinxes in the spinal cord. For instance, Institute investigators have found that as the heart beats, the syrinx fluid is abruptly forced downward. They have also demonstrated the presence of a block to the free flow of cerebrospinal fluid that normally occurs in and out of the head during each heartbeat. Duke University is conducting research to see if syringomyelia might be genetic.[73]

Surgical techniques are also being refined by the neurosurgical research community. In one treatment approach currently being evaluated, neurosurgeons perform a decompressive procedure where the dura mater, a tough membrane covering the cerebellum and spinal cord, is enlarged with a graft. Like altering a suit of clothing, this procedure expands the area around the cerebellum and spinal cord, thus improving the flow of cerebrospinal fluid and eliminating the syrinx.

It is also important to understand the role of birth defects in the development of hindbrain malformations that can lead to syringomyelia. Learning when these defects occur during the development of the fetus can help us understand this and similar disorders, and may lead to preventive treatment that can stop the formation of many birth abnormalities. Dietary supplements of folic acid during pregnancy have already been found to reduce the number of cases of certain birth defects.

Diagnostic technology is another area for continued research. Already, MRI has enabled scientists to see conditions in the spine, including syringomyelia, even before symptoms appear. A new technology, known as dynamic MRI, allows investigators to view spinal fluid pulsating within the syrinx. CT scans allow physicians to see abnormalities in the brain, and other diagnostic tests have also improved greatly with the availability of new, non-toxic, contrast dyes. Patients can expect even better techniques to become available in the future from the research efforts of scientists today.

See also

References

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  28. ↑ 28.0 28.1 Porensky P, Muro K, Ganju A (2007). "Nontraumatic cervicothoracic syrinx as a cause of progressive neurologic dysfunction". J Spinal Cord Med. 30 (3): 276–81. PMC 2031960. PMID 17684895.
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  45. ↑ Sgouros S, Williams B (1995). "A critical appraisal of drainage in syringomyelia". J Neurosurg. 82 (1): 1–10. doi:10.3171/jns.1995.82.1.0001. PMID 7815110.
  46. ↑ 46.0 46.1 Koyanagi I, Iwasaki Y, Hida K, Houkin K (2005). "Clinical features and pathomechanisms of syringomyelia associated with spinal arachnoiditis". Surg Neurol. 63 (4): 350–5, discussion 355-6. doi:10.1016/j.surneu.2004.05.038. PMID 15808720.
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  51. ↑ Schurch B, Wichmann W, Rossier AB (1996). "Post-traumatic syringomyelia (cystic myelopathy): a prospective study of 449 patients with spinal cord injury". J Neurol Neurosurg Psychiatry. 60 (1): 61–7. PMC 486191. PMID 8558154.
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  57. ↑ Cardoso M, Keating RF (2009). "Neurosurgical management of spinal dysraphism and neurogenic scoliosis". Spine (Phila Pa 1976). 34 (17): 1775–82. doi:10.1097/BRS.0b013e3181b07914. PMID 19602995.
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  62. ↑ Tanghe HL (1995). "Magnetic resonance imaging (MRI) in syringomyelia". Acta Neurochir (Wien). 134 (1–2): 93–9. PMID 7668137.
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  72. ↑ Mueller D, Oro' JJ (2005). "Prospective analysis of self-perceived quality of life before and after posterior fossa decompression in 112 patients with Chiari malformation with or without syringomyelia". Neurosurg Focus. 18 (2): ECP2. PMID 15715455.
  73. ↑ "Information about a Genetic Research Study for Chiari Type I Malformation (CMI) with or without Syringomyelia."

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