Tethered cord syndrome

Top Contributors  Salvatore Trimboli Marco De Palma Fadi Salama Steve Shelmov Cliff Taylor

Introduction

Tethered Cord Syndrome (TCS) is a broad term that encompasses both congenital (primary) and acquired (secondary) pathologies that anchor, elongate and tension the spinal cord[1]. This prevents the spinal cord from freely moving, which then increases stress with flexion and extension movements of the spine[2]. Abnormalities are due to problems with secondary neurulation and are closely related to spina bifida occulta, tumors, lipomas and infections[3]. Depending on the age and underlying cause of the tethered cord, various signs and symptoms can manifest, including; lower extremity and saddle pain, motor and sensory deficits, urinary dysfunction, orthopaedic anomalies and cutaneous signs[2]. Generally, surgical interventions are primarily used for the management of TCS[4].


[5]

Etiology 

As previously mentioned, TCS is divided into 2 classifications, which are primary (congenital) and secondary (acquired).

Primary Tethered Cord Syndrome:

When focusing on primary TCS, the simplest mechanism by which the caudal spinal cord succumbs to tethering is due to a thickened filum terminale. Normally, the filum terminale is a viscoelastic structure that facilitates the ascension of the conus medullaris during neural development[3]. During secondary neurulation, improper canalization of the neural tube allows for precursor cells (most commonly preadipose cells) to proliferate and differentiate, leading to a thickened ‘fatty’ filum terminale[3] [6]. This thickening prevents the ascension of the conus medullaris, resulting in an abnormally elongated spinal cord. An abnormally thickened filum terminale was classified by Hoffman and colleagues in the 1970’s as being greater than 2 millimetres in diameter[7].

Lipomas, or adipose cell aggregations, around the caudal aspect of the spinal cord have also been linked to TCS. Lipomas associated with TCS are normally subpial in location, whereas subdural lipomas are a lot less associated with this condition[3]. The presence of a lipoma can affect both the filum terminale as well as the conus medullaris, essentially leading to an elongated spinal cord and if large enough, may elicit spinal compression as well[3].

Spinal Dysraphisms, which are any disorders that result in malformations of the spinal cord, have also been linked to TCS. Spina bifida occulta, split cord malformations such as diastematomyelia and diplomyelia, and neurenteric cysts, have shown to be connected to TCS through imprper secondary neurulation[3].

Secondary Tethered Cord Syndrome:

Secondary or acquired tethered cord syndrome can be due to a variety of sources that elicit the fibrotic thickening of the filum terminale, such as: infection, fibrotic scarring and the presence of a tumor[3] [2]. Another potential source of secondary TCS could be due to fibrotic thickening following spinal surgery, however, it is said that these individuals most likely possessed abnormal tethering prior to the surgery[1].

Pathophysiology

The aforementioned mechanisms exert their effect on the spinal cord in a few different manners. Yamada et al. demonstrated that after constant or intermittent traction to the spinal cord, oxidative metabolism was decreased overall[8]. It was proposed that this was likely due to the overall ischemic effect of spinal traction, which subsequently leads to neural cells becoming hypoxic[9] [8] [10]. Other proposed mechanisms suggest that the disruption of ion channels is also associated with neuronal membrane traction, ultimately contributing to the decreased capacity for oxidative metabolism[8] [1]. Collectively, these mechanisms directly elicit neuronal dysfunction through progressive damage on the caudal spinal cord and can worsen overtime. The outcomes of these neural dysfunctions are discussed in the clinical presenation.  

Clinical Presentation

When comparing adult and pediatric populations with tethered cord syndrome, it was found that pediatric populations have a higher proportion of sphincteric problems whereas adult populations more commonly exhibit significant pain[11][4].

Evaluation of literature finds clinical symptoms to be:

Pain[4]
  • Perineogluteal region radiating into lower limbs
  • Aggravated by prolonged sitting and forward bending
Motor[4]
  • Weakness (does not follow myotomal pattern)
  • Hyperreflexia
  • Spasticity (mostly distal lower limb)
Sensory[4]
  • Saddle area
  • Distal portion of lower limb
  • Lhermitte's Sign (electric shock sensation through spine, legs, arms, trunk)[12]
Urological[4]
  • Detrusor hyperreflexia[13]
  • Urinary urgency
  • Stress incontinence
  • Insufficient stream
  • Enuresis
Orthopaedic[3]
  • Club foot
  • Trophic ulcerations of foot
  • Lower leg atrophy
  • Scoliosis
  • Gait abnormalities
Cutaneous[3]
  • Cutaneous lipoma
  • Tail
  • Dermal sinus
  • Cutaneous hemangionoma
  • Aberrant dimple
  • Gluteal crease deviation


Diagnostic Procedures

Magnetic Resonance Imaging (MRI) is currently the best available imaging technique to study TCS[4]. Low conus medullaris (below L2-L3), thickened filum (>2mm) and fat in the filum are characteristic of this condition[11][3]. However, it has been found more recently that TCS symptoms can be observed in patients with a normal L1/L2 conus position[14].

Electromyography (EMG) may be used to assess nerve function, particularly in regards to urinary dysfunction[1][3].

X-ray's can be used to identify bony anomalies consistent with spina bifida[3].

Ultrasound can be used in early infancy to identify the position of conus, the existence of lipomas and movement of the spinal cord[3][15].

Physiotherapy Examination can identify signs and symptoms as previously highlighted in the clinical presentation section. This will allow for better insight on the proper diagnosis of TCS.

Epidemiology

Tethered cord syndrome is normally diagnosed only after the onset of signs and symptoms or found incidentally when looking for unrelated problems[16]. Due to this, the true incidence and prevalence in the general population is not known[16]. However, onset of symptoms seems to appear more commonly in childhood than in adulthood[17].

Management / Treatment

Surgical Intervention 

In most cases, TCS requires surgical intervention by a process called untethering [3][18][11]. The goal in this case is to try to restore mobility to the conus medullaris and filum terminale in the caudal spinal column[4]. Results of surgery are strongly correlated to the severity and chronicity of this disorder. Therefore, surgery at a pediatric stage is usually advocated in order for successful management[3][4]. Studies have shown that patients who have delayed treatment are more likely to present irreversible urological and neurological deficits. Furthermore, 47% of patients who refused surgery experienced worsening of symptoms. Many authors agree that this would likely have been prevented with earlier treatment [11].

That being said, patients who have TCS but remain symptom-free are not recommended to undergo surgery[3]. A study was conducted where a surgical intervention was suggested to treat infants who did not show any signs or symptoms. The goal was to prevent deficits in the future. Following the study, there was no evidence to conclude that surgery was necessary in infants who were asymptomatic. Therefore, it is recommended that surgery be avoided if a patient does not experience any deficits[11].

Evidence has shown that pain reduction and neurological improvement was seen in 81-89% of adult patients who underwent surgery[11]. In addition, this intervention has been successful in improving urinary tract dysfunction among patients[3][18]. A study was conducted where individuals who previously complained of urinary tract dysfunctions before surgery showed a reduction in symptoms in 72% of patients within three months of surgery[18]. Therefore, surgical intervention is recommended for those who experience symptoms from this disorder due to the many post-operative benefits. 

Physical Therapy 

Currently, there is a lack of evidence on physical therapy associated with this disorder seeing as the primary mode of treatment is surgical intervention. That being said, below is a list of important ideas that need to be considered:

• As previously mentioned, one of the causes of TCS are spinal lipomas. In this case, symptoms may aggravate in patients who experience rapid weight gain as the lipoma may increase in size. Therefore, if neurological deficits in patients are not severe, weight loss may be a beneficial treatment to be considered before any surgical intervention[3]. This could be achieved through proper dieting and exercise that does not require excessive tension and bending in the spinal cord. 

• It has been noted that individuals with less severe cases of tethered cord syndrome may remain symptom free in childhood, but neurological deficits may occur later in life due to repeated spine flexion, extension, or trauma that may aggravate symptoms[2][4]. Therefore, it is imperative that patients receive proper education on posture, gait, and functional movements when participating in recreational and daily activities in order to limit progressive tension on the spinal cord.

Differential Diagnosis

There are many spinal disorders that share similar signs and symptoms as tethered cord syndrome (especially in adult onset TCS). These include any conditions that result in back and leg pain, motor and sensory deficits or incontinence and may include: disc disease, spondylolisthesis, spine diseases, spinal cord disorders, peripheral nerve disease and herniated discs[2]. Yamada and Lonser[2] provide some key characteristics of TCS to help differentiate between some spinal disorders and TCS:

• Motor and Sensory deficits will not follow a normal myotomal/dermatomal pattern.

• Coughing and sneezing will not aggravate the pain.

• Lying supine will not make the pain better.

• Straight leg raising will not aggravate the pain.

Other conditions that could present with similar signs and symptoms include[1]:

Spinal cord tumors: depending on location of the tumor, there could be pain, motor and sensory deficits and in rare cases bladder control could be affected[19].

Peripheral Neuropathy: Damage to the peripheral nerves can lead to pain, altered sensation and weakness[20].

Myelopathy: This term describes any neurologic deficit related to the spinal cord and includes a wide variety of spinal conditions including: spinal cord compression, spondylosis and damage due to inflammation or lack of blood supply[21].

References

  1. 1.0 1.1 1.2 1.3 1.4 Tethered Cord Syndrome. [Internet]. NORD (National Organization for Rare Disorders). 2017 [cited 7 May 2017]. Available from: https://rarediseases.org/rare-diseases/tethered-cord-syndrome/
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Yamada S, Lonser R. Adult Tethered Cord Syndrome. Journal of Spinal Disorders. 2000;13(4):319-323. PMID:10941891
  3. 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 3.13 3.14 3.15 3.16 3.17 Agarwalla P, Dunn I, Scott R, Smith E. Tethered Cord Syndrome. Neurosurgery Clinics of North America. 2007;18(3):531-547. DOI: 10.1016/j.nec.2007.04.001
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 Aufschnaiter K, Fellner F, Wurm G. Surgery in adult onset tethered cord syndrome (ATCS): review of literature on occasion of an exceptional case. Neurosurgical Review. 2008;31(4):371-384. DOI: 10.1007/s10143-008-0140-x
  5. Abiasaph Abiathar. Tethered Cord Syndrome Explained Medical Course. Available from: https://www.youtube.com/watch?v=IZb9YY7h_bU [last accessed 8/5/17]
  6. Payne J. Tethered spinal cord syndrome. BMJ. 2007;335(7609):42-43. doi:10.1136/bmj.39216.436713.BE
  7. Hoffman HJ, Hendrick EB, Humphreys RP. The Tethered Spinal Cord: Its Protean Manifestations, Diagnosis and Surgical Correction. Childs Brain. 1976;2(3):145-155. PMID: 786565
  8. 8.0 8.1 8.2 Yamada S, Won D, Pezeshkpour G, Yamada B, Yamada S, Siddiqi J et al. Pathophysiology of tethered cord syndrome and similar complex disorders. Neurosurgical Focus. 2007;23(2):1-10. DOI: 10.3171/FOC-07/08/E6
  9. Filippidis A, Kalani M, Theodore N, Rekate H. Spinal cord traction, vascular compromise, hypoxia, and metabolic derangements in the pathophysiology of tethered cord syndrome. Neurosurgical Focus. 2010;29(1):E9. doi: 10.3171/2010.3.FOCUS1085
  10. Schneider S, Rosenthal A, Greenberg B, Danto J. A Preliminary Report on the Use of Laser-Doppler Flowmetry during Tethered Spinal Cord Release. Neurosurgery. 1993;32(2):214-218. PMID: 8437659
  11. 11.0 11.1 11.2 11.3 11.4 11.5 Klekamp J. Tethered cord syndrome in adults. Journal of Neurosurgery: Spine. 2011;15(3):258-270. DOI: 10.3171/2011.4.SPINE10504
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  13. Lew S, Kothbauer K. Tethered Cord Syndrome: An Updated Review. Pediatric Neurosurgery. 2007;43(3):236-248. DOI:10.1159/000098836
  14. Warder D, Oakes W. Tethered Cord Syndrome and the Conus in a Normal Position. Neurosurgery. 1993;33(3):374-378. PMID:8413866
  15. Bode H, Sauer M, Straßburg H, Gilsbach H. Das Tethered-Cord-Syndrom. Klinische Pädiatrie. 1985;197(05):409-414. PMID:3906257
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  17. Pang D, Wilberger J. Tethered cord syndrome in adults. Journal of Neurosurgery. 1982;57(1):32-47. DOI: 10.3171/jns.1982.57.1.0032
  18. 18.0 18.1 18.2 Fukui, Junnosuke, Kuniyoshi Ohotsuka, and Yoshimi Asagai. "Improved Symptoms And Lifestyle More Than 20 Years After Untethering Surgery For Primary Tethered Cord Syndrome" Neurourology and Urodynamics(2011): 30:1333-1337. DOI: 10.1002/nau.21176
  19. Balériaux D. Spinal cord tumors. European Radiology. 1999;9(7):1252-1258. DOI: 10.1007/s003300050831
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  21. Seidenwurm D. Myelopathy. American journal of neuroradiology. 2008 [cited 7 May 2017];29(5):1032-1034. PMID: 18477657