Bertolotti's syndrome

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Bertolotti's syndrome
X-ray of Bertolotti's syndrome (pointed out).png
X-ray of Bertolotti's syndrome (in this case, right transverse mega-apophysis of L5 with pseudoarticulation with the sacral ala). Woman 67 years old.

Bertolotti's syndrome is a commonly missed cause of back pain which occurs due to lumbosacral transitional vertebrae (LSTV). It is a congenital condition but is not usually symptomatic until one's later twenties or early thirties. [1] However, there are a few cases of Bertolotti's that become symptomatic at a much earlier age.

Contents

It is named for Mario Bertolotti, an Italian physician who first described it in 1917. [2] [3]

Distinction between LSTV and Bertolotti's Syndrome

The presence of LSTV is an anatomical observation. Bertolotti's Syndrome, however, is a clinical diagnosis made only when this LSTV is definitively identified as the source of a patient's chronic low back pain and associated symptoms [4] .

This distinction is of paramount clinical importance because a significant portion of individuals with LSTV remain entirely asymptomatic throughout their lives. The challenge for clinicians, therefore, is not merely to identify the LSTV on an imaging study but to rigorously prove its causal relationship to the patient's pain, a process that often requires a combination of detailed imaging and diagnostic injections [5] . This diagnostic hurdle is a primary reason why the condition is frequently overlooked, leading to prolonged periods of patient suffering and ineffective treatments directed at other potential pain sources.

Presentation

A chronic, persistent low back pain along with buttock pain is the most important presentation. The main direct causes of pain in patients with Bertolotti's Syndrome are as follows:

Arthritis of the pseudo-articulation – In LSTV types where the transverse process forms a “false joint” with the sacrum (i.e., type II & type IV), the bone-on-bone contact leads to mechanical grinding, inflammation, and the formation of osteophytes. This can lead to direct localized, aching pain [6] .

Radiculopathy – Radiculopathy (i.e., pain radiating down the leg) can occur through several mechanisms. This can be caused by direct compression of the exiting L5 nerve root due to the enlarged transverse process. Alternatively, the local inflammation caused by osteophyte formation due to pseudo-articulation can lead to irritation of the exiting L5 nerve root. Alternatively, the hypermobility at the L4-L5 level due to LSTV can cause disc herniation at L4 or L5 [7] .

Pathophysiology

Bertolotti's syndrome is characterized by sacralization of the lowest lumbar vertebral body and lumbarization of the uppermost sacral segment. It involves a total or partial unilateral or bilateral fusion of the transverse process of the lowest lumbar vertebra to the sacrum, leading to the formation of a transitional 5th lumbar vertebra. Of importance is that this syndrome will result in a pain generating 4th lumbar disc resulting in a "sciatic" type of a pain correlating to the 5th lumbar nerve root. Usually the transitional vertebra will have a "spatulated" transverse process on one side resulting in articulation or partial articulation with the sacrum or at time the ilium and in some cases with both. This results in limited / altered motion at the lumbo-sacral articulation. This loss of motion will then be compensated for at segments superior to the transitional vertebra resulting in accelerated degeneration and strain through the L4 disc level which can become symptomatic and inflame the adjacent L5 nerve root resulting in "sciatic" or radicular pain patterns. Scoliosis is frequently found to be associated. [8]

Classification

Schematic presentation of the classification of unilateral and bilateral LSTV according to the proposed Jenkins classification Jenkins Classification.jpg
Schematic presentation of the classification of unilateral and bilateral LSTV according to the proposed Jenkins classification

Bertolotti's Syndrome is classified via the Jenkins Classification. [9] The Jenkins classification is separated into 4 categories: Type 1, 2, 3, and 4 with subclassifications of: L (left) or R (right) prominence, A (unilateral), B (bilateral), or C (Type 2 with Type 1 and contralateral 2 anatomy or Type 4 with a gap > 10 mm and contralateral Type 3 anatomy), + L (left) or R (right) iliac contact.

Type 1: A dysplastic transverse process that shows a gap of less than 10mm, but greater than 2mm across the lumbosacral junction.

Type 2: Pseudo-articulation between adjacent transverse processes with a gap of less than 2 mm.

Type 3: Complete fusion lateral to the facet at the ala, without spontaneous fusion of the disk or facet joints, of the lumbosacral junction.

Type 4: Presence of unilaterally fused side with varying pseudoarticulation on the contralateral side (Type 4A, 4B, or 4C).

Diagnosis

The diagnosis depends on appropriate patient history backed by imaging studies like X ray and MRI. Lumbosacral spine radiographs help in the identification of the skeletal abnormality. MRI helps in confirmation.[ citation needed ]

Treatment

Non-surgical treatments include steroid injections in the lower back or radiofrequency sensory ablation. [10] Physical therapy interventions are also helpful in early cases and are focused on mobilization, neural stretching, and core strengthening exercises. Surgical intervention is usually a last resort if all conservative methods fail. [3] It can be treated surgically with posterolateral fusion or resection of the transitional articulation. [11] [12] [ citation needed ]

References

  1. ↑ Quinlan, JF; Duke, D; Eustace, S (30 August 2006). "Bertolotti's syndrome. A cause of back pain in young people". The Bone & Joint Journal. 88 (9): 1183–6. doi:10.1302/0301-620X.88B9.17211. PMID   16943469.
  2. ↑ Bertolotti M: Contributo alla conoscenza dei vizi differenzazione regionale del rachide con speciale riguardo all assimilazione sacrale della V. lombare. Radiol Med. 1917, 4: 113-144.
  3. 1 2 Jancuska, Jeffrey; Spivak, Jeffrey; Bendo, John (29 July 2015). "A Review of Symptomatic Lumbosacral Transitional Vertebrae: Bertolotti's Syndrome". International Journal of Spine Surgery. 9: 42. doi:10.14444/2042. PMC   4603258 . PMID   26484005.
  4. ↑ Crane, Joshua; Cragon, Robert; O’Neill, John; Berger, Amnon A.; Kassem, Hisham; Sherman, William F.; Paladini, Antonella; Varrassi, Giustino; Odisho, Amira S.; Miriyala, Sumitra; Kaye, Alan D. (2021-06-22). "A Comprehensive Update of the Treatment and Management of Bertolotti's Syndrome: A Best Practices Review". Orthopedic Reviews. 13 (2). doi:10.52965/001c.24980. PMC   8567758 . PMID   34745474.
  5. ↑ Alonzo, Francisco; Cobar, Andres; Cahueque, Mario; Prieto, Jose Antonio (2018-10-01). "Bertolotti's syndrome: an underdiagnosed cause for lower back pain". Journal of Surgical Case Reports. 2018 (10). doi:10.1093/jscr/rjy276. ISSN   2042-8812. PMC   6191822 . PMID   30356933.
  6. ↑ "RadSource".
  7. ↑ Jancuska, Jeffrey M.; Spivak, Jeffrey M.; Bendo, John A. (2015-01-01). "A Review of Symptomatic Lumbosacral Transitional Vertebrae: Bertolotti's Syndrome". International Journal of Spine Surgery. 9: 42. doi:10.14444/2042. ISSN   2211-4599. PMC   4603258 . PMID   26484005.
  8. ↑ Jain, Anuj; Agarwal, Anil; Jain, Suruchi; Shamshery, Chetna (2013). "Bertolotti Syndrome: A Diagnostic and Management Dilemma for Pain Physicians". The Korean Journal of Pain. 26 (4): 368–73. doi:10.3344/kjp.2013.26.4.368. PMC   3800709 . PMID   24156003.
  9. ↑ Jenkins, Arthur L; O'Donnell, John; Chung, Richard J.; Jenkins, Sarah; Hawks, Charlotte; Lazarus, Daniella; McCaffrey, Tara; Terai, Hiromi; Harvie, Camryn (March 2023). "Redefining The Classification for Bertolotti's Syndrome: Anatomical Findings in The Lumbosacral Transitional Vertebrae Guide Treatment Selection". World Neurosurgery. 175: e303 –e313. doi: 10.1016/j.wneu.2023.03.077 . PMID   36965661. S2CID   257733733.
  10. ↑ Mitra, R; Carlisle, M (23 November 2008). "Bertolotti's Syndrome: A Case Report". Pain Practice. 9 (2): 152–4. doi: 10.1111/j.1533-2500.2008.00253.x . PMID   19037900. S2CID   24091334.
  11. ↑ Jenkins, Arthur L.; Chung, Richard J.; O'Donnell, John; Hawks, Charlotte; Jenkins, Sarah; Lazarus, Daniella; McCaffrey, Tara; Terai, Hiromi; Harvey, Camryn; Matsoukas, Stavros (2023-03-08). "Redefining the Treatment of Lumbosacral Transitional Vertebrae for Bertolotti Syndrome: Long-Term Outcomes Utilizing the Jenkins Classification to Determine Treatment". World Neurosurgery. 175: e21 –e29. doi: 10.1016/j.wneu.2023.03.012 . ISSN   1878-8750. PMID   36898630. S2CID   257438800.
  12. ↑ Chung, Richard J.; Harvie, Camryn; O'Donnell, John; Jenkins, Sarah; Jenkins, Arthur L. (2023-02-13). "Surgical outcome of a patient with Bertolotti's syndrome in whom the established Castellvi classification system failed: illustrative case". Journal of Neurosurgery: Case Lessons. 5 (7) CASE22450. doi: 10.3171/CASE22450 . PMC   10550603 . PMID   38015013. S2CID   256862124.

Further reading

Paraskevas, Georgios; Tzaveas, Alexandros; Koutras, Georgios; Natsis, Konstantinos (2009). "Lumbosacral transitional vertebra causing Bertolotti's syndrome: A case report and review of the literature". Cases Journal. 2: 8320. doi:10.4076/1757-1626-2-8320. PMC   2740102 . PMID   19830065.


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