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]

Presentation

A chronic, persistent low back pain along with buttock pain is the most important presentation. Radicular pain is observed.[ citation needed ]

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. [4]

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. [5] 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. [6] Physical therapy interventions are also helpful in early cases and are focused around 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. [7] [8] [ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Sacrum</span> Bone of the spine

The sacrum, in human anatomy, is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1–S5) between ages 18 and 30.

<span class="mw-page-title-main">Lumbar vertebrae</span> Five bones of the spine in the lower back

The lumbar vertebrae are located between the thoracic vertebrae and pelvis. They form the lower part of the human back in humans, and the tail end of the back in quadrupeds. In humans, there are five lumbar vertebrae. The term is used to describe the anatomy of humans and quadrupeds, such as horses, pigs, or cattle. These bones are found in particular cuts of meat, including tenderloin or sirloin steak.

<span class="mw-page-title-main">Discectomy</span> Surgical removal of an intervertebral disc

A discectomy is the surgical removal of abnormal disc material that presses on a nerve root or the spinal cord. The procedure involves removing a portion of an intervertebral disc, which causes pain, weakness or numbness by stressing the spinal cord or radiating nerves. The traditional open discectomy, or Love's technique, was published by Ross and Love in 1971. Advances have produced visualization improvements to traditional discectomy procedures, or endoscopic discectomy. In conjunction with the traditional discectomy or microdiscectomy, a laminotomy is often involved to permit access to the intervertebral disc. Laminotomy means a significant amount of typically normal bone is removed from the vertebra, allowing the surgeon to better see and access the area of disc herniation.

<span class="mw-page-title-main">Laminectomy</span> Surgical removal of a lamina

A laminectomy is a surgical procedure that removes a portion of a vertebra called the lamina, which is the roof of the spinal canal. It is a major spine operation with residual scar tissue and may result in postlaminectomy syndrome. Depending on the problem, more conservative treatments may be viable.

<span class="mw-page-title-main">Spondylolisthesis</span> Displacement of one spinal vertebra compared to another

Spondylolisthesis is when one spinal vertebra in slips out of place compared to another. While some medical dictionaries define spondylolisthesis specifically as the forward or anterior displacement of a vertebra over the vertebra inferior to it, it is often defined in medical textbooks as displacement in any direction.

<span class="mw-page-title-main">Cauda equina syndrome</span> Nerve damage at the end of the spinal cord

Cauda equina syndrome (CES) is a condition that occurs when the bundle of nerves below the end of the spinal cord known as the cauda equina is damaged. Signs and symptoms include low back pain, pain that radiates down the leg, numbness around the anus, and loss of bowel or bladder control. Onset may be rapid or gradual.

<span class="mw-page-title-main">Klippel–Feil syndrome</span> Congenital condition characterised by fusion of two or more vertebrae in the neck

Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck. It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Most people only have one or two of those symptoms so it may not be noticeable without medical imaging.

<span class="mw-page-title-main">Spinal fusion</span> Immobilization or ankylosis of two or more vertebrae by fusion of the vertebral bodies

Spinal fusion, also called spondylodesis or spondylosyndesis, is a surgery performed by orthopaedic surgeons or neurosurgeons that joins two or more vertebrae. This procedure can be performed at any level in the spine and prevents any movement between the fused vertebrae. There are many types of spinal fusion and each technique involves using bone grafting—either from the patient (autograft), donor (allograft), or artificial bone substitutes—to help the bones heal together. Additional hardware is often used to hold the bones in place while the graft fuses the two vertebrae together. The placement of hardware can be guided by fluoroscopy, navigation systems, or robotics.

<span class="mw-page-title-main">Conus medullaris</span> Lower part of the spinal cord

The conus medullaris or conus terminalis is the tapered, lower end of the spinal cord. It occurs near lumbar vertebral levels 1 (L1) and 2 (L2), occasionally lower. The upper end of the conus medullaris is usually not well defined, however, its corresponding spinal cord segments are usually S1–S5.

Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.

<span class="mw-page-title-main">Radiculopathy</span> Medical condition

Radiculopathy, also commonly referred to as pinched nerve, refers to a set of conditions in which one or more nerves are affected and do not work properly. Radiculopathy can result in pain, weakness, altered sensation (paresthesia) or difficulty controlling specific muscles. Pinched nerves arise when surrounding bone or tissue, such as cartilage, muscles or tendons, put pressure on the nerve and disrupt its function.

<span class="mw-page-title-main">Diastematomyelia</span> Birth defect in which part of the spinal cord is split

In neurology, diastematomyelia is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra in the longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous, cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as diplomyelia, which is true duplication of the spinal cord.

<span class="mw-page-title-main">Laminotomy</span> Surgical procedure

A laminotomy is an orthopaedic neurosurgical procedure that removes part of the lamina of a vertebral arch in order to relieve pressure in the vertebral canal. A laminotomy is less invasive than conventional vertebral column surgery techniques, such as laminectomy because it leaves more ligaments and muscles attached to the spinous process intact and it requires removing less bone from the vertebra. As a result, laminotomies typically have a faster recovery time and result in fewer postoperative complications. Nevertheless, possible risks can occur during or after the procedure like infection, hematomas, and dural tears. Laminotomies are commonly performed as treatment for lumbar spinal stenosis and herniated disks. MRI and CT scans are often used pre- and post surgery to determine if the procedure was successful.

<span class="mw-page-title-main">Spinal cord</span> Long, tubular central nervous system structure in the vertebral column

The spinal cord is a long, thin, tubular structure made up of nervous tissue that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column (backbone) of vertebrate animals. The center of the spinal cord is hollow and contains a structure called the central canal, which contains cerebrospinal fluid. The spinal cord is also covered by meninges and enclosed by the neural arches. Together, the brain and spinal cord make up the central nervous system.

<span class="mw-page-title-main">Facet syndrome</span> Medical condition

Facet syndrome is a syndrome in which the facet joints cause painful symptoms. In conjunction with degenerative disc disease, a distinct but functionally related condition, facet arthropathy is believed to be one of the most common causes of lower back pain.

<span class="mw-page-title-main">Tarlov cyst</span> Medical condition

Tarlov cysts, are type II innervated meningeal cysts, cerebrospinal-fluid-filled (CSF) sacs most frequently located in the spinal canal of the sacral region of the spinal cord (S1–S5) and much less often in the cervical, thoracic or lumbar spine. They can be distinguished from other meningeal cysts by their nerve-fiber-filled walls. Tarlov cysts are defined as cysts formed within the nerve-root sheath at the dorsal root ganglion. The etiology of these cysts is not well understood; some current theories explaining this phenomenon have not yet been tested or challenged but include increased pressure in CSF, filling of congenital cysts with one-way valves, and/or inflammation in response to trauma and disease. They are named for American neurosurgeon Isadore Tarlov, who described them in 1938.

<span class="mw-page-title-main">Vertebral column</span> Bony structure found in vertebrates

The vertebral column, also known as the spinal column, spine or backbone, is the core part of the axial skeleton in vertebrate animals. The vertebral column is the defining and eponymous characteristic of the vertebrate endoskeleton, where the notochord found in all chordates has been replaced by a segmented series of mineralized irregular bones called vertebrae, separated by fibrocartilaginous intervertebral discs. The dorsal portion of the vertebral column houses the spinal canal, an elongated cavity formed by alignment of the vertebral neural arches that encloses and protects the spinal cord, with spinal nerves exiting via the intervertebral foramina to innervate each body segments.

<span class="mw-page-title-main">Vertebra</span> Bone in the vertebral column

Each vertebra is an irregular bone with a complex structure composed of bone and some hyaline cartilage, that make up the vertebral column or spine, of vertebrates. The proportions of the vertebrae differ according to their spinal segment and the particular species.

The furcal nerve links the lumbar plexus and the sacral plexus. It has its own dorsal and ventral branches with fibres that branch out to become part of the femoral and obturator nerves. The furcal nerve is found in the lumbosacral trunk most commonly at the level of the fourth lumbar vertebra (L4).

Degenerative lumbosacral stenosis (DLSS), also known as cauda equina syndrome, is a pathologic degeneration in the lumbosacral disk in dogs; affecting the articulation, nerve progression, tissue and joint connections of the disk. This degeneration causes compressions in soft tissues and nerve root locations in the ultimate caudal area of the medulla, causing neuropathic pain in the lumbar vertebrae.

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. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.