Diagnosing Bertolotti Syndrome (BSy) requires more than simply identifying a lumbosacral transitional vertebra (LSTV) on imaging. While LSTVs are common within the general population, many individuals remain asymptomatic throughout their lives.
A diagnosis of Bertolotti Syndrome (BSy) should be based on the correlation of Patient History, clinical presentation, physical examination findings, imaging studies, and diagnostic investigations.
Correctly Diagnosing Patients
1.
Access Patient History
2.
Conduct Physical Exam
3.
Perform Diagnostic Imaging
4.
Administer Diagnostic Injection
Assess & Review Patient History
The diagnostic process begins with a comprehensive patient history.
Patients may present with chronic low back pain, sacroiliac region pain, buttock pain, groin pain, hip pain, or radicular symptoms affecting the lower extremities. Symptoms may be unilateral or bilateral and can vary significantly depending on the morphology of the transitional vertebra and associated biomechanical changes.
Important considerations include:
Pain location and distribution
Duration of symptoms
Aggravating and relieving factors
Previous injuries or trauma
Occupational and sporting demands
Previous treatments and response
Family history of spinal or connective tissue disorders
Particular attention should be paid to symptoms that appear mechanical in nature and those that have failed to respond to conventional treatment approaches in the past.
Conduct a thorough Physical Examination
A thorough musculoskeletal and neurological examination should be performed.
Assessment may include:
Lumbar range of motion
Palpation of the lumbosacral junction
Sacroiliac joint assessment
Hip examination
Neurological assessment of the lower limbs
Gait and postural evaluation
Provocation tests may help identify potential pain generators; however, no physical examination finding is considered diagnostic for Bertolotti Syndrome (BSy).
The purpose of the examination is to identify potential sources of pain and determine whether findings correlate with the transitional anatomy identified on imaging.
Imaging Assessment
Appropriate imaging is essential for identifying and characterising the lumbosacral transitional vertebra.
Investigations may include:
Standing lumbar spine radiographs - AP Anteroposterial View and Lateral View
Ferguson view radiographs where appropriate
CT imaging for detailed bony anatomy
MRI for assessment of discs, nerves, facet joints, and adjacent structures
Imaging should evaluate:
Morphology of the transitional vertebra
Presence of pseudoarticulation or fusion
Adjacent segment degeneration
Facet arthropathy
Foraminal narrowing
Disc pathology
Other potential pain generators
The presence of an LSTV alone should not be considered sufficient evidence for a diagnosis of Bertolotti Syndrome(BSy).
NOTE: While the Castellvi classification was a great starting point, it is clear that its use is limited due to its lack of scope. When analyzing LSTV it is important to take into consideration all the abnormal variants that can come with this condition in order to best assess the patients discomfort.
After seeing the deficiencies of Castellvi, Dr. Arthur Jenkins and his colleagues created an updated LSTV classification system (Jenkins, O' Donnell, et al. 20 23). The Jenkins classification assesses not only the herniation itself like Castellvi but the overall anatomy of LSTV. One key feature that Jenkins adds is the positioning of the larger transverse process to the iliac crest. By adding this piece into the classification allows for complete anatomical assessment of LSTV deformities.
Jenkins Classification Read Here
Administer Diagnostic Injection
In cases where doubt still exists fluoroscopy image guided diagnostic injection is perhaps the single best tool we have to determine if the transitional segment is a pain generator.
In some cases this can be an injection into:
The pseudoarticulation or
The transitional articulation using local anesthetic (e.g., lidocaine or bupivacaine).
If there is substantial relief approx 80% from the patients usual pain after injection this is good evidence that this structure may be involved with their symptoms and considered positive.
Diagnostic injections aren't always perfect and for some they can test negative due to other contributing pain generators within nearby areas and also if the injection was not placed correctly. In these cases the injection should be done again at a later date to determine if it was false test. But diagnostic injections can be a useful tool in the diagnostic puzzle and may aid in future treatment plans to rule in or rule out further pain generators. A Patient may have more than one source and each injection will need to be completed at least a week apart.
AccessDiagnostic Flow Chart
Rule-Outs
As with all musculoskeletal pathology, other causes of low back and pelvic pain symptoms must be ruled out before we can confidently ascribe symptoms to the transitional vertebra.
Some of these include: Degenerative lumbar disc pathology, Facet joint pain, SI joint dysfunction, Hip pathology,Radicular symptoms, Inflammatory pathology, Other spinal pathology - Often, patients will have more than one of these conditions present.
Unless your clinical exam and imaging findings correlate with the patient’s symptoms, the transitional vertebra is irrelevant.
Making the transition from lifter to labeler is the step that will make or break your diagnostic process.
Remember, we are not simply diagnosing patients with anatomic variations. We want to know if this transition segment is contributing to their pain.
You can diagnose Bertolotti when:
There is presence of an LSTV.
Your clinical signs and symptoms match up with the patient’s transitional anatomy. You have gone through your differential and either ruled out other possible pathologies, or are using those as part of your overall treatment strategy.
You have done some sort of diagnostic testing to confirm the transitional segment as the pain generator.
Remember, diagnosing solely on imaging is placing a label on a patient. Use their history and physical to DIAGNOSE them.
Clinical Pearl
Just because you see an LSTV on an x-ray does not mean you can throw your differential out the window and say “aha! This is why my patient is in pain!” Think of finding that juicy LSTV as step one of your diagnosis, not step one thousand.