What are the treatment options for a patient with Bertolotti syndrome, a rare condition characterized by an abnormal formation of the fifth lumbar vertebra, presenting with lower back pain?

Bertolotti Syndrome Treatment

For patients with Bertolotti syndrome presenting with chronic lower back pain, begin with targeted local anesthetic and steroid injection directly into the pseudoarticulation, as this provides significantly superior symptomatic relief compared to non-specific injections or conservative management alone. 1, 2

Initial Diagnostic Approach

Bertolotti syndrome results from a lumbosacral transitional vertebra (LSTV) creating a pseudoarticulation between the L5 transverse process and sacral ala, which functions as a semi-mobile cartilaginous joint causing mechanical pain. 1 This condition is frequently missed—33% of patients with LSTV remain undiagnosed by their providers, leading to prolonged workup and unnecessary treatments. 1

Key Diagnostic Features to Identify:

• Imaging confirmation: Castellvi type IIa or IIb LSTV on plain radiographs, CT, or MRI showing pseudoarticulation between L5 transverse process and sacral ala 1, 2
• Clinical presentation: Chronic lower back pain without disc herniation or other focal pathology on lumbar MR scans 3
• Pain pattern: Symptoms exacerbated by ambulation and mechanical loading 3
• Radicular symptoms: May present with sciatica-like symptoms (e.g., L5 distribution numbness) despite absence of disc pathology 3

Critical pitfall: Undiagnosed patients undergo significantly more epidural steroid injections (ESIs) at non-specific locations and experience longer time from symptom onset to appropriate treatment compared to those with correctly identified LSTV. 1, 4

Stepwise Treatment Algorithm

Step 1: Targeted Pseudoarticulation Injection (First-Line)

Inject local anesthetic and corticosteroid directly into the pseudoarticulation under fluoroscopic guidance. 2, 5

• This approach demonstrates significantly superior symptomatic improvement at immediate follow-up compared to all other injection types (p = 0.002). 1
• Patients diagnosed with Bertolotti syndrome undergo fewer total injections when treated appropriately versus those whose LSTV remains unidentified (p = 0.031). 1
• Conservative management with lidocaine and steroids at the pseudoarticulation can effectively manage symptoms, even in elderly patients with first presentation. 5

Evidence strength: This is the only injection approach that specifically targets the pain generator in Bertolotti syndrome, unlike non-specific ESIs or facet injections that address incorrect anatomical sites. 1

Step 2: Radiofrequency Ablation of Pseudoarticulation (If Step 1 Provides Temporary Relief)

If pseudoarticulation injection provides significant but temporary relief, proceed to radiofrequency ablation of the pseudoarticulation. 2

• This extends the duration of pain relief beyond what injection alone provides. 2
• Confirms the pseudoarticulation as the definitive pain generator before considering surgical intervention. 2

Step 3: Surgical Resection (Pseudoarthrectomy) for Refractory Cases

For patients who respond well to pseudoarticulation injections but experience recurrent symptoms, offer complete endoscopic or minimally invasive resection of the pseudoarticulation. 3, 2

• Pseudoarthrectomy results in significantly greater symptom relief at most recent follow-up compared to patients who undergo continued injections without surgery (p < 0.001). 1
• Minimally invasive resection of the L5 "wide" transverse process can resolve pain that was previously exacerbated by ambulation. 3
• Patients can only be offered pseudoarthrectomy once the LSTV is properly identified, making timely diagnosis critical. 1

Surgical approach: Complete endoscopic resection of the pseudo-joint is the definitive treatment. 2

Fusion is NOT indicated: Unlike standard degenerative lumbar conditions, fusion of surrounding segments is not the primary surgical treatment for Bertolotti syndrome—the goal is resection of the pseudoarticulation itself. 1, 2

Quality of Life Considerations

Patients with Bertolotti syndrome experience significantly worse physical and mental health outcomes compared to age- and sex-matched patients with lumbosacral radiculopathy due to disc herniation. 4

• Bertolotti patients have significantly worse PROMIS physical health T-scores when adjusted for prior ESIs and time from symptom onset. 4
• They also demonstrate significantly worse PROMIS mental health T-scores at univariate analysis. 4
• Both groups show mild depression and clinically meaningful reduction in quality of life, but Bertolotti patients are affected more significantly. 4
• Bertolotti patients undergo significantly longer workup and more ESIs before receiving appropriate treatment. 4

Clinical implication: Proper and timely identification of LSTV dramatically alters the clinical course, as patients can only receive targeted treatment once the condition is diagnosed. 1

Critical Pitfalls to Avoid

• Do not perform non-specific epidural steroid injections without first confirming whether an LSTV is present—these provide inferior relief compared to targeted pseudoarticulation injections. 1
• Do not assume absence of disc herniation rules out structural pathology—Bertolotti syndrome should be in the differential for refractory back pain without disc pathology on MRI. 3
• Do not delay surgical referral for patients who respond to pseudoarticulation injections but have recurrent symptoms—pseudoarthrectomy provides superior long-term outcomes compared to repeated injections. 1
• Do not overlook LSTV on imaging—one-third of patients with this anatomical variant have it missed by providers, leading to prolonged suffering and unnecessary treatments. 1

When Conservative Management Applies

While general low back pain guidelines recommend 6 weeks of conservative management before imaging or interventions 6, Bertolotti syndrome is a specific structural diagnosis that requires targeted treatment once identified. 1, 2

• Standard conservative measures (NSAIDs, activity modification, physical therapy) recommended for non-specific low back pain 6 are less effective for Bertolotti syndrome because they do not address the mechanical pain generator. 1
• Once LSTV is identified on imaging, proceed directly to targeted pseudoarticulation injection rather than prolonging non-specific conservative treatments. 1, 2