Not Just Another Patient with Low Back Pain. Discovering Bertolotti’s Syndrome

HPI: Patient is a 64 y/o Spanish speaking female presenting with an acute exacerbation of chronic lower back pain.  Approximately 3 years ago she twisted her right ankle and believes this is what originally injured her lower back. Since that time, she has experienced discomfort with varying intensity, but this was her worst and longest event yet. For the past two weeks her pain has increased causing her to use a cane to ambulate.  Her pain is now affecting all activities of daily living.  She denies numbness, weakness, and tingling of the lower extremities.  No history of trauma or incontinence.  She states her pain is worse in the morning and is amplified by movement.  Over the years she had been seen multiple times by her PCP and in the ED for her lower back pain with opiates prescribed, but no imaging.

• PMHx: Hypercholesterolemia, thrombophilia
• PSHx: Hysterectomy
• Social Hx: No tobacco, alcohol, or IVDU
• Home Meds: Warfarin, Simvastatin, Tramadol prn, Diazepam prn
• ROS: Negative other than HPI and PMHx
• PE: Vitals were WNL. Lumbar spine motion was limited secondary to pain at terminal flexion, extension, and side bending.  The lower extremity physical exam was unremarkable from a neurovascular standpoint: strength, sensation, and DTR’s intact and symmetric.  Back exam demonstrated point tenderness to the right lower lumbar region extending laterally to the iliac crest.  Negative seated straight leg raise bilaterally.  Skin was normal with no over lying erythema or warmth.

MDM and Conclusion

Because of her significant discomfort and pain—which was induced with movement, increased pain with back extension and twisting, worse in the morning, and TTP just lateral to the vertebrae—differential diagnosis included spondylosis, spondylolisthesis, facet syndrome and sacroiliitis.  With the lack of imaging in her history, the chronicity of her discomfort and bony tenderness, lumbar and sacral spine films were ordered.

While her films did not demonstrate any signs of spondylolysis/thesis, she did have an abnormal finding of elongation and protuberance of the right transverse process at L5, which was superiorly located compared to the left L5 transverse process with associated pseudoarticulation with the iliac crest.  This was in the exact location of her discomfort.  Patient was made aware of these findings and was given a Medrol dose pack for inflammation of the arthritic changes occurring at the pseudarthrosis site.  Patient was given a referral to neurosurgery for follow up. 

Bertolotti’s syndrome (BS), also known as lumbosacral transitional vertebra, was first described by Dr. Mario Bertolotti in 1917.  It is characterized by the presence of a variation in L5 with a large transverse process which is either articulated or fused with the sacrum or, less commonly so, the iliac crest.  This can produce a chronic, persistent lower back pain.  The discomfort can be intermittent secondary to arthritic exacerbations around the pseudoarticulation.  This syndrome affects approximately 4-8% of the population and is an important cause of low back pain in younger patients, many of which will be incorrectly diagnosed with sacroiliitis. Most patients with this syndrome present in their 20’s and 30’s; however, some, like our patient, may present later as arthritic changes occur.

For a patient with chronic low back pain with TTP just lateral to the spine and no prior imaging, a plain radiograph of the lumbar sacral spine is all it takes for diagnosis.  Treatment for Bertolotti’s syndrome includes interventions such as local anesthetic with steroid injection into the pseudoarticulation, physical therapy, or resection of the accessory joint if conservative treatment fails.  While our patient did not have radicular pain, it is not uncommon to have sciatica as the adjacent L5 nerve root can become irritated.

The cost of diagnosis and treating LBP in the US is estimated to be $240 billion.  In light of the economic and social impact of low back pain, it is important to be aware of and include Bertolotti’s syndrome in your list of differential diagnosis in a patient with chronic low back pain.  While not a deadly diagnosis, the pain can be debilitating and adversely affect daily living. For our patient, one X-ray validated years of symptoms that previously had no explanation and was her first step towards a meaningful treatment plan.

Callie Davies MD
Sports Medicine Fellow

Dr. Steve Erickson MD

Dr. Blackburn MD FACEP