Bertolotti Syndrome
Bertolotti syndrome is a spinal condition where the lowest vertebra in your back forms an abnormal connection with your pelvis. This anatomical variation can cause chronic lower back pain and is identified through medical imaging such as X-rays, CT scans, and MRI. The condition occurs when the fifth lumbar vertebra develops an enlarged side projection that contacts or fuses with the pelvic bones, creating an irregular joint that may become inflamed and painful.
What is Bertolotti Syndrome
Bertolotti syndrome is a medical condition that occurs when the lowest vertebra in your spine forms an abnormal connection with your pelvis. This happens when the fifth lumbar vertebra (L5) develops an unusually large side projection called a transverse process that either touches or fuses with your sacrum or iliac bone in the pelvis.
The condition was first described by Italian physician Mario Bertolotti in 1917. It represents a type of transitional vertebra where the normal anatomy between your spine and pelvis becomes altered. This anatomical variation can be present from birth but may not cause symptoms until later in life.
The abnormal connection creates what doctors call a pseudoarthrosis, which is essentially a false joint. This irregular joint formation can lead to inflammation, pain, and restricted movement in the lower back region.
How Bertolotti Syndrome Appears on Medical Imaging
Radiologists identify Bertolotti syndrome through various imaging techniques, with each method providing specific information about the condition’s severity and characteristics.
X-ray Findings in Bertolotti Syndrome
Standard X-rays often provide the first clue about Bertolotti syndrome. On these images, radiologists look for enlarged transverse processes extending from the L5 vertebra toward the pelvis. The abnormal bone formation appears as an extended projection that may partially or completely bridge the gap between the spine and pelvis.
X-rays can show different degrees of connection, from a simple enlargement of the transverse process to complete bony fusion with the sacrum. The condition is classified into different types based on how much contact exists between the vertebra and pelvis.
CT Scan Details of Bertolotti Syndrome
Computed tomography scans provide more detailed information about bone structure in Bertolotti syndrome. CT images can clearly show the exact shape and size of the enlarged transverse process and reveal whether a true bony fusion has occurred.
These scans help radiologists determine if there is a pseudoarthrosis present, which appears as an irregular joint space with surrounding bone changes. CT scans can also identify associated arthritis or bone spurs that commonly develop around the abnormal connection.
MRI Characteristics of Bertolotti Syndrome
Magnetic resonance imaging offers the most detailed view of Bertolotti syndrome by showing both bone and soft tissue changes. MRI can reveal inflammation around the abnormal joint, including swelling in nearby muscles and ligaments.
Symptoms Associated with Bertolotti Syndrome
The symptoms of Bertolotti syndrome can vary significantly between individuals, with some people experiencing no discomfort while others develop chronic pain that significantly impacts their daily activities.
Lower Back Pain Patterns
The most common symptom is lower back pain, typically located on one side where the abnormal connection exists. This pain often feels deep and aching, and may worsen with certain movements or prolonged sitting or standing.
Many patients describe the pain as different from typical muscle strain, noting that it feels more structural or mechanical in nature. The pain may radiate into the hip or upper thigh but rarely extends below the knee.
Movement Limitations
People with Bertolotti syndrome often notice restrictions in their spinal mobility. Bending sideways toward the affected side may be particularly difficult or painful. Some individuals experience stiffness in the morning or after periods of inactivity.
The abnormal connection can also affect the normal mechanics of walking and standing, leading to compensatory movements that may cause additional strain on other parts of the spine.
Causes and Risk Factors for Bertolotti Syndrome
Bertolotti syndrome is primarily a congenital condition, meaning it develops during fetal growth in the womb. The exact cause of this developmental variation is not fully understood, but it appears to result from incomplete separation of spinal segments during early development.
Genetic Factors in Bertolotti Syndrome
While not directly inherited, there may be genetic factors that predispose some individuals to develop transitional vertebrae. Family history studies suggest that spinal variations can run in families, though the inheritance pattern is not clearly established.
Environmental Influences
Some researchers suggest that environmental factors during pregnancy might influence spinal development, but no specific causes have been definitively identified. The condition appears to occur randomly during normal spinal formation.
Diagnosis and Medical Evaluation
Diagnosing Bertolotti syndrome requires a combination of clinical evaluation and imaging studies. Doctors typically start with a detailed medical history and physical examination to understand symptom patterns and identify potential causes of lower back pain.
Clinical Assessment
During the physical examination, doctors look for specific signs that might suggest Bertolotti syndrome. These include localized tenderness over the area where the abnormal connection exists and pain that worsens with certain spinal movements.
Doctors may also perform specific tests to assess spinal mobility and identify movement patterns that trigger symptoms. The clinical presentation must be correlated with imaging findings to confirm the diagnosis.
Imaging Protocol for Bertolotti Syndrome
The diagnostic process typically begins with X-rays of the lumbar spine and pelvis. If these images suggest Bertolotti syndrome, additional imaging with CT or MRI may be recommended to better characterize the anatomy and identify associated changes.
Advanced imaging helps determine the severity of the condition and guides treatment planning by showing the extent of bony changes and any associated soft tissue inflammation.
Treatment Options for Bertolotti Syndrome
Treatment for Bertolotti syndrome depends on symptom severity and how much the condition impacts daily activities. Many people with mild symptoms respond well to conservative management approaches.
Conservative Management
Initial treatment typically includes physical therapy focused on improving spinal mobility and strengthening supporting muscles. Anti-inflammatory medications can help reduce pain and swelling around the abnormal joint.
Activity modification and ergonomic adjustments may also be beneficial. Some patients find relief with heat therapy, massage, or chiropractic care, though these approaches should be used cautiously and under professional guidance.
Advanced Treatment Approaches
For persistent symptoms that don’t respond to conservative care, more targeted interventions may be considered. These can include steroid injections into the area around the abnormal connection to reduce inflammation and pain.
In severe cases where conservative treatment fails, surgical options may be discussed. Surgical approaches can include removal of the enlarged transverse process or fusion of the affected spinal segment, though surgery is typically reserved for cases with significant disability.
Living with Bertolotti Syndrome
Many people with Bertolotti syndrome can maintain active, productive lives with appropriate management strategies. Understanding the condition and working with doctors to develop an effective treatment plan is essential for optimal outcomes.
Regular exercise that focuses on core strengthening and flexibility can help maintain spinal health and reduce symptom flare-ups. Learning proper body mechanics for lifting and daily activities can also prevent aggravation of symptoms.
Conclusion
Bertolotti syndrome represents a specific type of spinal variation that can cause chronic lower back pain and mobility limitations. While the condition is present from birth, symptoms may not develop until later in life. Modern imaging techniques allow for accurate diagnosis and help guide appropriate treatment approaches. With proper management, most people with Bertolotti syndrome can effectively control their symptoms and maintain good quality of life. If you have been diagnosed with this condition, working closely with your healthcare team to develop a comprehensive treatment plan will give you the best chance for successful symptom management.
References
- McGrath K, Schmidt E, Rabah N, Abubakr M, Steinmetz M. Clinical assessment and management of Bertolotti Syndrome: a review of the literature. The Spine Journal. 2021;21(8):1286-1296. Available at: https://pubmed.ncbi.nlm.nih.gov/33676018/
- Alonzo F, Cobar A, Cahueque M, Prieto JA. Bertolotti’s syndrome: an underdiagnosed cause for lower back pain. Journal of Surgical Case Reports. 2018;2018(10):rjy276. Available at: https://academic.oup.com/jscr/article/2018/10/rjy276/5133596
- Miller AE, Zhang A. Bertolotti Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. Available at: https://www.ncbi.nlm.nih.gov/books/NBK585032/