What is Bertolotti’s Syndrome?
Bertolotti’s Syndrome is a spine condition is a source of lower back pain that is caused by a slight difference in how the bones at the very bottom of your spine are shaped. This area, where your lower back (lumbar spine) meets your pelvis (sacrum), is called the lumbosacral junction. This variation in your spine is congenital, i.e., it was present from birth.
Think of your spine as a stack of building blocks. In most people, the last block of the lower back (called L5) is separate from the sacrum below it. In people with this condition, the L5 bone is either abnormally large and "bumps into" the sacrum, or it's partially or fully fused to it. This extra connection is called a lumbosacral transitional vertebra (LSTV).
Having a lumbosacral transitional vertebra (LSTV) is not always a problem
It's important to know that just having this bone variation (LSTV) does not mean you have Bertolotti's Syndrome.
LSTV is surprisingly common and is found in up to 3 out of every 10 people.
However, most of these people never experience any pain or symptoms from it. The LSTV is often discovered by accident when they get an X-ray or MRI for another reason.
Bertolotti’s Syndrome is diagnosed only when a doctor confirms that the LSTV is the direct cause of a person's lower back pain.
So, while many people have this anatomical variation, only a small number develop the painful symptoms that define Bertolotti's Syndrome.
How doctors classify the lumbosacral transitional vertebra (LSTV)
To help them understand and describe exactly how the wings of the L5 vertebra (i.e., the transverse process) is connected to the sacrum, doctors use a classification system. This system simply organizes the LSTV into different "types" based on what the connection looks like; for example, whether it's an enlarged transverse process (the wings of the vertebra) on one side or a complete fusion on both. This helps doctors communicate clearly about a patient's specific anatomy.
Most people have five lumbar vertebrae (L1-L5). However, some individuals are born with six. This happens when the first part of the sacrum doesn't fuse with the rest of the bone, creating an "extra" mobile segment. This variation, also known as lumbarization. In this instance, it is one or both of the transverse process of the L6 vertebra that forms a false joint (pseudo-articulation) or fuses with with the sacrum.
Congenital conditions associated with Bertolotti’s Syndrome
Several congenital conditions (i.e., conditions that are present from birth) have been observed in patients diagnosed with Bertolotti’s Syndrome. Based on currently available literature, the co-incidence of these congenital conditions and BSy is purely correlative; neither causative links nor commonalities in the genetic changes leading to these conditions has been found.
Hypermobility Ehlers-Danlos Syndrome
hEDS is a rare heritable tissue disorder that causes general joint hypermobility. It is the most common type of EDS, accounting for about 90% of cases.
Some patients with hEDS have also been shown to have Craniocervial Instability (CCI) and Thoracic Outlet Syndrome. Depending on the severity of these conditions, additional corrective surgery may be required.
The specific genes that cause hEDS have not been identified. As such, there is no laboratory test that can definitively identify patients with hEDS.
There is a high bar for diagnosis of hEDS. This is outlined in detail on the The Ehlers-Danlos Society website
Spina Bifida Occulta
Spina bifida is a rare congenital disorder where the spine develops abnormally during fetal development.
Spina bifida occulta is a mild version of this condition where a gap is present between the vertebrae of the spine.
This condition can be diagnosed in adults using X-Ray, MRI, or CT imaging.
Further information on this condition can be found in detail on the Cleveland Clinic website.
Extra L6 vertebra
Normally, individuals have 5 lumbar segments (top). In some people, there is an extra lumbar segment (bottom).
Cervical stenosis
Cervical stenosis is caused by the narrowing of the spinal canal in the cervical spine (i.e., the neck area)
Cervical stenosis can be congenital (i.e., present from birth) or acquired (degenerative changes after birth.
This condition can be diagnosed in adults using X-Ray, MRI, or CT imaging.
Further information on this condition can be found in detail on the Cleveland Clinic website.
