Bertolotti syndrome is a condition that causes back pain due to a lumbosacral transitional vertebra (LSTV). This congenital anomaly leads to an abnormal articulation of the L5 vertebra with the sacrum, which can alter the mechanics of the spine and cause pain and other complications.

Etiology

The exact cause of Bertolotti syndrome is not fully understood, but a multifactorial genesis is suspected. Genetic factors, particularly mutations in HOX genes, as well as biomechanical influences on the lumbosacral transition play a role[^1].

Epidemiology

Lumbosacral transitional vertebrae occur in 4–30% of the population, but only a small proportion (4–8%) develop Bertolotti syndrome with pain. Pain associated with LSTV occurs more frequently in men. The sacralization of L5 is more common in men, while the lumbarization of the sacrum and additional articulations are more common in women[^1].

Pathophysiology

The abnormal articulation of the LSTV leads to altered weight distribution and reduced mobility of the spine. This can lead to the following problems[^1]:

Underdeveloped iliolumbar ligaments on the affected side.
Increased load on adjacent vertebral segments, which can promote slipped discs, facet joint degeneration, and spinal stenosis.

Treatment

Conservative Treatment

The conservative treatment options for Bertolotti syndrome include the following therapies[^1]:

Physical therapy: Strengthening of the core muscles, improving spinal mobility and reducing pain.
Injections: Corticosteroid injections into the abnormal articulation (under fluoroscopic control) for pain reduction and diagnosis.

Surgical Treatment

If conservative therapy fails, the following surgical treatment approaches can be evaluated:

Resection of the enlarged transverse process.
Fusion in case of instability.
Decompression surgery for spinal stenosis.

Bertolotti Syndrome