Bertolotti syndrome is a condition characterized by back pain caused by a lumbosacral transitional vertebra (LSTV). This congenital anomaly results in abnormal articulation of the L5 vertebra with the sacrum, altering the mechanics of the Spine and potentially causing pain and other complications.

Etiology

The exact cause of Bertolotti syndrome has not been fully elucidated; however, a multifactorial etiology is suspected. Genetic factors, particularly mutations in HOX genes, as well as biomechanical influences on the lumbosacral junction, play a role[^1].

Epidemiology

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

Pathophysiology

Abnormal articulation of the LSTV leads to altered weight distribution and restricted mobility of the spine. This may result in the following problems[^1]:

Underdeveloped iliolumbar ligaments on the affected side.
Increased stress on adjacent vertebral segments, which may promote Herniated discs, facet joint degeneration, and Spinal canal stenosis.

Treatment

Conservative treatment

The following therapies are considered conservative treatment options for Bertolotti syndrome[^1]:

Physical therapy: strengthening of the core musculature, improvement of spinal mobility, and pain reduction.
Injections: corticosteroid injections into the abnormal articulation (under fluoroscopic guidance) for pain reduction and diagnostic purposes.

Surgical treatment

If conservative treatment fails, the following surgical approaches may be considered:

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