Bertolotti Syndrome is a diagnosis given to patients experiencing pain caused by the presence of a lumbosacral transitional vertebra (LSTV), which is characterized by enlargement of the L5 transverse process(es), with potential pseudoarticulation or fusion with the sacrum. The Castellvi classification system is commonly utilized to grade LSTVs based on the degree of contact between the L5 transverse process(es) and the sacrum. LSTVs present a diagnostic dilemma to the treating clinician, as they may remain unidentified on plain x-rays and even advanced imaging; additionally, even if the malformation is identified, patients with a LSTV may be asymptomatic or have non-specific symptoms, such as low back pain with or without radicular symptoms. With low back pain being extremely prevalent in the general population, it can be difficult to implicate the LSTV as the source of this pain. Care should be taken however, to exclude Bertolotti Syndrome in patients under 30 years old presenting with persisting low back pain given its congenital origin. If a LSTV is identified, typically with acquisition of a MRI or CT scan of the lumbosacral spine, and there is an absence of a more compelling or obvious source for the patient’s symptoms, a conservative, step-wise management plan is recommended. This may include assessing for improvement in symptoms with injections prior to proceeding with surgical intervention. Additional concerns arise from the biomechanical alterations that a LSTV induces in adjacent spinal levels, predisposing this patient population to a more rapid-onset of adjacent segment disease, raising the question as to the most appropriate surgery (resection of LSTV pseudoarticulation with or without fusion). Post-operative outcome data for patients undergoing surgical treatment is limited in the literature with promising, but variable, results. More large-scale, controlled studies must be performed to gain further insight into the ideal work-up and management of this pathology.
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