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The Spine Journal 21 (2021) 1286−1296

Narrative Review
Clinical assessment and management of Bertolotti
Syndrome: a review of the literature
Kyle McGrath, BSa,*, Eric Schmidt, MDa, Nicholas Rabah, BSb,
Mohammad Abubakrc, Michael Steinmetz, MDa
a
Center for Spine Health, Department of Neurosurgery, Neurologic Institute, Cleveland Clinic Foundation,
Cleveland, OH, USA
b
Case Western Reserve College of Medicine, Cleveland, OH, USA
c
The Ohio State University, Columbus, OH, USA
Received 6 November 2020; revised 10 February 2021; accepted 27 February 2021

Abstract 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 trans-
verse process(es), with potential pseudoarticulation or fusion with the sacrum. The Castellvi classi-
fication 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 clini-
cian, 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 nonspe-
cific 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 iden-
tified, 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). Postoperative
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. © 2021 Elsevier Inc. All rights
reserved.

Keywords: Bertolotti Syndrome; Lumbosacral Transitional Vertebra; Pseudoarticulation; Lumbarization; Sacralization

Introduction
Bertolotti Syndrome (BS) is a clinical diagnosis given to
FDA device/drug status: Not applicable. patients who experience pain due to a lumbosacral transi-
Author disclosures: KMG: Nothing to disclose. ES: Nothing to disclose. tional vertebra (LSTV). LSTVs are congenital vertebral
NR: Nothing to disclose. MA: Nothing to disclose. MS: Royalties: Zimmer anomalies in which elongated fifth lumbar (L5) transverse
(B), Elsevier (B); Consulting: Globus (A); Speaking and/or teaching
process(es) (TP) articulate or fuse to the first sacral segment
arrangements: Stryker (B), Globus (B).
Funding disclosures: No financial support of any kind was received for (S1). This transitional vertebra is described as forming
this study. through either the process of sacralization of the L5 verte-
*Corresponding author. Center for Spine Health, Department of Neuro- bra or a lumbarization of the S1 segment [1]. The literature
surgery, Neurologic Institute, Cleveland Clinic Foundation, 9500 Euclid surrounding this condition is relatively limited. There are
Ave, Suite S40 Cleveland, OH. Tel.: (419) 310-9755.
numerous studies discussing the prevalence, diagnosis, and
E-mail address: kb725416@ohio.edu (K. McGrath).

https://doi.org/10.1016/j.spinee.2021.02.023
1529-9430/© 2021 Elsevier Inc. All rights reserved.
K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296 1287

management of LSTVs, however many of these studies


present inconclusive results emphasizing the need for fur-
ther research across the board to aid in the understanding of
LSTVs and how they affect patients. Herein we will discuss
the literature as it pertains to LSTVs, specifically focusing
on how patients with Bertolotti Syndrome are diagnosed
and managed.

Methods
PubMed, Google Scholar, and the Journal of Neurosur-
gery were searched using the key words: Bertolotti, LSTV,
Lumbosacral Transitional Vertebra. References of the
resulting papers were scanned for additional literature that Fig. 1. Castellvi Type II: L5 TP forming a pseudoarticulation with
was not found in the initial literature search. the sacral ala. A) Castellvi Type IIa (unilateral), B) Castellvi Type IIb
(bilateral).
Classifying LSTVs
The modern classification of LSTVs was introduced in proposed that the anatomic development of the sacrum and
1984 by Castellvi et al. Each Type (I − IV) is additionally lumbosacral spine may be greatly influenced by mechanical
labeled with an “a” (unilateral) or “b” (bilateral). Type I loading at the sacroiliac (SI) junction. Cadaveric studies
refers to either unilateral (Ia) or bilateral (Ib) enlargement have demonstrated distinct anatomic variants in patients
of the L5 TP(s), measuring >19 mm in width. Type II refers with LSTVs apart from the LSTV itself. These include
to incomplete sacralization (of L5) or incomplete lumbari- sacra that are significantly shorter in height (excluding the
zation (of S1) in addition to an enlarged TP that forms a height of the L5 body) than normal [5] and a reduction in
“pseudoarticulation” with the sacral ala (IIa or IIb). (Fig. 1) the caliber of the iliolumbar ligaments in these patients [6].
A Type III classification indicates complete fusion between A reduction in sacral height can significantly decrease the
the TP and ala (as compared the pseudoarticulation seen in contact surface area between the sacrum and ilium. This
type II), with complete sacralization of L5 or lumbarization can be problematic due to the role that the SI joint has in
of S1. Type IV refers to having a Type IIa on one side, and ambulatory load transmission. It is suggested that L5 sacral-
a Type IIIa on the contralateral side (Table 1) [2]. ization may occur in some cases to compensate for this
Among Castellvi classifications, Type Ia is the most decrease in SI joint surface area seen in some LSTVs. The
common, with Types I and II each accounting for approxi- reduction in iliolumbar ligament caliber seen in these
mately 40% of all LSTVs occurrence. Type Ia, while pres- patients may occur developmentally as a result of decreased
ent in as much as 14% of the general population, rarely lumbosacral motion caused by the pseudoarticulation or
requires clinical intervention. Types II, III, and IV are less fusion at the LSTV. A reduction in motion at the LSTV
common than type I albeit more likely to cause pain war- with the concomitant weakening of the iliolumbar liga-
ranting intervention (Table 2) [3]. ments can both contribute to adjacent segment instability
Further subclassification of LSTVs based on S1-S2 disc that these patients are predisposed to experience.
morphology and the extent of lumbarization of the S1 seg- Unilateral LSTVs cause the most notable discrepancies
ment was described by O’Driscoll et al. This classification in loading throughout the spine, resulting in an oblique pel-
system is described as such: Type I refers to an absence of vic alignment and scoliosis. This perpetuates further load-
any disc material present, as seen in normal sacral spines. ing discrepancies resulting in unilateral degenerative
Type II refers to the presence of a small residual disc not changes of the facet and disc, increased intradiscal pres-
extending full AP diameter of the sacrum, which is also sures, and hypermobility and abnormal torque moments
seen more commonly seen in those without an LSTV. Type above the transitional segment [6−11]. This asymmetric
III describes a well-formed disc extending the full AP diam- loading and adjacent segment hypermobility has been
eter of the sacrum. Type IV describes a Type III class with implicated in the increased incidence of adjacent segment
an abnormal upper sacral outline referred to as “squaring” disease in Bertolotti patients, which has been demonstrated
seen on sagittal imaging. Among these classifications, there in numerous studies. Overall, LSTVs are less likely to show
has been an identified correlation between Type IV S1-S2 degenerative changes than control patients at L5-S1; how-
discs and high (III, VI) Castellvi classification types [4]. ever, degenerative changes in the superjacent segments to
the LSTV occur at significantly higher rates than the same
level in patients without an LSTV. These findings were best
Biomechanical considerations
documented by Vergauwen et al. who studied 350 patients
There is a paucity of data regarding the biomechanical with lumbar back pain, reporting the rate of degenerative
implications of LSTVs on overall spine health. It has been changes present in patients with and without LSTVs. These
1288 K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296

Table 1
Castellvi classification of lumbosacral transitional vertebrae (LSTV)

Type Description Unilateral (a) Bilateral (b)


Type I Enlarged L5 transverse
process(es) (TP) either
unilaterally (Ia) or bilat-
erally (Ib).

Type II Incomplete sacraliza-


tion (of L5) or incom-
plete lumbarization (of
S1) in addition to an
enlarged TP that forms
a “pseudoarticulation”
with the sacral ala. (IIa
or IIb)
Type III The pseudoarticulation
between the TP and ala,
as seen in type II, how-
ever in this case the
sacralization or lumba-
rization is considered
complete with the L5 or
S1 segment, respec-
tively. (IIIa or IIIb)
Type IV Unilateral Type IIa on
one side with a Type
IIIa on the contralateral
side of the same LSTV.

Castellvi, A. E., Goldstein, L. A., & Chan, D. P. (1984). Lumbosacral transitional vertebrae and their relationship with lumbar Extradural defects. Spine, 9
(5), 493-495. doi:10.1097/00007632-198407000-00014
Art reprinted with permission from Jancuska JM et al. A review of symptomatic lumbosacral transitional vertebrae: Bertolotti’s syndrome. Int J Spine
Surg. 2015;9:42. (c) 2020 International Society for the Advancement of Spine Surgery.

included protrusion/extrusion (45.3% incidence in level Additional anatomic changes seen in lumbar sacrali-
superior to LSTV vs. 30.3% in patients without LSTV), zation are a reduction in height of the pedicle and pars
disc degeneration (52.8% vs. 28%), facet degeneration interarticularis (pars), as well as a reduction in the width
(60.4% vs 42.6%), and nerve root canal stenosis (52.8% vs of lamina. In theory, a smaller pars may predispose
27.9%) (Table 3). These issues, when present in patients these patients to isthmic spondylolisthesis, however
with an LSTV, are significantly more likely to occur at the studies to date have only shown an increase in severity
most caudal mobile segment adjacent to the LSTV, with
degenerative disc disease at the level of the LSTV being
exceedingly rare [12−16]. Table 3
Adjacent segment degeneration in LSTV

Table 2 Degenerative Incidence in level Incidence in same


Prevalence of LSTV Castellvi type and associated low back pain Pathology superior to LSTV level among control
(ie, L4-L5) patients (no LSTV)
Castellvi Type Prevalence Prevalence of reported
among LSTVs low back pain Disc Protrusion/ 45.3% 30.3%
Extrusion
Type I 41.72% 46% Disc Degeneration 52.8% 28.0%
Type II 41.40% 73% Facet Degeneration 60.4% 42.6%
Type III 11.50% 40% Foraminal Stenosis 52.8% 27.9%
Type IV 5.20% 66%
Vergauwen S, Parizel PM, van Breusegem L, et al. Distribution and
Nardo L, Alizai H, Virayavanich W, et al. Lumbosacral transitional incidence of degenerative spine changes in patients with a lumbo-sacral
vertebrae: Association with low back pain. Radiology. 2012;265(2):497- transitional vertebra. European Spine Journal. Published online 1997.
503. doi:10.1148/radiol.12112747. doi:10.1007/BF01301431.
K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296 1289

of spondylolisthesis in LSTV patients compared to spon- low back pain (LBP) that limits range of motion. It has
dylolisthesis without an LSTV, without any increase in been proposed that the primary source of this back pain is
incidence [17−19]. mechanical, resulting from the bony contact of the pseu-
More recently, a biomechanical study was done by Golu- doarticulation between L5 and S1, however the source of
bovsky et al. in which Type IIa LSTV pseudoarticulating pain in these patients and their response to localized treat-
joints were 3D printed and fixated to normal cadaveric ment varies between individuals [25].
spines. This study is the first of its kind attempting to Due to the congenital nature of LSTVs, these patients
develop a more comprehensive biomechanical model of may present to a physician for low back pain (LBP) at a
LSTVs. They found that Type IIa, while not a fusion much younger age compared to patients suffering other
between L5 and S1, still causes a significant reduction in causes of chronic low back. Therefore, LBP in younger
axial rotation and lateral side bending at the transitional populations, particularly males under the age of 30, is dis-
level, while increasing torque and motion above the LSTV. proportionately due to the presence of an LSTV rather than
Additional studies have confirmed these findings through other causes of chronic LBP. Quinlan et al. studied MRI
biomechanical analysis and imaging, suggesting that scans of 769 consecutive patients with low back pain and
this chronic increase in motion can be a cause of the fre- found that 11.4% of people under the age of 30 had an
quent adjacent segment degeneration seen in Bertolotti LSTV, with an average age of those with an LSTV being
patients [9−11]. 32.5 years [26]. Another study done by Kapetanakas et al.
The biomechanical implications that have been dis- found that 4%-8% of patients with LBP had diagnosable
cussed with LSTVs should be given consideration in assess- Bertolotti Syndrome, with 18.5% of these patients being
ing sources of pain. Sources of pain in these patients can all under the age of 30 [22]. We will discuss in more detail the
be attributed in part to discrepancies in spine motion and relationship between LSTVs and LBP, but it is important to
loading. It is known that patients with abnormal spinal cur- understand that LSTVs affect the younger population at a
vature have asymmetric loading and wear on the facet significant rate.
joints, which can contribute to degenerative changes at the With LBP being the most common presenting symptom
pseudoarticulation as well as in segments adjacent to the in Bertolotti patients, identifying this disease based on pre-
LSTV [20]. In addition to abnormal curvature incited by an sentation alone can be challenging seeing as up to 80% of
LSTV, the additional articulation acts to stabilize the adults will seek a physician for low back pain at some point
involved segments causing a reduction in motion that would in their lives. It has been reported that the prevalence of
be seen in a normal spine. Available literature regarding LSTVs among patients seeking care for LBP can be as high
adjacent segment disease in LSTV patients demonstrates as 36%. Over the years however, data on LSTVs and LBP
similar pathologies to those without LSTVs who undergo has been controversial. Tini et al. found no significant dif-
lumbar or lumbosacral fusion. These pathologies are largely ference between the prevalence of LSTV in patients pre-
biomechanical in nature, and it is important to understand senting with LBP (6.7% of which had LSTV) and those
these effects on the natural history of LSTV sequelae as it with no LBP (5% incidental LSTV rate). This study deter-
can help guide conversations and expectations from early in mined that while a LSTV is a predictor of LBP, LBP is not
the treatment process [21]. necessarily a predictor of the presence of an LSTV [27].
More recent data however seems to demonstrate that LBP
Clinical significance and LSTVs are more tightly intertwined. It has been dem-
onstrated that among patients presenting with LBP, up to
Prevalence 10% of them may have an unidentified LSTV [28], and up
to 73% of patients with an identified LSTV, particularly
LSTVs have a wide range of estimated prevalence, from
those with Castellvi classes II and IV, experience chronic
4%-35% of the general population with an overall average
LBP. LSTVs have also been shown to increase the severity
of 12.3% [1,2,13,22,23]. Overall, the prevalence of LSTVs
of a patient’s LBP in addition to causing a reduction in
is higher in men than in women, at least twice as common
physical activity [3,29]. Furthermore, Vergauwen et al.
in some studies. Among LSTV morphology, sacralization
determined that patients with spine-related symptoms
of L5 is also more common in men, while accessory L5-S1
severe enough to warrant an MRI are 2.3 times as likely to
articulations and lumbarization of S1 are both more com-
have an LSTV than someone without these symptoms, and
mon in women [3,24].
3.6 times as likely to have a LSTV if presenting with an
adjacent (last mobile segment) disc herniation requiring dis-
Symptomatology
cectomy. What this suggests is that the presence of a LSTV
The clinical picture of a Bertolotti Syndrome is compli- predicts a worse clinical presentation and is more likely to
cated, as these patients may present with no symptoms at be present in patients with symptoms ultimately requiring
all, or a myriad of nonspecific symptoms. Fully asymptom- surgical intervention [12].
atic LSTVs however are relatively rare, as low as 13% [22]. While patients with LSTVs are more likely to experience
Physical exam signs most commonly include nonradiating symptoms, namely chronic LBP, the origin of these
1290 K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296

symptoms seems to be largely patient dependent. Arthritic sequelae while avoiding surgical errors due to inaccurate
changes, disc and facet degeneration, spinal and nerve root numbering [27]. In the case of numbering the lumbosacral
stenosis and adjacent segment pathology have all been cited spine (spine is to be numbered from bottom to top), the low-
in the literature as sources of pain [1,5,12,15,25,28,30,31]. est vertebral body with a rectangular shape is located and
Those with LSTVs may have variations in lumbosacral considered to be that of L5. This can be problematic in the
nerve distribution as well, which can further complicate a case of an LSTV in which this may correspond to a L4 or
patients clinical picture. Using electromyography (EMG), L6 vertebra [28]. Exact numbering is of relatively low
Hinterdorfer et al. compared LSTV to non-LSTV patients importance, whereas consistent numbering among pro-
and showed varying degrees of overlap in S1 and S2 nerve viders along the patient’s continuity of care is the most
distribution in LSTV patients, reinforcing that in addition important aspect to be followed. The following segment
to pain patterns, each patient can have a significantly differ- outlines imaging options and their utility in Bertolotti
ent clinical picture than the next [32]. patients.

Patient burden X-ray


Currently, there exists little data to help physicians iden- Traditional radiographs have well-documented utility in
tify a source of pain in individuals prior to undergoing treat- diagnosing and classifying LSTVs. While more advanced
ment. If a specific treatment provides pain relief or imagery remains available, anteriorposterior (AP) and lat-
resolution, it is then appropriate to retrospectively identify eral films require little time commitment, monetary cost,
the treatment site as a source of pain. Because clinical suc- and radiation exposure to the patient, while also allowing
cess can only be confirmed after enacting a certain treat- for an assessment of the axially-loaded spine. An AP radio-
ment plan, patients are subject to chronic physical, graph with 30˚ of cranial angulation is known as a Ferguson
psychological, and financial burden. The financial cost to radiograph, and is traditionally the standard for successful
patients experiencing LBP varies widely in the literature, identification of LSTVs. Sagittal films can also be useful, as
ranging from approximately $2 billion per year to over this view is helpful in reducing the image height of the tran-
$100 billion per year in the United States depending sitional disc and in identifying “squaring” of the transitional
whether loss of productivity and wages are accounted for segment. Squaring refers to a cranial shift of the spine that
[33−35]. Given the prevalence of LSTVs reported in occurs during lumbarization of the S1 segment and may be
patients with back pain and the heterogeneity in clinical beneficial in identifying LSTVs [23]. Standard radiographs
presentation, these costs reinforce the need to better under- demonstrate 76%-84% sensitivity in identifying LSTVs and
stand the role that LSTVs have in LBP. only 53%-58% accuracy in correctly classifying the Cas-
Without definitive diagnostic and treatment strategies, tellvi type. While Ferguson radiographs of the lumbosacral
Bertolotti patients are also predisposed to more chronic spine have been shown to slightly improve sensitivity, this
symptomatology than those with more well understood level of reproducibility is not ideal in clinical practice
spine pathologies. It has been shown by Golubovsky et al [16,37,38].
that Bertolotti patients undergo significantly more epidural
steroid injections and experience symptoms for a longer MRI/CT
period prior to seeking surgical treatment than age and sex
Higher resolution imaging, although increasing the cost
matched controls with lumbosacral radiculopathy. Berto-
and potential radiation exposure to the patient, provides
lotti patients on average have significantly worse PROMIS
valuable detail in the work up of Bertolotti Syndrome. Both
mental and physical health T-scores than radiculopathy
CT and MRI imaging can more accurately diagnose and
patients after adjusting for the increase in injections and
classify LSTVs than traditional radiographs, while provid-
time from symptom onset. In other words, these patients are
ing additional diagnostic information of adjacent segment,
likely to have a worse mental and physical quality of life
disc, or nerve root pathology. In the literature however,
than patients with lumbosacral radiculopathy. It is reason-
MRI accuracy is more commonly assessed than CT,
able to expect that in conjunction with the financial burden
although CT scans offer the highest fidelity in assessing
these patients experience, experiencing chronic symptom-
bony anatomy and may be the most useful in working up
atology and multiple ineffective treatments can have a sig-
LSTVs. (Fig. 2)
nificant impact on the mental health of these patients [36].
MRI use has shown up to 80% sensitivity in identifying
LSTVs. Among which, T2-Weighted (T2W) coronal
Diagnosing Bertolotti Syndrome
images are the most effective at diagnosing the LSTV in
addition to a concomitant pathology known as “far out”
Imaging
syndrome in which the exiting nerve root is impinged
Reliable imaging is a vital component of the diagnosis between the TP of the last lumbar vertebrae and the sacral
and management of Bertolotti Syndrome, as it allows physi- ala. Sagittal images, however, have been shown to increase
cians to accurately assess the LSTV and its biomechanical the likelihood of misdiagnosis [15,16,37,38].
K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296 1291

on upright X-ray to identify the presence of an LSTV has


not yet been defined in the literature.

Scintigraphy
In addition to standard radiography, CT, and MR, bone
scintigraphy has shown promise in helping physicians iden-
tify possible sources of pain in Bertolotti patients. Anoma-
lous articulation in LSTVs can result in degenerative and
metabolic changes which may be in part responsible for the
patient’s pain. These changes can be detected as increased
uptake in bone scintigraphy, which can complement the tra-
ditional imaging undergone by these patients. Pekindil
et al. evaluated 28 patients with planar and single photon
emission CT (SPECT) bone scintigraphy who were con-
firmed radiographically to have an LSTV. Moderate nonfo-
cal increase in uptake in the upper 33% - 50% of the SI
joint was associated with degenerative changes in either the
SI joint or LSTV pseudoarticulation. In symptomatic
patients with identified degenerative changes, SPECT
imaging showed a markedly increased uptake [41]. Another
study of 48 patients with Bertolotti Syndrome undergoing
skeletal scintigraphy showed an increased uptake at the
Fig. 2. Coronal computed tomography (CT) scan of a Castellvi Type 2a pseudoarticulation in 81% of patients. All patients in the
LSTV. study had Castellvi Type II LSTVs [42]. These studies sug-
gest that positive findings in bone scintigraphy, in addition
to other diagnostic methods like radiography and injections,
can add substantial value in identifying the source of pain in
Bertolotti patients.
Imaging of the iliolumbar ligaments has also been used
to assist with vertebral numbering of LSTV patients. These
EOS
ligaments, although potentially underdeveloped in LSTV
patients, can be seen extending from the L5 TPs to the post- The EOS imaging system is a relatively new method of
eromedial iliac crest. While T2W MRIs are the most effec- radiography that may have significant implications in the
tive at identifying LSTVs, either T1W or T2W MRI can be field of spine biomechanics and understanding Bertolotti
used to identify these ligaments. The aortic bifurcation and Syndrome. EOS is useful in its ability to take standing
right renal artery can also be used to assist in vertebral num- orthogonal images, create 3D reconstructions of skeletal
bering in MRI, although compared to the iliolumbar liga- structures (particularly the spine and pelvis), and to deter-
ments these are believed to have only marginal benefit [39]. mine relationships between anatomical regions and seg-
Magnetic resonance can be of further diagnosis utility of ments [43]. In addition to the technological advancement of
LSTVs when adequate visualization of the transitional seg- the EOS 3D reconstruction capabilities, it offers significant
ment is in question. Chalain et al. determined that LSTVs advantage to both the patient and provider. Studies have
can present with exaggerated lumbar lordosis and a lack of demonstrated up to a 27-fold reduction in radiation entrance
sharp angulations at the lumbosacral junction. Measuring skin dose compared to digital radiography for imaging of
angles on a T2W MRI based on these concepts allows for the whole spine [44]. Furthermore, EOS 2D imaging and
the accurate prediction of the presence of an LSTV. The 3D reconstructions have shown no statistical difference in
complementary angle to the sacral slope (the angle between quality and skeletal detail compared to digital radiography
a line parallel to superior surface of sacrum and line perpen- and 3D CT, respectively [45,46].
dicular to axis of table) of >40˚ predicts the presence of an Currently CT and MRI may be the best imaging tech-
LSTV with 80% sensitivity and specificity. Furthermore, nique for classifying the LSTV, however CT exposes
the angle between a line parallel to the superior endplate of patients to high levels of radiation and is not commonly
L3 and a line parallel to superior surface of sacrum of >36˚ used to identify subacute or chronic spine pathology. Mag-
predicts the presence of an LSTV with 80% sensitivity and netic resonance can be used to classify LSTVs, however the
54% specificity [40]. While the angular measurements dis- cost, time, and margin of error in correctly numbering spi-
cussed are those taken from supine MRI scans, upright X- nal levels have shown that it is also not optimal [38]. EOS
ray films may be a suitable substitute, although the sensitiv- can provide value to LSTV imaging, allowing for 3D recon-
ity and specificity associated with using sacral angulation struction without the radiation of CT and eliminating the
1292 K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296

need for an MRI. The remaining challenge with EOS is the Injections
need for the incorporation of LSTVs into their statistical
Steroid and anesthetic injections have demonstrated
spine models, however future studies may allow EOS imag-
multifaceted benefit in Bertolotti patients, providing pain
ing to add significant value to the diagnosis and manage-
relief in addition to vital diagnostic information. (Fig. 3)
ment of these patients.
Localized injections allow for the identification of primary
pain sources in these patients, which can guide more spe-
cific surgical procedures or prevent them entirely if the pain
Management of Bertolotti Syndrome
resolves. While large outcome studies on the use of injec-
The treatment paradigm of Bertolotti Syndrome is tions in these patients are lacking, several small studies
like that of many causes of chronic LBP. Patients are and case reports have been published demonstrating this
treated conservatively prior to trialing more invasive benefit.
treatment options such as steroid and anesthetic injec- Two case reports of fluoroscopy guided ESIs to the pseu-
tions, and ultimately surgical intervention in the form of doarticulation resulted in a significant improvement in
LSTV (pseudo)articulation resection, decompression, or Oswestry score at 1 month [53], and complete symptom
fusion depending on the patient’s clinical picture. His- (LBP) relief after 12 months [1]. Marks et al. also studied
torically, progressive stepwise courses of treatment have the effect of pseudoarticulation injections on 10 patients.
provided valuable diagnostic information and insight Resolution of pain was experienced in 9 of 10 patients
regarding the primary source of pain. While treatment within 1 week, although 5 patients relapsed to former pain
outcomes have been measured, identifiable sources of level within 12 weeks [31]. Another study assessed 11 Ber-
pain in Bertolotti patients vary in the literature. The suc- tolotti patients with nonradiating LBP receiving local anes-
cess of treatment in these patients has only been thetic injections to the pseudoarticulation, 9 of which
reported retrospectively, with pain resolution being the responded successfully [54]. Avimadje et al. also studied
primary outcome measured. epidural steroid injections (ESI) retrospectively. They iden-
tified 12 patients with unilateral LSTV and ipsilateral LBP
or buttock pain who received injections for their symptoms.
Conservative After one month, 9 patients had pain relief and 7 of 8 were
Patients presenting with chronic LBP with and with- symptom free after 2 years [55]. While some of the larger
out a LSTV often undergo conservative management ini- studies on ESIs have demonstrated considerable benefit for
tially, with NSAIDs, physical therapy (PT) and spine Bertolotti patients, additional smaller studies have shown
manipulation [47]. Some studies have reported chiro- less favorable outcomes. Ultimately the present data on
practic manipulation and PT alone helping patients injections suggests that specific pain sources and response
achieve near or complete resolution of their symptoms. to ESIs in Bertolotti Syndrome may vary widely between
This treatment protocol addresses the biomechanical patients [56−59].
changes in mobility that can be caused by asymmetric With the current literature, there is demonstrable benefit
loading and irregular motion at L5/S1 [48−50]. In addi- in the use of injections, although symptom improvement
tion to PT, exercise regimens involving posture correc- may be transitory. Some patients remained symptom free
tion have documented benefit in the literature as well, through follow up after localized injections, while others
suggesting that posture-modifying exercises can improve had relief for only a short time. Any amount of pain relief
symptoms through improving muscle strength, coordina- following local injections however offers valuable informa-
tion, and flexibility [51,52]. tion in its ability to guide surgical treatment should the
patient’s pain return. In the aforementioned study by Jons-
son et al., the 9 patients who received a reduction or resolu-
tion of pain following local anesthetic injections then
underwent resection of the abnormal pseudoarticulation. Of
these patients, 7 experienced complete resolution of pain
and the remaining 2 had significant improvement at 6−42
months postop, reinforcing the utility of a stepwise treat-
ment protocol [54]. Almeida et al. also demonstrated the
value in this approach. Patients who had improvement in
pain following an anesthetic injection to the mega-apophy-
sis then underwent radiofrequency neurolysis to that site.
Patients who experienced significant improvement then
underwent surgical resection of the mega-apophysis if
Fig. 3. Intraoperative fluoroscopic guided injections of a LSTV pseudoar- their pain returned or did not fully resolve. All patients
ticulation. A) Anteroposterior (AP) view B) Lateral view. who eventually underwent surgical resection remained
K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296 1293

completely asymptomatic thereafter, suggesting that con- pseudoarticulation provided temporary, but complete, pain
servative measures can not only be used as a trial of treat- relief. Although contralateral to the site targeted by the
ment, but they can specifically guide the next, more injection, surgical resection of the pseudoarticulation
invasive steps if necessary [47]. resulted in complete resolution of the pain [30].
Radiofrequency ablation is a minimally invasive tech- Resection of the pseudoarticulation may be of greatest
nique that may also have value in treating Bertolotti benefit to patients with pain originating at the pseudo joint,
patients before employing more invasive surgery such as as it has been shown that the greatest loading forces in the
resection, fusion, or decompression. One patient reported LSTV are experienced at this pseudoarticulating surface in
incomplete resolution of back pain following L4/L5 facet motions such as ipsilateral side bending. Fusion, however,
radiofrequency ablation. A follow up local anesthetic injec- is proposed to be of greater benefit only to patients who are
tion to the posterior pseudoarticulation resulted in tempo- experiencing pain associated with increased motion and
rary complete pain relief. Follow up radiofrequency instability and adjacent segments. In these cases, a fusion
ablation to that area resulted in complete resolution of the procedure would include the unstable segments as well as
patient’s back pain and a return to normal function, suggest- the LSTV, whereas patients without adjacent segment
ing that temporary success with injections may not always degeneration undergoing fusion for an LSTV would likely
necessitate follow-up surgical resection [60]. only receive an L5-S1 fusion. While surgical outcome stud-
ies for patients with LSTVs are sparce, it has been sug-
gested that patients without adjacent segment disease may
Resection and fusion
experience worse outcomes with fusion than resection, as
Surgical management, while reserved for patients who fusion of L5-S1 has been shown to cause more adjacent
ultimately fail more conservative measures or present with segment motion than the LSTV alone, possibly accelerating
signs of instability, typically consists of either unilateral or degenerative processes above the LSTV [11].
bilateral resection of the pseudoarticulation (pseudoarthrec-
tomy), or a fusion of L4-S1 or L5-S1.
Santavirta et al. reported on 16 Bertolotti patients under-
Decompression
going surgical treatment (8 posterior lumbar fusion (PLF)
and 8 resection) and 16 control patients receiving conserva- Studies have shown posterior decompression is an easy,
tive treatment. Between the two surgical groups, postop safe, and useful treatment for spinal stenosis as well as intra
pain and Oswestry Disability Index (ODI) was similar and extraforaminal nerve root compression [66]. When
albeit improved compared to conservative management. At present in Bertolotti patients, central canal and nerve root
a 9 year follow up however, 7/8 fusion patients and 5/8 compression are likely to be symptomatic. For instance,
resection patients had identifiable adjacent segment disc while bone spurs forming at the pseudoarticulation site only
degeneration [61]. Another study reported a Bertolotti occur in approximately 13% of LSTV patients, 70% of
patients undergoing posterior spinal fusion (PSF) with reso- these patients can experience significant symptoms due to
lution of LBP and buttock pain at 1 year follow up [57]. nerve root compression [67]. Spinal stenosis can also cause
The literature present on fusion outcomes in Bertolotti nerve root compression in these patients, however in the
patients is sparse, in part due to the fact that fusion is rarely absence of spondylolisthesis, spinal stenosis is more likely
used to treat Bertolotti Syndrome in the absence of addi- to occur at the level superiorly adjacent to the LSTV [13].
tional degenerative spine pathology. More substantial data Extraforaminal nerve root compression, or “far out syn-
has been gathered on the use of pseudoarthrectomy and drome” as described above, is another unique case that may
decompression in patients with continued symptomatology. benefit from decompression [68].
Case reports of patients undergoing pseudoarticulation Case reports of patients undergoing decompression have
resection (pseudoarthrectomy) demonstrate variable patient yielded promising results, most likely due the presenting
outcomes. One study demonstrated only a 10% improve- symptoms being more definitive in their location of origin
ment in pain at 6 weeks post op [62], while other cases than other presentations of Bertolotti Syndrome (eg, radi-
have demonstrated patients returning to work as early as 1 culopathy following specific dermatomes vs. poorly local-
month post op and sustained improvements in LBP through ized LBP). Several cases of posterior decompression (and 1
the 2-year follow up period [63,64]. Another study by Li case of anterior) have been reported for patients with Berto-
et al. evaluated 7 patients who underwent minimally inva- lotti Syndrome who presented with nerve root related symp-
sive resection of the LSTV joint. In this study, 5 of 7 toms. One patient (anterior decompression of a bone spur)
patients had relief or resolution of their pain, and 3 of 6 reported complete resolution of LBP and leg pain after 1
patients had resolution of their radiculopathy [65]. Further- year [69]. In patients undergoing a posterior decompres-
more, Brault et al. determined that pain in Bertolotti sion, 1 patient reported complete resolution of hip and leg
patients can originate in the facet joint contralateral to the pain at 3 months [56], while another patient reported LBP
pseudoarticulation. In this study, a fluoroscopy guided relief and return to work within the same time frame [70].
injection to the L5-S1 facet contralateral to the side of Treatment of far out syndrome with decompression also has
1294 K. McGrath et al. / The Spine Journal 21 (2021) 1286−1296

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