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Onyiuke Grading Scale: A clinical classification system for the diagnosis


and management of Bertolotti Syndrome

Joshua Knopf BS Subin Lee BS Ketan Bulsara MD MBA Isaac


Moss MD David Choi MD Hilary Onyiuke MD

PII: S0028-3770(21)00154-5
DOI: https://doi.org/doi:10.1016/j.neuchi.2021.05.002
Reference: NEUCHI 1259

To appear in: Neurochirurgie

Received Date: 13 October 2020


Revised Date: 29 March 2021
Accepted Date: 9 May 2021

Please cite this article as: Knopf J, Lee S, Bulsara K, Moss I, Choi D, Onyiuke H, Onyiuke
Grading Scale: A clinical classification system for the diagnosis and management of Bertolotti
Syndrome, Neurochirurgie (2021), doi: https://doi.org/10.1016/j.neuchi.2021.05.002

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© 2020 Published by Elsevier.


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Onyiuke Grading Scale: A clinical classification system for the diagnosis and management
of Bertolotti Syndrome

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Joshua Knopf*b, BS; Subin Lee*b, BS; Ketan Bulsaraa, MD MBA; Isaac Mossc, MD; David
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Choia, MD; Hilary Onyiukea, MD

a
Department of Neurosurgery, UConn Health, Farmington, CT, USA
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b
University of Connecticut School of Medicine, Farmington, CT, USA
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c
Department of Orthopedic Surgery, UConn Health, Farmington, CT, USA

*These authors contributed equally to this work.


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Financial support and sponsorship: None


Conflicts of Interest: None

Corresponding Author: Joshua Knopf


Address: 263 Farmington Avenue, Farmington, CT 06030-8073, USA
Email: knopf@uchc.edu

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Abstract

Background:
Lumbosacral transitional vertebrae (LSTV) is a common anatomic variant of the spine,
characterized by the formation of a pseudoarticulation between the transverse process of the
lumbar vertebrae and sacrum or ilium. LSTVs have been implicated as a potential source of low
back pain – dubbed Bertolotti Syndrome. Traditionally, LSTVs have only been subdivided into
types I-IV based on the Castellvi radiographic classification system.
Objective:

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Solely identifying the type of LSTV radiographically provides no clinical relevance to the

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treatment of Bertolotti Syndrome. Here, we seek to analyze such patients and identify a clinical
grading scale and diagnostic-therapeutic algorithm to optimize care for patients with this

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congenital anomaly.
Methods:
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Patients presenting with back pain between 2011 and 2018 attributable to a lumbosacral
transitional vertebra were identified retrospectively. Data was collected from these patients’
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charts regarding demographic information, clinical presentation, diagnostic imaging, treatment
and outcomes. Based on evaluation of these cases and review of the literature, a diagnostic-
therapeutic algorithm is proposed.
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Results:
Based on our experiences evaluating and treating these patients and review of the existing
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literature, we propose a clinical classification system for Bertolotti Syndrome: we proposed a 4-


grade scale for patients with Bertolotti syndrome based upon location, severity, and
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characteristics of pain experienced due to LSTVs.


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Conclusion:
Based on our experience with the cases illustrated here, we recommend managing
patients with LSTV based on our diagnostic -therapeutic algorithm. Moving forward, a larger
prospective study with a larger patient cohort is needed to further validate the treatment
paradigm.

Keywords:
Spine, Low back pain, Transitional vertebrae, Bertolotti Syndrome, LSTV

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Échelle de notation Onyiuke : Un système de classification clinique pour le diagnostic et la
gestion du Syndrome de Bertolotti

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Hilary Onyiukea, MD; Subin Lee*b, BS; Ketan Bulsaraa, MD MBA; Isaac Mossc, MD; David

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Choia, MD; Joshua Knopf*b, BS
a
Département de Neurochirurgie, UConn Health, Farmington, CT, USA

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b
University of Connecticut Ecole de Médecine, Farmington, CT, USA
c
Département de Chirurgie Orthopédique, UConn Health, Farmington, CT, USA
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*Ces auteurs ont participé à ce travail à part égale.
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Soutien financier et parrainage: Aucun


Conflits d'intérêts: Aucun

Auteur correspondant: Joshua Knopf


Adresse: 263 Farmington Avenue, Farmington, CT 06030-8073, USA
Email: knopf@uchc.edu

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Abstrait
Contexte:
Les vertèbres transitionnelles lombo-sacrées (LSTV) sont une variante anatomique courante
de la colonne vertébrale, caractérisée par la formation d'une pseudo-articulation entre le
processus transverse des vertèbres lombaires et le sacrum ou l'ilium. Les LSTV ont été impliqués
comme une source potentielle de lombalgie - le syndrome de Bertolotti. Traditionnellement, les
LSTV étaient uniquement subdivisés en types I-IV sur la base du système de classification
radiographique de Castellvi.

Objectif:
La seule identification radiographique du type de LSTV n'apporte aucune pertinence
clinique au traitement du syndrome de Bertolotti. Ici, nous cherchons à analyser ces patients et à

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identifier une échelle de notation clinique et un algorithme diagnostique-thérapeutique pour

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optimiser les soins aux patients atteints de cette anomalie congénitale.

Méthodes:

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Les patients présentant des maux de dos entre 2011 et 2018 attribuables à une vertèbre
transitionnelle lombo-sacrée ont été identifiés rétrospectivement. Des données ont été recueillies
à partir des dossiers de ces patients concernant les informations démographiques, la présentation
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clinique, l'imagerie diagnostique, le traitement et les résultats. Sur la base de l'évaluation de ces
cas et de la revue de la littérature, un algorithme diagnostique-thérapeutique est proposé.
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Résultats:

Sur la base de nos expériences d'évaluation et de traitement de ces patients et de la revue


de la littérature existante, nous proposons un système de classification clinique du syndrome de
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Bertolotti: nous avons proposé une échelle à 4 degrés pour les patients atteints du syndrome de
Bertolotti en fonction de la localisation, de la gravité et des caractéristiques de la douleur
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ressentie en raison de aux LSTV.

Conclusion:
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Sur la base de notre expérience avec les cas illustrés ici, nous recommandons de gérer les
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patients atteints de LSTV sur la base de notre algorithme diagnostique-thérapeutique. À l'avenir,


une étude prospective plus large avec une cohorte de patients plus importante est nécessaire pour
valider davantage le paradigme du traitement.

Mots clés:
Colonne vertébrale, Lombalgie, Vertèbres transitionnelles, Syndrome de Bertolotti, LSTV

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Introduction
Lumbosacral transitional vertebrae (LSTV) are congenital spinal anomalies defined by
morphologic characteristics that are intermediate between lumbar and sacral vertebrae. These
vertebrae have enlarged transverse processes that either partially or completely fuse with the
sacrum or ilium, resulting in a sacralization of the most caudal lumbar vertebrae or a
lumbarization of the most cranial sacral vertebrae.1,2 In addition, it has been proposed that the
incomplete articulation of the pathologic joint can precipitate stress-induced arthritic changes,
leading to symptoms of pain.3,4 Cases of lumbosacral transitional vertebra first appeared in the

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literature in 1917 when Mario Bertolotti made the association between this structural

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phenomenon and low back pain.5 Since its initial description, LSTVs have been increasingly
recognized as a common congenital anomaly.6,7

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Figure 1. Castellvi radiographic classification system.1
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In 1984, Castellvi et al. proposed a radiographic classification system that identifies four
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types of LSTVs based upon various fusion patterns between the transverse process of the
anomalous vertebra and the sacrum or ilium (Figure 1).6,8 This classification system has been
useful in detecting transverse vertebrae radiographically, but does not hold any information
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about the specific cause of pain in a patient with a transverse vertebra. No consensus has been
made regarding any clinical evaluation or treatment of Bertolotti’s Syndrome.
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Here, we present eight cases of Bertolotti’s syndrome and discuss the diagnostic
evaluation, treatment approach, and outcomes of treatment. Based on a comprehensive literature
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search, coupled with the authors’ experience, we propose a new clinical grading system and
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therapeutic algorithm for the management of patients with symptomatic lumbosacral transitional
vertebrae.

Case Discussion
Table 1. Summarized case details for patients described below, including our proposed
Grading system for Bertolotti Syndrome.
CASE 1:
39-year-old woman with pre-existing history of cervical spondylosis presenting with recurrent

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low back pain following a L3-L5 lumbar fusion 6 months prior with resolution of symptoms.
Imaging studies at the time demonstrated symptomatic lumbar stenosis, as well as lumbarization
of S1 (Figure 2, labeled L1-L6). Additional study of CT scan of the lumbar spine showed a type
IIa LSTV, and a properly healed fusion (Figure 2). A diagnosis of symptomatic Bertolotti
Syndrome was made, and nonoperative management of intra-articular injections resulted in
initial improvement with subsequent recurrence. Patient then underwent an instrumented bony
fusion of the anomalous vertebrae in 2015, with continued relief of back pain at 3 years follow-
up.

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CASE 2:
34-year-old male presented with severe low back pain with right lumbar radiculopathy
syndrome. Non-operative management including activity modification, use of assistive device

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and pharmacological treatment. A CT scan demonstrated a type IIa Castellvi malformation at
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both S1 and L5 level (Figure 3). Patient was subsequently lost to follow-up, returned and is
currently undergoing spinal injections, which did not provide long-lasting relief. He is currently
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awaiting surgical intervention.

CASE 3:
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20-year-old female collegiate softball pitcher presenting with several years of progressively
worsening low back pain, resulting in discontinuation from her sport. Patient was treated with
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nonsteroidal anti-inflammatory medication. A CT scan of the lumbar spine demonstrated


transitional hemivertebrae with pseudoarticulation of the left L5 transverse process with the
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sacrum, consistent with a type IIa LSTV (Figure 4). She was diagnosed with Bertolotti’s
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syndrome and treatment options were discussed. The patient elected to undergo spinal injection,
with resolution of her pain at 2-month follow-up.

CASE 4:
42-year-old male presenting with left-sided lumbar radiculopathy syndrome when sitting.
Imaging revealed a type IIIa Castellvi malformation of the left transverse process of L5
vertebrae. The patient underwent two lumbar spinal injections, providing temporary relief.
Surgical options were discussed, including resection of the pseudo-articulation of L5 transverse

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process or a fusion. The patient elected to proceed with the former. After surgery, he remains
symptomatic without any significant improvement of symptoms and is currently being managed
conservatively with physical therapy and the use of gabapentin (Figure 5). He declined
arthrodesis.

CASE 5:
51-year-old woman with history of progressively severe low back pain with radiation down her
legs. CT scanof the lumbar spine demonstrated pseudoarticulation of the L5 transverse process

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with S1 on the right side (type IIa Castellvi malformation). She had the initial successful interim

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relief of symptoms following multiple spinal injections, then subsequently elected to undergo 1
level posterior spinal lumbar fusion L5-S1, resulting in complete resolution of her symptoms.

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CASE 6: e-
62-year-old female presenting with intractable lower back pain radiating to the right buttock.
Initial workup revealed what appeared to be symptomatic lumbar spinal stenosis at L3-L4. The
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patient underwent a successful lumbar fusion, however her low back pain persisted. Subsequent
workup with CT scan of the lumbar spine revealed unilateral pseudoarticulation of the right
transverse process of L5 vertebrae, indicating a type IIa LSTV (Figure 6). The patient is
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currently receiving lumbar spinal steroid injections at the L5-S1 level for pain management.
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CASE 7:
61-year-old female with history of symptomatic lumbar isthmic spondylolisthesis presenting
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with low back and left leg pain. Initial management with physical therapy, nonnarcotic
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analgesics, gabapentin provided minimal improvement. Patient declined spinal injections based
on a steroid allergy. X-rays that showed both a grade one spondylolisthesis and a left-sided
LSTV (type IIIa Castellvi) at the L5-S1 level. The patient elected to undergo a one level Gill
type laminectomy and instrumented fusion at L5-S1. Patient is currently asymptomatic at 2-year
follow-up.

CASE 8:

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55-year-old woman presenting with a one year history of severe low back pain, without
radiculopathy and associated with a work-related injury. Physical therapy and NSAIDs failed to
alleviate her pain. On examination, patient demonstrated significant low back paravertebral
muscle spasm with extension tenderness. X-rays of the lumbar spine show a right-sided L5
transverse process pseudoarticulation with the sacrum, indicating a Castellvi IIa LSTV. The
patient is currently undergoing lumbar spinal injections injections.

Discussion

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Chronic low back pain affects over 13% of the population in the United States, with the

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prevalence increasing with age.9 Despite this significant clinical burden and high economic cost
associated with the condition, the majority of the cases of low back pain are nonspecific and
often correlates poorly with the pathology present on imaging.9,10 Nevertheless, in some cases,

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the symptoms are associated with specific structural changes. A lumbosacral transitional vertebra
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is an easily-missed but noteworthy phenomenon that can contribute to low back pain, especially
in younger patients in their 30-40s with the prevalence estimated between 5-30% within the
general population.3,6,7,11
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The specific source of the low back pain in patients with Bertolotti’s syndrome has not yet
been identified. However, prior research suggests four possible causes: (1) hypermobility above
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the transitional vertebra, resulting in disc protrusion or extrusion above the transitional vertebra;
(2) degenerative changes to the pseudoarticulation; (3) facet joint arthrosis on the contralateral
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side from asymmetric biomechanical loading; or (4) extra foraminal stenosis of the nerve roots at
the site of articulation between LSTV and the sacrum/ileum.2,8,14 Despite the fairly high
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prevalence of this condition among the general population, Bertolotti’s syndrome remains a
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poorly recognized phenomenon, and many physicians fail to include it in their differential
diagnosis for patients presenting with low back pain. This inconsistency likely results from a
number of challenges. Radiologic identification of LSTV can be difficult due to the wide
anatomic variations and insufficient correlation with the clinical picture. In addition, the lack of a
uniform diagnostic and treatment approach to patients with Bertolotti’s syndrome has made
efforts for a timely and accurate diagnosis slow and somewhat unsuccessful. As a result,
although LSTV is a common congenital anomaly, diagnosis is often delayed or missed all
together, even amongst the young.13,14,16

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Currently, initial treatment for Bertolotti’s syndrome is conservative, with a combination
of nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy.2,14,16 Epidural steroid
injections carry both therapeutic and diagnostic value; however, this relief is often only
temporary.6,17,18
Of the few reports discussing treatment options for Bertolotti’s syndrome, the two most
commonly performed surgical techniques were either fusion of the transitional vertebrae or
resection of the pseudoarticulating transverse process. Previous case reports and larger studies
have demonstrated that either intervention can result in an improvement in back pain. However,

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the superiority of either one is difficult to ascertain given the limited number of patients studied

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or lack of direct comparison.14,19-23,27,28
Nevertheless, fusion surgery has a few important advantages. It is associated with shorter
operation time, reduced complication rates such as operative blood loss, and lower hospital stay

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when compared to resection. In addition, the idea behind a fusion is to provide stability to the
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spine and thus has been indicated for a number of degenerative spine conditions such as
degenerative scoliosis and spondylolithesis.25,26 On the other hand, the biomechanics of resecting
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the anomalous transverse process leads to mobilizing a segment of spine that was previously
relatively immobile and may result in continued or an increase in pain. Along this same line, we
found a markedly better response in patients who underwent fusion. In comparison, patient 4
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who underwent resection of the transverse process of the transitional vertebrae still had
significant back pain after the procedure. In the regard, we believe that correction of the
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pseudoarticulation in LSTV with spinal fusion will result in a more favorable biomechanical
change than a resection which could destabilize a previously immobile joint.
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Table 2. Onyiuke clinical classification grading scale for Bertolotti’s Syndrome

In order to facilitate timely recognition of this phenomenon and ensure optimal treatment,
we propose our grading system for the management of Bertolotti’s syndrome (Table 2). Our
proposed grading situates patients within the context of their symptoms of disease, rather than by
their radiographic findings. This focus on clinical symptomatology helps classify the extent of
true disease, regardless of the anomalies that are present. Classifying Bertolotti’s Syndrome
refocuses the emphasis of care on the symptoms beyond the anomaly itself.

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In addition to the clinical grading system, we also present a clinical management scheme
that takes into account our personal experiences treating patients with Bertolotti’s syndrome on
top of the existing literature (Figure 7). Once a patient is identified as having a lumbosacral
transitional vertebrae, proper history and examination should occur to assess the patient’s current
symptoms. If the patient is asymptomatic, no treatment is needed. For patients with symptoms of
back pain, conservative management is recommended as initial treatment. If the symptoms
persist, a regional anesthetic block should be considered, with repeated doses given to maintain
adequate pain relief. If the injections do not help, surgical intervention then becomes necessary.

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Figure 7. Proposed diagnostic-therapeutic algorithm for evaluation and treatment patients with
of Bertolotti’s syndrome

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Conclusion e-
Lumbosacral transverse vertebrae is a relatively unrecognized phenomenon despite the
prevalence of the condition (ranging between 5-30%) and possible source of significant low back
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pain. While the majority of the patients in this report presented with anomalous transverse
processes that fit the radiographic Castellvi classification system, one stands out in particular as
having a multilevel involvement that has never been described previously. Therefore, we propose
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a reclassification of the traditional grading scheme with a focus on the clinical aspects of the
condition. Based on our experience with the cases illustrated here, we recommend managing
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patients with LSTV based on our diagnostic-therapeutic algorithm. Moving forward, a larger
prospective study is needed to further validate the treatment paradigm.
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Appendix A. Case-related Imaging

Figure 2. Axial view of case 1 CT scan showing Castellvi type II pseudoarticulation between L5
and S1 on right.

Figure 3. Axial view of case 2 CT scan showing Castellvi type II pseudoarticulation between L4
and L5 on right and type II pseudoarticulation between L5 and S1 on left.

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Figure 4. CT scan of left Castellvi type IIa pseudoarticulation between L5 and sacrum

Figure 5. Axial views CT scans demonstrating Castellvi type IIIa transverse vertebrae on left
before surgery (a) and after surgical resection (b). (C) Three-dimensional reconstruction of
computed tomography post-resection.

Figure 6. AP X-ray of right Castellvi type IIa pseudoarticulation between L5 and sacrum.

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Compliance with Ethical Standards
Conflict of interest: All authors report no conflict of interest.
Ethical approval: This article does not contain any studies with human participants performed by

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any of the authors. e-
Patients did not require consent as we used de-identified imaging as well as de-identified patient
information in the construction of the case review.
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*Proposed
Ag Relevant Onyiuke
Patient ID e Sex PMH Presenting Symptoms Imaging Findings Treatement Course Grade Current Status
Failed conserviative
Lumbarization of treatment, failed
S1 with R sided epidural steroid
Degenerative Slowly progressive Flexion/Extensio pseudoarticulatio injection. Underwent Complete
disc disease, back pain, right sided n X-Rays, CT n; DJD L3/L4 fusion of anomalous resolution of

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1 39 F cervical spine radiculopathy lumbar spine and L4/L5 vertebrae Grade IVa symptoms

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L5
pseudoarticulatio
Flexion/Extensio n with the S1
n X-Rays, CT vertebrae; S1 Underwent lumbar

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Bilateral radiculopathy; scan of lumbar partial epidural injections, Awaiting surgical
2 34 M None left worse than right spine lumbarization lost to follow up Grade IIIb intervention
L5

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pseudoarticulatio
n with S1 on left Doing well with
Low back pain without side, no other Epidural steroid epidural injections

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3 20 F None radiculopathy CT lumbar spine findings injections Grade IIa every 3-4 months
Surgery did not
improve his pain,
currently
l managing with
na
Lower back pain with Left sided L5 pharmacologic
radiculopathy to left pseudoarticulatio Resection of left L5 and physical
4 42 M None buttock CT lumbar spine n with S1 transverse process Grade IIa therapies
Failed conservative
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treatment and
Cervical L5 left sided epidural injections, Complete
stenosis, s/p Bilateral radiculopathy MRI Lumbar pseudoarticualtio ultimately underwent resolution of
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5 51 F C4-C7 fusion for 6 months Spine n with S1 L5-S1 fusion Grade IIIa symptoms
R sided radiculopathy Flexion/Extensio Epidural steroid
to buttock, s/p lumbar n X-Rays, CT Stable prior injections into the Good
6 62 F None fusion 2 years prior lumbar spine fusion, left L5 nerve root Grade IIIa improvement in

2
Page 18 of 20
Sacralization of symptoms with
L5 on S1 injections

f
lumbar Failed conservative

oo
isthmic Flexion/Extensio Left sided treatment, elected to Complete
spondylolisthe Radiculopathy n X-Rays, CT lumbarization of undergo spinal resolution of
7 61 F sis including left leg lumbar spine S1 fusion L5-S1 Grade IIIa symptoms
L5

pr
Flexion/Extensio pseudoarticulatio
Back pain without n X-Rays, CT n with S1 Good benefit from
8 55 F None radiculopathy lumbar spine bilaterally Steroid injections Grade Iia injections

e-
l Pr
na
ur
Jo

3
Page 19 of 20
f
Clinical Classification: Onyiuke Grading Scale

oo
Grade a b

pr
e-
Radiographic evidence of single level LSTV with no Radiographic evidence of multiple level LSTV with
Grade I
clinical symptoms no clinical symptoms

Pr
Radiographic evidence of single level LSTV with Radiographic evidence of multiple level LSTV with
Grade II
isolated lower back pain
l isolated lower back pain
na
Radiographic evidence of single level LSTV with lower Radiographic evidence of multiple level LSTV with
ur

Grade III
back pain and radiculopathy lower back pain and radiculopathy
Jo

Radiographic evidence of single level LSTV and other Radiographic evidence of multiple level LSTV and
Grade IV spinal pathology with lower back pain with or without other spinal pathology with lower back pain with or
radiculopathy without radiculopathy

4
Page 20 of 20

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