Bertolotti Syndrome in the Pediatric Population: A Literature Review and Management Algorithm

Abstract

Purpose:

The purpose of this study was to develop a comprehensive step-wise management algorithm for Bertolotti syndrome in the pediatric population by conducting a systematic review of the current literature regarding the diagnostic evaluation, nonsurgical and surgical treatment, and outcomes.

Methods:

A systematic review of the literature was conducted using PubMed to identify studies focused on the management of Bertolotti syndrome in the pediatric population. Data extraction of clinical presentation, management strategies, imaging, and outcomes was completed.

Results:

Thirteen studies reported on 17 patients younger than 18 years with confirmed diagnosis of Bertolotti syndrome were identified. Lower back pain was the most common presenting symptom and was described in all 13 studies. Radicular pain was described in six of 13 studies. Diagnostic, intraoperative, and postoperative assessments included preoperative radiographs, CT, MRI, along with targeted injections. Treatment options ranged from nonsurgical to surgical measures. Conservative options included physical therapy, nonsteroidal anti-inflammatory medications, bracing treatment, and targeted injections. Surgical modalities included open surgical resection and posterior spinal fusion. All patients in the 13 studies demonstrated partial or complete resolution of their presenting symptoms.

Conclusions:

This study provides a proposed systemic algorithm for the management of Bertolotti syndrome in the pediatric population. Based on our review of the current literature, we recommend a stepwise approach to the management of Bertolotti syndrome starting from conservative options and progressing toward surgical treatment if symptoms persist.

Bertolotti syndrome is defined as a combination of low back pain with the presence of a radiographic sign of congenital variant of lumbosacral transitional vertebrae (LSTV) in which the transverse process (TP) of the L5 vertebra is enlarged or dysplastic and may make contact with or be fused to the sacrum or ilium on the left, right, or bilaterally.¹ This structural irregularity can result in changes to body mechanics as well as pain and discomfort.² The Castellvi classification system is commonly used to categorize these LSTV variations, which range from unilateral or bilateral enlargement of the TP to complete fusion with the sacrum or ilium.³ Although the etiology of Bertolotti syndrome is multifactorial and poorly understood, it is acknowledged as an important cause of back pain in adults, with a prevalence of 4% to 8% in the general population.⁴ However, its presence and impact on the pediatric population are not as extensively studied.

In children and adolescents, Bertolotti syndrome typically presents as lower back discomfort that might be mistakenly linked to more typical pediatric conditions like growth-related pains or muscle strain.¹ Pain can be localized or radicular, and occasionally, patients can present with additional spine conditions including disk degeneration and bulging as well as scoliosis because of asymmetric loading of the spine.⁵ These symptoms can markedly disrupt a child's activities and quality of life.

Current understanding of Bertolotti syndrome primarily derives from studies in adult populations, highlighting the prevalence, symptoms, and treatment approaches for this condition. Treatment options can be wide-ranging. They include conservative methods like physical therapy (PT), anti-inflammatory medications, and lifestyle adjustments, as well as more aggressive options such as corticosteroid injections and radiofrequency ablation (RFA). In severe cases, surgical procedures like transitional vertebra resection or spinal fusion may be indicated.⁶ Despite these options, there is no consensus on a treatment algorithm for adult patients with Bertolotti syndrome.

Similarly, no agreement currently exists for the management of this syndrome in children because of the lack of robust data in this specific population. Most of the studies published on pediatric Bertolotti syndrome are case reports and small-scale studies. Despite this, available studies emphasize the importance of early and accurate diagnosis to allow for timely management, given the diagnostic challenges associated with this condition. Quinlan et al¹ found that in patients younger than 30 years, the prevalence of Bertolotti syndrome was up to 11.5% while Illeez et al's radiographic review of 400 children age 10 to 17 years found an LSTV occurrence of 16.8%.⁷ These studies suggest that Bertolotti syndrome may be underdiagnosed in younger patients and if left untreated, may lead to chronic pain and disability.⁸ In 2019, Cuenca et al suggested a management plan for pediatric patients with Bertolotti syndrome. Their algorithm involved a step-wise approach starting with pain management through medication, rest, and PT before moving on to diagnostic and therapeutic localized injections of lidocaine and corticosteroids and surgery for more severe cases.⁹ However, their proposal is limited given the lack of robust data on this topic. There is a clear need for a comprehensive review that consolidates the available data, addresses the unique aspects of the condition in younger patients, and offers evidence-based guidance for diagnosis and management.

The goal of this systematic review was to compile and analyze the existing research on pediatric Bertolotti syndrome. Our goals are twofold: first, to offer a summary of the clinical presentation, diagnostic methods, and treatment choices specifically for children and teenagers and second, to create a management algorithm tailored to these young patients. This algorithm is designed to aid clinicians and orthopaedic surgeons in making informed care decisions based on current evidence.

Methods

Search Strategy

The review process was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A digital search of the online medical literature database MEDLINE (PubMed) was conducted between December 12, 2023, and December 20, 2023. The search strategy used the following phrase: (Bertolotti Syndrome OR Bertolotti's Syndrome) AND (Pediatric OR Child OR Adolescents) AND (Lumbosacral Transitional Vertebra OR Spine Abnormalities). No filters were used to further narrow the results.

Study Selection

All studies retrieved through the search process described above were screened and data extracted by the two independent researchers. Studies were first screened by abstract and title, followed by a full-text review. Studies were included if they met certain inclusion criteria: pediatric patients age 0 to 18 years with Bertolotti syndrome, treatment and outcome of each patient clearly described, and any follow-up data. Given the dearth of available studies on Bertolotti syndrome, case reports or case series with at least one pediatric patient were also included. Studies involving only adult patients or studies with mixed pediatric and adult populations that did not distinguish outcomes by patients' age were excluded. In addition, studies published in languages other than English and studies with specified follow-up periods of less than 6 weeks were excluded.

Data Extraction

The following information was extracted from each eligible study for this review: first author name, year of publication, number of patients per study, mean age, sex, presenting symptoms, mean duration of symptoms before treatment, Castellvi classification, and comorbid spinal diseases. In addition, we collected data on diagnostic and preoperative imaging, intraoperative imaging, postoperative imaging, imaging findings, and postoperative status. We also collected data on treatment options (both nonsurgical and surgical), posttreatment status (with follow-up period and recurrence rate), nonrecurrence complications, and rates of additional procedures. For studies that did not clearly specify the described categories, the associated data were left unrecorded.

Results

Search Results

Our initial search resulted in a total of 232 studies. A total of 113 studies then underwent full-text review after title and abstract screening. After applying exclusion criteria, a total of 13 studies were included (Figure 1).

Figure 1.

Literature search and identification of eligible studies.

Study Characteristics

All studies included were case reports (level of evidence¹⁰: 4). These 13 studies included a total of 17 cases with patients 18 years of age and younger with Bertolotti syndrome. Specifically, one case report included two patients,¹¹ and another described three patients.¹² The remaining cases were single-patient case reports.

Diagnosis and Workup

Clinical Presentation

Table 1 presents a comprehensive data set with information on each patient's clinical presentation, number of patients per study, mean age, sex, presenting symptoms, Castevelli classification, and symptom duration before treatment. Across the studies, the age ranged from 10 to 18 years, with a male-to-female ratio of 6:11 among the cases with available data (16 of 17 cases). Back pain, predominantly in the lower back, emerged as the primary report across all patients.^9,11-22 Radicular pain was reported in six of the 13 studies,^{11,12,15,17,18,20} alongside other reports such as nonradicular pain, buttock pain, hip pain, abdominal pain, and nocturnal pain. The duration of symptoms varied, ranging from months to years, with some patients experiencing chronic discomfort lasting up to 5 years.^13,18 Castevelli classifications were provided in eight studies,^{9,11,12,14,15,19,20,22} with the most frequent subtype being IIa, characterized by unilateral pseudoarticulation of the TP and sacrum with incomplete lumbarization/sacralization (Figure 2). In one study, the LSTV was noted to not neatly fit into the Castellvi classification.¹⁶ Comorbid spinal conditions were noted in a few patients, including thoracolumbar scoliosis,¹² a 9° lumbar spine curvature and disk degeneration above the transitional vertebrae,²¹ and disk bulging.^12,14 Spine bifida was not reported among the cases reviewed.

Table 1.

Clinical Presentation and Characteristics of Included Studies

Author (Reference)	No. of Patients (n)	Mean Age (Range, If Applicable; yrs)	Sex	Presenting Symptoms (No. of Patients Affected, If Applicable)	Mean Duration of Symptoms Before Treatment	Castellvi Classification	Comorbid Spinal Diseases
Babu et al13	1	17	F	Nonradicular, chronic LBP duration	4-5 yrs	Not reported	None reported
Brault et al15	1	17	F	LBP, radicular pain, night pain, inability to walk, duration	2 yrs	IIa	None reported
Jonsson et al18	2	15.5 (13-18)	F, M	13 yo: radicular LBP, 2 yrs 18 yo: radicular LBP, 5 yrs	3.5 yrs	Not reported	None reported
Louie et al11	2	15 (14-16)	F, M	14 yo: LBP, radicular RLE pain, 9 mo 16 yo: LBP, radicular LLE, 2 yrs LBP, 3 mo LLE	16.5 mo	14: IIa 16: III	None reported
Rodriguez et al20	1	Cuenc	M	Abdominal pain, back pain radiating to L flank	3 mo	IIa	None reported
Mustafa Ali et al19	1	17	F	LBP, focal TTP over SI b/l and L5 SP	2 mo	IIa	None reported
Cuenca et al9	1	13	Not stated	L hip pain, LBP	4 yrs	IIB	None reported
Sumarriva et al22	1	17	M	L LBP	2 yrs	IIA	None reported
Dhanjani et al12	3	15.33 (13-17)	F, M	17 yo: 4 y LBP radiating to RLE 13 yo: LBP radiating to LLE × 18 mo 16: Nonradicular LBP 2 y	2.5 yrs	17: IIa 13: IIa 16: IIB	Thoracolumbar scoliosis; disk bulge
Batt et al14	1	14	F	Nonradicular LBP × 6 mo	6 mo	IIa	Vertebral disk bulge
Fecteau et al17	1	16	F	LBP with radiation down LLE	4 yrs	Not reported	None reported
Chung et al16	1	16	M	R > L b/l LBP/hip pain/buttock pain	2 yrs	Patient noted to not fit into Castellvi classification	None reported
Santavirta et al21	1	18	F	LBP, no radiation	2 yrs	Not reported	Modest degeneration of disk above transitional vertebrae, lumbar scoliosis curve of 9° sin

LBP = low back pain

Figure 2.

Castellvi classification. TP = transverse process

Evaluation

A complete data set describing the evaluation of patients with Bertolotti syndrome is listed in Table 2. The studies included in this review evaluated patients using a combination of imaging modalities, including radiographs (XR), CT scans, magnetic resonance imaging, bone scans/single-photon emission CT (SPECT), and O-Arm. Imaging was used preoperatively for diagnosis, intraoperatively, and/or postoperatively, depending on the study.

Table 2.

Summary of Patient Evaluation, Including Preoperative, Intraoperative, and Postoperative Imaging

Author (Reference)	Preoperative/Diagnostic Imaging	Intraoperative Imaging	XR Findings	CT Findings	MRI Findings	Other iImaging Findings	Postoperative Imaging
Babu et al13	CT, MRI	Intraoperative 3D CT navigation	Not done	Anomalous transverse processes at the L5-S1 level and pseudoarticulation with the sacrum	Anomalous transverse processes at the L5-S1 level and pseudoarticulation with the sacrum	None	3D CT navigation
Brault et al15	XR, CT, MRI, EMG, SPECT bone scan	Not done	Six typical lumbar vertebra with partial sacralization of the caudal segment on the right	Not reported	Right anomalous transverse process seen. Failed to show L5-L6 and L6-S1 disk degeneration, herniation, or neural compromise. Normal right L6-S1 anomalous articulation	SPECT: Increased uptake at the right L6-S1 vertebrae. EMG: Not reported	XR
Jonsson et al18	XR obtained for both patients 13 yo: + scintimetry; 18 yo: no scintimetry done	Not done	Articulation against the sacral as well as iliac bone; articulation against the sacral bone	Not done	Not done	Scintimetry: Normal, without focal uptake increase corresponding to articulation	Not done
Louie et al11	14 yo: XR, CT, MRI 16 yo: CT, MRI	Not done	14 yo: Right-sided partially sacralized L5 vertebra with pseudarthrosis between L5-S1 and ileum With areas of irregularity/sclerosis	14 yo: Right-sided partially sacralized L5 vertebra with pseudarthrosis between L5-S1 and ileum With areas of irregularity/sclerosis 16 yo: Enlarged left L5 transverse process fused with the ilium and sacrum, with mild degeneration/sclerosis of the left L5 pars interarticularis	14 yo: Right-sided partially sacralized L5 vertebra with pseudarthrosis between L5-S1 and ileum With areas of irregularity/sclerosis 16 yo: Enlarged left L5 transverse process fused with the ilium and sacrum, with mild degeneration/sclerosis of the left L5 pars interarticularis	None	CT for both patients
Rodriguez et al20	XR, CT with 3D reconstruction, MRI, SPECT	Not done	Large transverse apophysis in L5	Large transverse apophysis in L5	Large transverse apophysis in L5	SPECT: Asymmetry in uptake in L5-S1 vertebra	None
Mustafa Ali et al19	CT	None	None	Pseudoarticulation on the left between the TP of the L5 vertebra, sacral ala, and ilium	None	None	None
Cuenca et al9	XR, CT, MRI, bone scintigraphy	None	Left transverse mega-apophysis had developed at the expense of L5	Sacralization of L5 on left, transverso-sacroiliac neo articulation	Intramedullary bone edema on either side of the left transversosacroiliac neoplastic joint with a hypoplastic L5-S1 intervertebral disk	Bone scintigraphy: Neoarticulated hyperfixation and a transversosacroiliac bone conflict	XR
Sumarriva et al22	XR, MRI	XR/fluoroscopy	L5 vertebra with prominent transverse processes bilaterally, with the left transverse process articulating with the sacrum	None	Showed no central or foraminal stenosis and no disk herniation	None	None
Dhanjani et al12	19 yo: XR, MRI, CT14 yo: XR, MRI, CT17 yo: XR, MRI, CT	16 yo: XR/fluoroscopy	17 yo: Foraminal stenosis of the L5 and S1 nerve roots with a right L5 TP overgrowth with pseudarthrosis abutting the sacrum 13 yo: Mild left thoracolumbar levoscoliosis and sacralization of L5 vertebra and decreased disk height at the right sacral wing16 yo: Mild left thoracolumbar levoscoliosis and sacralization of L5 vertebra	17 yo: Pseudoarticulation of the hypertrophied right L5 transverse process with the right sacral wing13 yo: Mild left thoracolumbar levoscoliosis and sacralization of L5 vertebrae with pseudarthrosis16 yo: Abnormal TP elongation bilaterally	17 yo: Mild disk bulge at L5-S1; foraminal stenosis of the L5 and S1 nerve roots in conjunction with a right L5 TP overgrowth with pseudarthrosis abutting the sacrum13 yo: sacralization of L5 vertebrae and decreased L5-S1 disk height and hydration16 yo: Abnormal TP elongation bilaterally, an incidental L5-S1 disk bulge with mild bilateral neuroforaminal narrowing but no evidence of stress fracture	None	XR
Batt et al14	15: XR, CT, SPECT	None	Unilateral left hemisacralization of L5 on S1 and left facet joint sclerosis at L4-5, no radiographic evidence of parts interarticularis defect	Transitional vertebral body at the L5 level with a pseudarthrosis of the left TP of the L5 vertebra; minimal L4-5 central disk bulge	None	SPECT: Increased uptake in the superior portion of the left L5 TP of the L5 vertebra, suggesting a stress fracture	None
Fecteau et al17	XR, MRI	None	3 mm of retrolisthesis of L4 on L5 and lumbosacral segmental abnormality with broad transverse processes of L5 articulating with the sacrum	None	3 mm of retrolisthesis of L4 on L5 and lumbosacral segmental abnormality with broad transverse processes of L5 articulating with the sacrum	None	None
Chung et al16	XR, CT, MRI	Intraoperative 3D CT navigation	Osteophyte growth in the superior aspect of the sacral ala, smaller transverse process bilaterally with a height of less than 20 mm	Proximity between the L5 transverse processes and sacral ala; right transverse process width of 14.4 mm and a left transverse process width of 14.6 mm	Normal 17.5 mm spinal canal at L2 and no notable congenital spinal stenosis or other diagnosis in the lumbar region	None	XR
Santavirta et al21	XR	None	Bilateral neoarthrosis; other findings not detailed. Classified as “type V” per old classification	None	None	None	XR, CT

SPECT = single-photon emission CT; TP = transverse process

Preoperatively, the imaging protocols varied across studies, with XR being the most common modality used.^{9,11,12,14-18,20-22} Other common options included CT and MRI, with one case using a three-dimensionally reconstructed CT.²⁰ In some cases, more specialized techniques like bone scans were done (scintigraphy/scintimetry, and SPECT),^{9,14,15,18,20} highlighting areas of inflammation; these studies were usually if there was a suspicion for spondylolysis or stress fracture. One case used EMG.¹⁵ XR frequently identified anomalies such as anomalous TP at the L5-S1 level and pseudoarticulation with the sacrum, with some cases displaying large transverse apophysis in L5 or transverse mega-apophysis development. CT scans, when used, corroborated XR findings, consistently depicting the anomalous TP and pseudoarticulation at the lumbosacral junction.^{9,11-14,16,19,20} Similarly, MRI scans provided detailed soft tissue evaluation, especially in cases where other intraspinal anomalies like disk degeneration, herniation, or neural compromise were suspected, noting intramedullary bone edema and disk abnormalities alongside the bony anomalies observed on XR and CT.^{9,11-13,15-17,20,22}

In some of the reviewed cases involving surgical resection, different intraoperative diagnostic tools were employed. Intraoperative three-dimensional (3D) CT navigation was used in one case^13,16 and allowed for precise visualization and localization of anatomical landmarks, particularly the L5-S1 intervertebral space and transitional segments. This advanced imaging technology enabled real-time localization of the transitional segment following soft tissue dissection. In another case, intraoperative CT scans were generated using a rotational fluoroscopic imaging system to confirm adequate bone resection.¹⁶ In addition, in two other cases, XR/fluoroscopy imaging was employed intraoperatively to confirm the successful resection of transitional articulations in two cases.^12,22

Across studies, postoperative imaging techniques were sometimes employed, including immediately post-op 3D CT navigation to verify surgical resection adequacy, XR and CT scans to assess stability and confirm resection. Long-term follow-up XR and CT assessments, up to nine years postsurgery in one study, were useful to determine the durability of surgical interventions, with assessments focusing on disk mobility, vertebral alignment in patients with scoliosis, and the presence of recurrent pathology.

Treatment Options

Nonsurgical

Across the 13 studies included in our analysis, a variety of nonsurgical treatment modalities were employed (Table 3). These ranged from more conservative measures including rest and activity modification to targeted interventions such as diagnostic and therapeutic injections—utilizing image-localized corticosteroids to the pathologic articulation as well as lidocaine and trigger point injections. Oral pain medications such as NSAIDs and muscle relaxants were commonly prescribed, and patients were often advised to modify their physical activities and undergo PT. In some cases, this was complemented by adjunctive measures like bracing treatment²² and lumbosacral corset utilization.¹⁴ Rarely, more specialized interventions like epidural steroid injections were done.¹⁶ Finally, one case explored alternative therapies such as acupuncture and thermotherapy.¹⁵

Table 3.

Summary of Operative and Non-operative Treatments and Outcomes, Last Recorded Patient Status, Surgical Complications or Additional Post-operative Procedures Among Included Studies

Author (Reference)	Non-surgical Treatment	Operative Treatment	Last Recorded Patient Status (No. of Patients, If Applicable)	Mean Follow Up Period (Range, If Applicable; mo)	Surgical Complications or Additional Post-surgical Procedures
Babu et al13	Trigger point injection resulting in transient pain relief	L5 TP resection	Asymptomatic	10 mo	None discussed
Brault et al15	NSAIDs, narcotics, manipulation, thermodalities, acupuncture, exercise with limited benefit. Corticosteroid and local anesthetic injections ×3 with relief for 2-3 mo each time	L6 TP resection	90% relief of the left low back pain and complete relief of left leg symptoms within weeks of resection. No activities of daily living impairment and no pain at 1 year	12 mo	None discussed
Jonsson et al18	PT, local fluoroscopy-guided lidocaine injections into pathologic joint, with initial pain relief	TP resection (both patients)	13 yo: unchanged symptoms at 6 month follow-up 18 yo: pain free at 25 month follow-up	15.5 mo	None discussed
Louie et al11	PT/NSAIDs without relief (both patients)	14yo: TP resection 16yo: TP resection	14 yo: asymptomatic at 2 year follow-up 16 yo: asymptomatic at 1 year follow up	18 mo	None discussed
Rodriguez et al20	NSAIDs, muscle relaxant with initial pain relief. Subsequent CT-guided steroid and anesthetic injections with pain relief	None	Pain relief within unspecified timeframe	Not stated	None discussed
Mustafa Ali et al19	NSAIDS, PT with pain relief	None	Asymptomatic	9 mo	None discussed
Cuenca et al9	Diagnostic fluoroscopy-guided corticosteroid and lidocaine injections transverso-sacroiliac neoarticulation with relief at 1 wk but recurrence of pain at 6 wks	Resection of TP megaapophysis	Return to sports without limitation at 3 mo postsurgery; no pain at 6 wk and 1 yr follow up	12 mo	None discussed
Sumarriva et al22	PT, NSAIDs, muscle relaxers, oral pain medications, activity modification (most effective), all with limited benefit. Diagnostic fluoroscopy-guided test with bupivacaine injection to L transitional articulation with 8 hrs of relief	Anomalous TP resection	Return to sports at 6 wks postsurgery; No pain at 6 mo and at 4 yrs	48 mo	None discussed
Dhanjani et al12	17 yo: PT, NSAIDs, L5-S1 nerve root block with immediate relief for several weeks but return of radiating pain to lower extremity unilaterally 13 yo: PT, NSAIDs 16 yo: PT, bracing treatment, CSI with transient symptom relief	17 yo: Resection of L5 TP pseudoarticulation, decompression of L5 and S1 nerve roots 13 yo: PSF L5-S2 16 yo: Resection of bilateral L5 TPs	17 yo: Completely pain free at 8 month and 1.3 yr follow up postsurgery 13 yo: 1/10 pain at 3 wk follow up, complete resolution at 6 wks with no progression of scoliosis, complete resolution at 6 mo and 2 yrs 16 yo: 3/10 pain at 3 wk follow up, complete resolution of symptoms and back to sports at 2 yrs	21 mo	None discussed
Batt et al14	Rest, activity modification, NSAIDs, lumbosacral corset (switched to soft corset because of discomfort) with gradual resolution of symptoms	None	Return to activity, including swimming, at 3 mo	3 mo	None discussed
Fecteau et al17	PT	None	No constant pain at 8 weeks. Intermittent left lower extremity numbness disappeared. Intermittent left lower extremity pain decreased from 7/10 to 3/10. Patient returned to participation in sports at this time	2 mo	None discussed
Chung et al16	Rest, PT, chiropractor manipulation, epidural steroid injections with limited benefit. Fluoroscopic-guided bilateral injections (dexamethasone and bupivacaine) with notable but transient pain relief	Minimally invasive shaving/resection of osteophyte growth at sacral ala bilaterally, decompression L5 nerve root bilaterally	Asymptomatic at 7 mo follow up	7 mo	None discussed
Santavirta et al21	Not described	Posterolateral fusion	Persistent sciatica bilaterally, fair functional low back mobility, 26% (moderate) disability. However, no low back pain at 9 yrs follow-up	108 mo	None discussed

PT = physical therapy, TP = transverse process

Operative

Among the 17 cases reviewed across 13 studies investigating pediatric Bertolotti syndrome, a range of surgical interventions were employed to address the underlying pathology and alleviate associated symptoms (Table 3). Open surgical resection emerged as the predominant approach and was used in 9 cases,^{9,11-13,15,16,18,21,22} with one instance using minimally invasive techniques.¹⁶ Indications for surgical intervention varied but often included failed conservative therapies such as PT and NSAIDs, alongside persistent symptoms despite other interventions.

The surgical technique commonly involved posterior midline exposure of the lumbosacral junction, subperiosteal dissection to isolate the anomalous TP, and resection using rongeurs or osteotomes. Procedures were guided by intraoperative imaging modalities like fluoroscopic guidance or intraoperative 3D CT-navigation to confirm adequate resection. Surgery was considered depending on a variety of factors, including patient preferences, and pertinent pathological features such as joint pseudarthrosis, abnormal articulation, and nerve root decompression. In cases where resection was nonviable, posterior fusion was performed in two cases.^12,21 In one case, RFA was considered but ultimately not pursued.¹⁵

Outcomes

Data describingsurgical and nonsurgical treatments and outcomes, last recorded patient status, surgical complications or additional postoperative procedures are summarized in Table 3. Following treatment, whether conservative or surgical, most patients had notableimprovements or complete resolution of symptoms. Among patients who underwent surgical resection, nine out of 10 were eventually asymptomatic, with follow-up periods ranging from 7 months to 4 years. The exception was one case of a 13-year-old male with a 2-year history of low back pain who did not endorse any change in symptoms at the last recorded 6-month follow-up. This patient, however, reported initial pain relief with image-localized lidocaine injection.¹⁸ In the cases of posterior fusion, one patient experienced complete resolution of pain within 2 years,¹² while another remained free from low back pain but endured persistent bilateral sciatica, fair functional low back mobility, and moderate disability even after 9 years.²¹ Among those conservatively treated, positive outcomes were common, with most patients reporting pain relief and resuming activities or sports. However, one patient exhibited mild intermittent lower extremity pain, though the patient's last recorded follow-up was relatively short at 8 weeks.¹⁷

Management Algorithm

Based on our review of the literature, we have developed a comprehensive management algorithm for pediatric Bertolotti's syndrome (Figure 3). The goal of this algorithm is to provide a structured approach to diagnosis, treatment, and follow-up. The initial assessment begins with a detailed clinical evaluation of a pediatric patient classically presenting with low back pain (LBP) with or without radiculopathy. The clinician should assess tenderness over the lumbosacral junction, mobility restriction, and asymmetry. Red flag symptoms (eg, motor weakness, urinary or bowel incontinence, saddle anesthesia) warrant urgent evaluation and referral.

Figure 3.

Management algorithm of pediatric bertolotti syndrome. LSTV = lumbosacral transitional vertebrae, TP = transverse process

If no red flag symptoms are present, obtain anterior-posterior (AP) and lateral radiographs. The radiograph should be evaluated for the presence of an LSTV, as well as other conditions like scoliosis, spondylolysis, or spondylolisthesis. In the absence of other diagnoses, Bertolotti syndrome should be considered. As a next step, we recommend CT imaging to assess the LSTV in greater detail. For radicular symptoms, MRI should be obtained to assess for disk herniation or nerve root compression, and to rule out spondylolysis in patients with pain exacerbated by extension and flexion.

In the absence of other notablepathology, the first-line approach is conservative management, consisting of physical therapy, activity modification, and NSAIDs for pain relief. Targeted diagnostic and therapeutic injections (eg, corticosteroid and anesthestic) should be considered, specifically at the L5 TP/sacral articulation, to confirm the source of pain. We recommend a 3-month trial of conservative treatment with continued follow-up. If symptoms improve, continue periodic follow-up. If they do not improve, consider repeat injections or bracing treatment. For recalcitrant cases, we suggest considering surgical intervention. For small lesions, perform isolated resection of the TP if pseudoarticulation is the primary pain generator without notable disk degeneration. For large lesions (eg, Castellvi Type 3+) where resection would be radical, consider fusion of L5-S1 without resection. Nerve decompression may be considered for patients with radicular symptoms in addition to resection or fusion. A gradual return to activity is encouraged within weeks to months, guided by symptom resolution and functional tolerance.

For long-term management, we recommend repeat radiograph to monitor for recurrence or regrowth of the lesion, and clinical assessments to identify new or persistent back pain or neurological symptoms.

Discussion

This review aimed to analyze and consolidate existing research on Bertolotti syndrome in the pediatric population, highlighting the lack of consensus on a treatment algorithm because of the scarcity of studies. While Bertolotti syndrome is well-documented in adults, this condition is not well described in children. Specifically, this syndrome may be underdiagnosed in younger patients and thus may lead to chronic pain and disability if left untreated.^1,7,8 By providing a comprehensive overview of the condition, and describing the clinical presentation, diagnostic methods, and treatment options, this review addresses these gaps and proposes a tailored management algorithm for pediatric patients.

Diagnosis and Workup

The diagnosis and workup of Bertolotti syndrome in pediatric patients can be challenging because of the variable presentation of this condition and the limited specificity of existing diagnostic criteria. In our review, the clinical presentation of Bertolotti syndrome in children primarily involved lower back pain, which was the predominant report across all cases reviewed, with radicular pain reported in several studies. Other symptoms included nonradicular pain, buttock pain, hip pain, abdominal pain, and nocturnal pain that interfered with walking. The duration of symptoms before treatment varied significantly, ranging from months to years, with some patients experiencing chronic discomfort lasting up to five years.

The Castellvi classification system is a widely used criteria to categorize LSTVs based on their morphological features.³ This classification was used in eight studies, with the most frequent subtype being IIa. This subtype is characterized by a unilateral pseudoarticulation of the TP and sacrum with incomplete lumbarization/sacralization. However, it is important to recognize that the Castellvi classification may be limited. For instance, one study noted that relying solely on dysplastic TP height, as outlined in the Castellvi classification, may not effectively identify LSTV anatomy or serve as a sensitive diagnostic tool for Bertolotti's syndrome.¹⁶ This suggests that more research is needed to refine classification systems for better diagnostic accuracy. Of note, Jenkins et al²³ have proposed a newer classification system incorporating radiographic anatomy and clinical relevance of LSTV variants, which may offer improved sensitivity and clinical applicability in pediatric patients.

Radiographic evaluation remains the cornerstone of the initial diagnostic workup. radiograph are typically the first-line imaging modality. This tool can also be used for children presenting with red flag symptoms such as constant pain, night pain, pain lasting more than four weeks, or neurological signs.²⁴ radiograph frequently identify anomalies such as anomalous TP at the L5-S1 level and pseudoarticulation with the sacrum. CT scans are often used to confirm radiograph findings, providing detailed views of the bony anatomy and confirming the presence of anomalous TP and pseudoarticulation at the lumbosacral junction. In the presence of neurologic symptoms, MRI is recommended. Special MRI sequences such as Short Tau Inversion Recovery or fat-suppressed T2 can help detect bone marrow edema near the pseudoarticulation, suggesting an active pain source. Contrast-enhanced MRI may show soft tissue inflammation, and bone scintigraphy or SPECT-CT can localize metabolically active pseudoarticulations. Intraoperative imaging is imperative to confirm adequate resection.

Treatment Options

The management of Bertolotti syndrome in pediatric patients involves a spectrum of nonsurgical andsurgical treatment modalities, reflecting the complexity and variability of this condition. Our analysis of 13 studies reveals diverse approaches to treatment, emphasizing both conservative and surgical interventions based on symptom severity and response to initial treatment.

Nonsurgical management is typically the first line of treatment, focusing on symptom relief and functional improvement. This includes rest, activity modification, and PT, which emphasizes core strengthening and postural training. This approach aligns with the findings in adult populations, where similar conservative therapies are recommended as initial treatment.²⁴ Oral pain medications, such as NSAIDs and muscle relaxants, are commonly prescribed to manage pain and discomfort.^{11,12,14,15,19,20,22} In addition, bracing treatment with a corset can provide support and alleviate symptoms.¹⁴ These methods aim to reduce pain and improve functional capacity, enabling children to engage in normal activities and sports.

Targeted treatments, including diagnostic and therapeutic injections of corticosteroids and lidocaine into the true facet joints or pseudoarticulation, are essential in both confirming the diagnosis and providing symptom relief.^{12,13,16,18,22} These injections can help identify the specific pain generator as well as offer temporary relief by numbing the affected nerves and reducing local inflammation, allowing for better-targeted subsequent treatments. Notably, the facet joint contralateral to the pseudoarticulation may also serve as a notable pain generator. For example, Brault et al¹⁵ noted that significant pain relief was achieved following corticosteroid and local anesthetic injections at the left facet joint in a 17-year-old patient with a right unilateral lumbosacral articulation.

While conservative treatment options remain the first-line approach, when they become ineffective or symptoms persist, surgery can be considered as a last resort option. Among the reviewed cases, surgical resection of abnormal structures, particularly anomalous or hypertrophic TPs, was the most common approach.^{9,11,12,14,15,17,18,22} This aligns with findings in adult studies where resection has been shown to provide notable symptom relief.⁵ Surgery is often considered after failed conservative treatments and persistent pain affecting quality of life. Intraoperative imaging tools, such as fluoroscopic guidance and 3D CT-navigation, may be used to ensure precise resection and optimal outcomes.^13,16 These techniques may enhance surgical accuracy and minimize complications. Posterior fusion was performed in select cases demonstrating notable disk degeneration at the transitional segment level or extensive TP bridging.^12,21

Alternative modalities such as RFA, acupuncture, thermotherapy have been proposed in isolated case reports, however their efficacy has not been proven.

Outcomes and Follow-Up

The outcomes for both conservative and surgical treatments of Bertolotti syndrome in pediatric patients were generally positive. Most patients who underwent surgical resection achieved complete symptom relief at the last recorded follow-up, usually a few months to up to two years. The two pediatric patients who underwent posterior fusion also had overall favorable outcomes, although one patient continued to experience symptoms like bilateral sciatica and moderate disability despite no LBP at 9-year follow-up. For those treated conservatively, many reported pain relief and resumed normal activities or sports.^14,17,19,20 However, the follow-up periods were variable and the presence of residual symptoms in some cases highlight the need for long-term monitoring. Although specific rehabilitation protocols were not uniformly described, most patients were encouraged to progressively resume activity, with emphasis on core strengthening and postural training. Return to sports was reported as early as 6 weeks postoperatively. While prior research indicates positive surgical outcomes for Bertolotti syndrome,^1,5 there is a lack of robust studies in both adult and pediatric populations to conclusively compare the efficacy of surgical versus conservative treatments.

Treating Bertolotti syndrome in children requires a personalized approach, balancing conservative treatments with timely surgery when needed. Understanding the unique presentation of the condition in children can lead to more effective management and better patient outcomes. More research is essential to refine treatment plans and diagnostic criteria, ensuring that children with this condition get the most appropriate and effective care.

Limitations

This review has several limitations that should be considered. First, most of the included studies were case reports and small-scale studies, which limits the generalizability of the results. Relying on these studies introduces potential publication bias because cases with successful outcomes are more likely to be reported, while unsuccessful or neutral cases might remain unpublished. Also, the relatively small sample sizes in the included studies, combined with the lack of extensive data on pediatric Bertolotti syndrome, may mean that the full spectrum of clinical presentations and treatment responses may not be fully captured. Larger studies are needed to validate these findings and provide more generalizable data.

There was also a lot of variability in the methodologies used, including differences in diagnostic criteria, imaging methods, and treatment protocols. Without a larger sample size, this makes it challenging to draw definitive conclusions about the best management strategies for Bertolotti syndrome in children. In addition, the studies we reviewed had varied follow-up periods, from a few months to several years, which could affect the consistency of the outcomes reported. Another major limitation is the lack of standardized outcome measures. Different studies used various criteria to assess treatment success, ranging from subjective patient reports to objective clinical evaluations. This inconsistency makes it hard to perform a comprehensive meta-analysis and weakens the robustness of the conclusions. More research is also needed on long-term outcomes, particularly regarding recurrence rates and the sustainability of symptom relief. Many studies included in this review had limited follow-up durations, so longer term data are essential to understand the lasting effects of both conservative and surgical treatments.

Conclusion

In this study, we reviewed the current literature on the diagnosis and management of Bertolotti syndrome in children. Bertolotti syndrome is a condition involving LSTV that can cause notable back pain and functional impairment for patients. Despite the relatively high prevalence of this syndrome in adults, it remains underreported in the pediatric literature. Based on our review, we have proposed a stepwise algorithm for managing this condition, starting with conservative treatments and progressing to surgical interventions when necessary. Providers should be vigilant and consider Bertolotti syndrome in the differential diagnosis when evaluating LBP in pediatric patients.