Vertebral Anomalies Research Articles

Relation of low back pain with lumbosacral transitional vertebrae in Eastern Indian population

Relation of low back pain with lumbosacral transitional vertebrae in Eastern Indian population

Role of L5 Nerve Root Morphology in Identification of Lumbosacral Transitional Vertebra. Is it a Reliable Indicator?

Objective: To determine whether L5 nerve root morphology can assist in identification Lumbosacral Transitional vertebra. Study Design: Cross sectional study. Place and Duration of Study: Radiology Department, Combined Military Hospital, Multan Pakistan, Apr 2019 to Apr 2020. Methodology: Patients of both genders, 15 to 50 years age who underwent whole spine MRI were included in the study. Patients were referred from Combined Military Hospital Multan, from neighboring Combined Military Hospitals and Civil. Sagittal and axial T1WS and T2WS were performed along with coronal T2WS/FS sequences. Axial images were assessed for identification of L5 nerve root arising from LV5-SV1 level and hence vertebra was identified as LV5. Correlation was done with sagittal images for presence of Transitional vertebra, further confirmed by counting vertebral bodies from C2 vertebra upto sacrum using cross referencing tool. Results: A total of 135 patients were included in the study. Out of these, transitional vertebra was confidently labeled in 23 patients by nerve identification method which was confirmed on vertebral counting method. However, in four patients, L5 nerve root morphology was not clear and we had to rely on vertebral counting method for identification of transitional vertebra. Conclusion: Neuroanatomy and morphology of exiting L5 nerve roots can act as a reliable method for numbering of lumbosacral vertebra and identification of transitional vertebra.

Castellvi classification of lumbosacral transitional vertebrae: comparison between conventional radiography, CT, and MRI.

The reliability and diagnostic accuracy of commonly used diagnostic imaging modalities in the classification of lumbosacral transitional vertebrae (LSTV) are poorly known, and comparative studies are scarce. To compare the diagnostic performance of conventional radiography (CR), computed tomography (CT), and magnetic resonance imaging (MRI) in classifying LSTVs. In this retrospective cross-sectional study, a total of 852 patients undergoing lumbar imaging studies using all three modalities were initially assessed for the presence of LSTV using CT scans. In total, 100 patients with LSTV anatomy were identified. Four readers performed blinded and independent evaluations of these 100 patients on each modality, and an experienced fellowship-trained radiologist performed a gold standard read using all three modalities. Inter-reader reliability metrics were analyzed in comparison to the gold standard. Statistical software R (4.2.1) was used for the analyses. We found superior diagnostic efficacy for CT: the sensitivity, specificity, accuracy, and balanced accuracy were 76%, 93%, 77%, and 84%, respectively. For MRI, the metrics were 54%, 88%, 56%, and 68%, and for CR 32%, 85%, 42%, and 59%, respectively. Inter-reader reliability was found to be good for CT (κ = 0.63-0.71) and fair for both CR (κ = 0.16-0.32) and MRI (κ = 0.24-0.56). CT had the highest diagnostic performance in all measured metrics with good inter-reader reliability. MRI and CR showed fairly poor sensitivity and accuracy, and thus consideration should be used when classifying LSTVs with these two modalities.

The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB

AbstractSpondylocarpotarsal synostosis syndrome (SCT) (OMIM: 272460), an autosomal recessive disorder, is characterized by block vertebrae, carpal–tarsal synostosis, and disproportionate short stature. The clinical features of SCT include dysmorphic facial traits, cleft palate, hypoplastic tooth enamel, brachydactyly, clinodactyly, limited joint movement, and mixed hearing loss. SCT is associated with biallelic nonsense and frameshift pathogenic variants in the FLNB gene. An 8-year-old patient was referred with suspected skeletal dysplasia. The patient presented with short stature, scoliosis, carpal–tarsal synostosis, and ventricular septal defect (VSD). Clinical exome sequence analysis revealed a homozygous frameshift variation in the FLNB gene (c.219_222dup p.Met75Profs*17). No other pathogenic variations in genes related to VSD were found. This study aims to discuss novel clinical findings related to the genotype–phenotype association. To the best of our knowledge, this is the first reported case of SCT with VSD.

Oral pharmacological management of Bertolotti syndrome presenting as chronic low back pain – A case report and review of literature

BackgroundBertolotti syndrome (BS) is often a missed cause of chronic lower back pain in young individuals, commonly associated with the presence of anomalous lumbosacral transitional vertebrae. Case presentationA 19-year-old female with no significant medical or family history presented with persistent lower back pain localized to the gluteal region and posterolateral aspect of the left lower back. The pain worsened over time and limited their movements, including walking. A Ferguson radiograph revealed fusion of the left transverse process of the L5 vertebral segment with the left sacral ala. History, examination findings, and radiological workup confirmed the diagnosis of BS. The patient preferred conservative management, receiving oral pharmacological therapy for six weeks, along with education on preventive measures and routine exercises for postural stability. At a six-month follow-up, the patient remained asymptomatic and managed well. ConclusionsConservative oral pharmacological treatment presents a unique and viable alternative to traditional methods for managing BS, which often involve surgery or steroids/anesthetics at the pseudo-articulation site. Given that BS is common yet underdiagnosed in young patients with chronic back pain, this report also underscores the importance of including it in differential diagnoses for chronic lower back pain in this demographic.

The Implications of Sacralized Transitional Vertebra on Spinal Alignment.

Retrospective study of a multicentric prospective database. This study aimed to determine, in a cohort of healthy volunteers, the impact of sacralized lumbo-sacral transitional vertebra (LSTV) on spinal alignment according to its grade, particularly regarding lumbar lordosis magnitude and distribution, and the implications for spinopelvic parameters measurement. There is little data regarding spinopelvic alignment assessment in LSTV patients. This study included healthy volunteers with full-body stereoradiographs in free-standing position aged over 18. Castellvi grade, pelvic parameters (measured on S1 and L5), L1-S1 lumbar lordosis (LL) and segmental lordosis for each disc and vertebral body, thoracic kyphosis, cervical lordosis, lower limb, and global alignment parameters were assessed. Castellvi I and II were considered as Low-grade and Castellvi III and IV as High-grade LSTV. Alignment parameters between No-LSTV, Low- and High-grade LSTV were compared. Propensity score matching was used to match PI in No-LSTV and Low-grades. Spinopelvic parameters measured on S1 in No-LSTV group and on L5 in High-grade were compared. 713 subjects were included, of whom 23 Low-grades and 27 High-grades. Mean pelvic incidence was 51.0±11.0° and mean age was 37.5±16.2 years. LL distribution was different between groups, with an apex and inflexion point significantly higher in High-grade (P<0.001). Kyphosis in the LSTV segment was compensated for by a steeper increase of LL above L5 in the High-grades. Low-grades and PI-matched No-LSTV presented similar alignment parameters. There were minor differences in parameters measured on S1 in No-LSTV and no L5 in High-grades. Subjects with low-grade LSTV present similar alignment as PI-matched No-LSTV subjects, and S1 should be taken as reference to measure spinopelvic parameters. High-grade LSTV subjects have kyphotic L5-S1 segment with more cranial lumbar apex and thoracolumbar inflexion point. In these subjects, spinopelvic parameters should be measured on L5.

Prevalence and characteristics of lumbar ribs: a meta-analysis with anatomical and clinical considerations.

Lumbar ribs (LR) are a rare and relatively unknown anatomical abnormality of the lumbar spine. The literature provides better understanding regarding other spinal congenital variations like cervical ribs or lumbosacral transitional vertebrae, which are rather commonly recognised conditions. Thus, this meta-analysis aimed to provide data on prevalence and key characteristics of LR. Relevant databases were systematically searched for studies reporting the prevalence, laterality and geographic distribution of LR. No exclusion criteria based on language and date of original articles were employed. The pooled prevalence estimates (PPE) were calculated using a random-effects model. To assess the between-study heterogeneity, the I2 statistic and Chi-square test were utilized. Throughout the investigation, the PRISMA guidelines were adhered to scrupulously. Evaluation of the included studies' reliability was made with the AQUA tool. In total, 9 studies were included in this meta-analysis. The pooled prevalence estimate (PPE) of LR was 2.1% (95%CI: 1.0-4.6). In studies based on CT imaging, LR were found in 1.6% (95%CI: 0.6-4.3) of patients and in Xray based studies in 2.1% (95%CI: 0.4-11.1) of patients. Lumbar ribs were bilateral in majority of individuals (65.4%, 95%CI: 39.4-84.6) and could be most frequently encountered in Europe with PPE of 2.8% (95%CI: 3.0-20.0), then in East Asia with PPE of 1.5% (95%CI: 1.0-19.2) and Middle East with PPE of 1.1% (95%CI: 0.6-20.0). The findings of our study indicate that LR are a common anatomical variation of lumbar spine, contrary to previous beliefs. In a clinical practice, when a patient presents with a non-specific low back pain, a possible occurrence of LR should be taken into consideration. The presence of LR may be misleading for surgeons and result in wrong-level spine surgeries.

Evaluation of measurements for tracheal hypoplasia in French bulldogs.

Tracheal narrowing may increase airflow resistance, resulting in clinical manifestations associated with brachycephalic obstructive airway syndrome (BOAS). When diagnosing tracheal hypoplasia, established values are based on measurements established for English bulldogs or non-specific "bulldog" breeds. The objective of this study was to investigate tracheal diameter ratios in French bulldogs to gain a better understanding of what would constitute tracheal hypoplasia in this breed. A retrospective observational analysis was conducted to measure the right lateral thoracic radiographs of 139 French bulldogs to investigate tracheal diameter ratios. Pulmonary disease was observed in 55/139 dogs. The mean TD:Ti for healthy French bulldogs was 0.15 (±0.02), and the mean TD:ML was 0.32 (±0.07). 44/84 dogs had a TD:Ti<0.15 (±0.02), and 37/65 dogs had a TD:ML<0.32 (±0.07). At least one thoracic vertebral anomaly was observed in 131/139 of evaluated French bulldogs, and sternal malformations were observed in 42/139 dogs. TD:ML showed an excellent interclass correlation between observers (ICCinter 0.9562). The listed covariables were compared for statistical significance when measuring relative tracheal ratios, and none were found. There was a statistically significant relationship between TD:Ti and sex. An objective value for tracheal hypoplasia in French bulldogs has previously not been established. The mean TD:Ti described for French bulldogs in this study is higher than that previously described in other "bulldog" populations. The mean TD:ML is similar to previously reported for non-brachycephalic and non-bulldog brachycephalic small breed dogs. The correlative relationship between TD:Ti and TD:ML was statistically significant but weak.

Risk factor analysis of persistent low back pain after microdiscectomy: A retrospective study

ObjectiveMicrodiscectomy is an effective and safe treatment for patients with symptomatic lumbar disc herniation (LDH) that is refractory to conservative interventions. However, some patients experience persistent low back pain (PLBP) after microdiscectomy that is secondary to progressive disc degeneration and segmental instability. This study aimed to clarify the definition of PLBP and analyze its prevalence and associated risk factors. MethodsThis retrospective study included patients who underwent microdiscectomy for LDH at our hospital between 2015 and 2019. We divided this cohort into patients who did (PLBP group) or did not (non-PLBP group) experience PLBP after microdiscectomy and compared their clinical, radiological, and anatomical parameters. We analyzed the relationship between PLBP post-microdiscectomy and the following variables: age, sex, disk herniation level, recurrent disk herniation, body mass index (BMI), modic changes on MRI, facet subluxation, preoperative lumbar pain, and lumbosacral transitional vertebrae (LSTV). ResultsPLBP after microdiscectomy was diagnosed in 99 (29.8 %) of the 332 patients enrolled in this study. Based on our multivariate logistic regression analysis, L5-S1 disc herniation level, recurrent disc herniation after microdiscectomy, obesity, modic changes on preoperative MRI, and facet subluxation were independent risk factors for PLBP post-microdiscectomy. Women and patients aged <50 years showed a trend of increased risk for developing PLBP after microdiscectomy; however, this trend did not reach statistical significance. ConclusionsPLBP after microdiscectomy is a frequent and understudied condition. We found that an L5-S1 disc herniation level, recurrent disc herniation, obesity, modic MRI changes, and facet subluxation were risk factors for PLBP after microdiscectomy. These results can help surgeons in developing a better understanding of lumbar microdiscectomy outcomes.

Integrative Korean medicine treatment for low back pain with radiculopathy caused by Bertolotti syndrome: A CARE-compliant article and retrospective review of medical records.

Bertolotti syndrome (BS) is characterized by radiculopathy caused by structural anomalies. Despite the structural deformity, conservative treatment is predominantly recommended due to surgery-related complications. Because of the diagnosis complexity, the incidence and contributing factors of BS, remain controversial. We report the case of a patient with BS who was treated with integrative Korean medicine (IKM). Moreover, we evaluated the epidemiological characteristics of lumbosacral transitional vertebrae (LSTV) from medical records of patients diagnosed with LSTV at 4 different medical clinics of Korean medicine. A 33-year-old male patient with low back pain and severe radiculopathy was diagnosed with BS (Castellvi Type II) on magnetic resonance imaging at a local orthopedic clinic. Additionally, the medical records of patients with BS who had been treated with IKM in 4 different institutions of Korean medicine were analyzed, and the characteristics of patients suffering from BS were identified. The patient underwent IKM treatment for 40 days as an inpatient. The patient's condition was assessed using the Euroqol 5-dimension index and Oswestry Disability Index, and symptom severity was measured using the Numeric Rating Scale. IKM was effective in improving pain and functional disability without causing any adverse effects. In a retrospective review of medical records, the study identified symptom trends reported by patients with LSTV. IKM demonstrates potential efficacy in BS management, with notable trends in LSTV-related symptomatology warranting further investigation.

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments.

Spontaneous Rupture of Prenatally Detected Thoracic Neurenteric Cyst: Case Report and Review of Literature

AbstractNeurenteric cysts are usually associated with vertebral anomalies of the same segments of vertebrae. Rarely, they can be detected antenatally. The prognosis depends upon the size and site of the lesion. In cases of small cysts with minimal mass effect, the prognosis is good. Larger cysts, however, can cause hydrops fetalis and, if untreated, can lead to intrauterine fetal demise. The present case report describes the successful conservative management of the neurenteric cyst detected prenatally and is accompanied by a summary from literature.

Symptomatic and Morphometric Analysis of Lumbosacral Transitional Vertebrae: Assessments by Age and Gender

Aim: Lumbosakral transitional vertebrae (LSTV) are anatomical variations where a vertebra exhibits characteristics of both lumbar and sacral vertebrae. This study aims to assess anatomical changes in LSTV patients by measuring intervertebral disc height (IVDh), vertebral foramen anteroposterior diameter (FVAPd), and intervertebral foramen height (FIVh), with consideration of age and gender differences. Materials and Methods: This retrospective study included 274 patients diagnosed with LSTV. All MRI images were acquired with a 1.5T MRI machine and a 32-channel lumbar coil. The presence of LSTV, forming the morphological data, was identified from coronal and sagittal reformat images and was classified as either lumbarization or sacralization. Morphometric data (IVDh, FIVh and FVAPd) were acquired from axial, sagittal, and coronal planes using both soft tissue and bone window settings. Results: The mean patient age was 41.6±13.0 years, with a female majority (55.8%). LSTV was predominantly lumbarization (96.4%), with sacralization in the remaining cases. The overall mean FVAPd was 11.2±2.4 mm, mean IVDh was 9.1±1.8 mm, and mean FIVh was 18.8±2.4 mm on the right and 19.1±2.4 mm on the left. IVDh levels were consistent across age groups, while FVAPd values were similar between genders. Patients aged 40 and under had higher FVAPd and FIVh levels, and male patients had higher IVDh and FIVh levels compared to females. Conclusions: The morphometric characteristics of LSTV may vary according to age and gender. Considering these factors in accurately identifying the anatomical variations of LSTV may play a significant role in determining appropriate treatment and management strategies.

BERTOLOTTI'S SYNDROME: DIAGNOSIS AND TREATMENT

IntroductionLumbosacral transitional vertebrae (LSTV) are increasingly recognized as a common anatomical variant and is the most common congenital anomaly of the lumbosacral spine. Patients can have symptomatic LSTV, known as Bertolotti's Syndrome, where transitional anatomy can cause back, L5 distribution leg, hip, and groin pain. We propose an outline for diagnosis and treatment of Bertolotti's Syndrome.MethodsWe retrospectively reviewed over 500 patients presenting to the primary author with low back, buttock, hip, groin and/or leg pain from April 2009 through April 2024. Patients with radiographic findings of an LSTV and clinical presentation underwent diagnostic injections to confirm diagnosis of Bertolotti's syndrome. Treatment was determined based on patient's LSTV classification. 157 patients with confirmed Bertolotti's syndrome underwent surgical treatment.ResultsOver 500 patients presented with an appropriate clinical presentation and radiographic findings of an LSTV. Diagnostic injections were targeted into the transitional anatomy confirming the LSTV as the primary pain generator to make the diagnosis of Bertolotti's syndrome. The decision in the type of surgical intervention, resection or fusion, was made based on patient's LSTV anatomy. 157 patients with confirmed Bertolotti's Syndrome underwent surgical treatment (121 fusions (77%), 36 resections (23%)). The classification system and surgical outcomes, in part, have been previously published in World Neurosurgery.ConclusionWe have outlined the best practice of diagnosis and treatment selection for Bertolotti's syndrome. We have shown significant improvement in outcomes based on this method. We hope to aid in both patient education and provide an outline on how clinicians can become knowledgeable on Bertolotti's syndrome.Conflicts of interestNo conflicts of interestSources of fundingNo funding obtained

Atypical Variants of Spinal Dysraphism: A Case Series

Abstract The aim of this study is to present and discuss atypical instances of spina bifida (SB) within a Nigerian paediatric cohort, highlighting their distinctive clinicoradiological features. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This case series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Amongst these, four cases exhibited segmental spinal dysgenesis (SSD; one thoracolumbar, one lumbar, and two sacral). Each of these cases demonstrated diverse associated musculoskeletal, cutaneous, and perineal anomalies, accompanied by varying degrees of neurological dysfunction. Other cases included lipomyelomeningocele (LMMC), human tail (HT), membranous meningocele, and myeloschisis (MSS). Autonomic dysfunction was a common feature in all of the cases, whilst two of the patients presented with congenital kyphotic spinal deformity. Lower limb anomalies varied, including congenital talipes equinovarus deformity, pes planus, congenital calcaneovagus deformity, rocker bottom feet, clinodactyly, and tetrapolydactyly. Remarkably, none of the patients exhibited clinical features indicative of hydrocephalus. SSD, LMMC, HT, membranous meningocele, and MSS represent atypical forms of SB in the Nigerian paediatric population. Early neuroimaging of patients with suspected spinal dysraphism is crucial, as it may reveal a spectrum of diverse vertebral anomalies associated with this neurological condition within the African population.

The relationship between intervertebral disc pathologies and the use of digital devices and lack of physical activity in adolescents

Background/Aim: Existing research on herniated discs in adolescents primarily focuses on surgical interventions and outcomes, with fewer studies investigating the effectiveness of non-surgical therapies. The correlation between obesity, facet tropism, lumbosacral transitional vertebrae, trauma, certain sports activities, and herniated discs in adolescents is well-documented. Comparable to adults, a sedentary lifestyle in adolescents potentially carries a significant risk of developing disc degeneration and herniation. Consequently, this study aims to examine the relationship between increased digital device usage, decreased physical activity, and the onset of disc pathologies in adolescents. Methods: The study group included 94 patients aged between 10 and 16 years diagnosed with cervical (CDH), thoracic (TDH), and lumbar (LDH) disc disease. For each participant, the individual daily usage time spent on desktop computers, tablets, laptops, and mobile phones and the total time spent on all digital devices were evaluated. Their level of physical activity was also assessed using the International Physical Activity Questionnaire – Short Form (IPAQ-SF). The study eliminated causes such as listhesis, facet tropism, lumbosacral transitional vertebra, trauma, and sports injuries that could prompt the development of these spinal pathologies. Additionally, other conditions that might cause spinal pain, such as scoliosis, rheumatological diseases with spinal involvement, tumors, and myofascial pain, were also ruled out. Results: The average age of all patients was 13.44 (2.07) years. A majority were women (n=55), comprising 58.50% of the sample. Of the patients, 60.64% had CDH, 12.77% had TDH, and 75.53% had LDH. The amount of physical activity and time spent on digital devices were similar across both genders (P=0.194 and P=0.770). A significant correlation was found between CDH and the time spent on tablets, laptops, and mobile phones (P&lt;0.001). Again, a significant correlation was observed between LDH, usage of desktop computers, total time spent on all digital devices, and the IPAQ-SF score for low physical activity (P&lt;0.001). Conclusion: The prevalence and duration of digital device use among adolescents are increasing, while physical activity is decreasing. Our study indicates that this situation may be linked to the development of disc degeneration and hernias. Understanding this association can help reduce treatment and rehabilitation costs and prevent the potential loss of workability and quality of life resulting from a herniated disc. Consequently, additional comparative research on this topic is crucial.

Prevalence of Lumbosacral Transitional Vertebra in the Turkish Population: a Retrospective Study

Prevalence of Lumbosacral Transitional Vertebra in the Turkish Population: a Retrospective Study

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.

Oculoauriculovertebral Spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present genetic findings on a three-generation family affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant pattern. We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: KCND2, PDGFRA, CASP9, NCOA3, WNT10A, SIX1, MTF1, KDR/VEGFR2, LRRK1, and TRIM2 We performed parent and sibling-based transmission disequilibrium tests and burden analysis via a penalized linear mixed model, for segregation and mutation burden respectively. Next, via bioinformatic tools we predicted protein function, mutation pathogenicity and pathway enrichment to investigate the biological relevance of mutations identified. Rare missense mutations in SIX1, KDR/VEGFR2, and PDGFRA showed the best segregation with the OAV phenotypes in this family. When considering any of the 3 OAVS phenotypes as an outcome, SIX1 had the strongest associations in parent-TDTs and sib-TDTs (p=0.025, p=0.052) (unadjusted p-values). Burden analysis identified SIX1 (RC=0.87) and PDGFRA (RC=0.98) strongly associated with OAVS severity. Using phenotype-specific outcomes, sib-TDTs identified SIX1 with uni- or bilateral ptosis (p=0.049) and ear tags (p=0.01), and PDGFRA and KDR/VEGFR2 with ear tags (both p<0.01). SIX1, PDGFRA, and KDR/VEGFR2 are strongly associated to OAVS phenotypes. SIX1 has been previously associated with OAVS ear malformations and is co-expressed with EYA1 during ear development. Efforts to strengthen the genotype-phenotype co-relation underlying the OAVS are key to discover etiology, family counseling and prevention.

Letter to the Editor Regarding: “Redefining the Classification for Bertolotti Syndrome: Anatomical Findings in Lumbosacral Transitional Vertebrae Guide Treatment Selection”

Letter to the Editor Regarding: “Redefining the Classification for Bertolotti Syndrome: Anatomical Findings in Lumbosacral Transitional Vertebrae Guide Treatment Selection”

Bow hunter’s syndrome due to an anomalous right vertebral artery origin and contralateral absence: a case report and literature review

BackgroundBow Hunter’s syndrome (BHS), also known as rotational vertebral artery occlusion (RVAO), is a rare condition characterized by dynamic vertebrobasilar insufficiency due to position-dependent occlusion of the vertebral artery (VA). In the existing literature, most cases of BHS are attributed to osteophytic compression originating from the occipital condyle or within the transverse foramen, often accompanied by anatomical abnormalities of the VA. However, cases presenting solely with VA anomalies in the absence of any cervical vertebral structural abnormality are rare. This case report presents a unique instance of BHS in a 56-year-old male, attributed to the anomalous origin of the right VA and the absence of the left VA, without cervical structural abnormalities.Case presentationThe patient exhibited symptoms like episodic dizziness and vertigo, which were exacerbated by rightward head rotation and alleviated upon returning to a neutral position. Diagnostic evaluation, including digital subtraction angiography, revealed that the right VA originated from the right common carotid artery and compression-induced stenosis of the right VA during head rotation. Conservative management, including avoidance of certain head movements and anti-arteriosclerosis medication, led to symptom resolution over a two-year follow-up period.ConclusionsThis report contributes to the understanding of BHS by highlighting a rare vascular anomaly presentation and incorporates a review of 14 similar case reports in the literature describing that an anatomical abnormality of the VA is mainly responsible for the pathology of BHS in the absence of cervical vertebral anomalies, thus emphasizing the need for careful diagnostic and management strategies.