Vertebral Anomalies Research Articles

Congenital Dorsal Dermal Sinus, A Rare Entity: diagnosis and Management

Congenital dorsal dermal sinus is a rare occult spinal dysraphism. It may be associated with other cutaneous manifestations and spinal pathologies. Patients either presents with infection or neurological problems. We present a case presented with dorsal dermal sinus with discharging sinus with split cord with block vertebra with hypertrichosis and hairy melanocytic naevus. Bang. J Neurosurgery 2021; 11(1): 45-49

Quality-of-life and postoperative satisfaction following pseudoarthrectomy in patients with Bertolotti syndrome

BACKGROUND CONTEXTBertolotti syndrome is a clinical diagnosis given to patients with back pain arising from a lumbosacral transitional vertebra (LSTV). A particular class of LSTV involves a pseudoarticulation between the fifth lumbar transverse process and the sacral ala, and surgical resection of the pseudoarticulation may be offered to patients failing conservative management. Bertolotti syndrome is still not well understood, particularly regarding how patients respond to surgical resection of the LSTV pseudoarticulation. PURPOSETo examine change in quality-of-life (QOL) and patient satisfaction following surgical resection of the LSTV pseudoarticulation in patients with Bertolotti syndrome. DESIGNAmbidirectional observational cohort study of patients seen at a single institution's tertiary spine center over a 10-year period. PATIENT SAMPLECohort consisted of 31 patients with Bertolotti Syndrome who underwent surgical resection of the pseudoarticulation. OUTCOME MEASURESPreoperative and postoperative Patient-Reported Outcomes Measurement Information System Global Health (PROMIS-GH) Mental and Physical Health T-scores, and a single-item postoperative satisfaction questionnaire. METHODSPatients were identified through diagnostic and procedural codes. Immediate preoperative PROMIS-GH scores available in the chart were gathered retrospectively, and postoperative PROMIS-GH and satisfaction scores were gathered prospectively through a mail-in survey. RESULTSMean (SD) improvement of PROMIS-GH Physical Health T-score was 8.7 (10.5) (p<.001). Mean (SD) improvement of PROMIS-GH Mental Health T-scores was 5.9 (9.2) (p=.001). When stratifying PROMIS-GH T-scores by response to the patient satisfaction survey, there were significant group differences in mean change for Physical Health T-scores (p<.001), and Mental Health T-score (p=.009). Patients who stated, “The treatment met my expectations” had much greater mean improvement in the PROMIS-GH T-scores. CONCLUSIONSPatients undergoing a pseudoarticulation resection procedure may experience a significant improvement in quality-of-life as measured by PROMIS-GH Mental and Physical Health.

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic variants in MYH3. Twelve novel pathogenic variants in MYH3 (NM_002470.4) were identified: three of them were de novo or inherited in autosomal dominant way and nine were inherited in autosomal recessive way. The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions. All monoallelic variants caused significantly decreased SMAD3 phosphorylation, which is consistent with the previously proposed pathogenic mechanism of impaired canonical TGF-β signaling. Most of the biallelic variants were predicted to be protein-truncating, while one missense variant c.4244T>G,p.(Leu1415Arg), which was inherited in an autosomal recessive way, was found to alter the phosphorylation level of p38, suggesting an inhibition of the non-canonical pathway of TGF-β signaling. In conclusion, the identification of 12 novel pathogenic variants and overlapping phenotypes in 17 affected individuals from 10 unrelated families expands the mutation and phenotype spectrum of MYH3-associated skeletal disorders. We show that disturbances of canonical or non-canonical TGF-β signaling pathways are involved in pathogenesis of MYH3-associated skeletal fusion (MASF) syndrome.

Co-existence of spina bifida occulta and lumbosacral transitional vertebra in patients presenting with lower back pain.

Lower back pain is a common symptom, which is managed by various specialties including neurology, orthopedics, general medicine, and rheumatology. Lumbosacral transitional vertebra (LSTV) is an important cause of back pain, about which many clinicians are unfamiliar. It is a congenital malformation of the spine, which results from abnormal fusion of the sacrum with the vertebra above, to a variable extent. An extra joint is formed between the ala of sacrum and the elongated transverse process of the vertebra above on one or both sides. It leads to altered rotational movement of the lower spine, which gives rise to back pain.Spina bifida occulta (SBO) is another congenital malformation of the spine, which is detected incidentally because it does not cause any symptoms. We observed frequent co-existence of SBO and LSTV in patients attending our rheumatology clinic for lower back pain.

Condylus tertius: A review of a neglected developmental condition.

Condylus tertius (CT) is a developmental condition affecting the craniovertebral junction. Its prevalence was estimated to be less than 5% and can be asymptomatic or debilitating. This study aims to search for CT in the Coimbra Identified Skeletal Collection (CISC) and to do a bibliographic review of this neglected developmental defect. Two hundred individuals, from both sexes, and with ages at death between 30 and 59 years old from the CISC were observed macroscopically to search for CT. A bibliographic survey of the bioarcheological and clinical literature was conducted. One female individual (0.5%) had CT with irregular margins and porosity. In addition to the CT, the odontoid process of the axis had an increase in its retroversion angle and looked enlarged. The vertebra L1 showed hypoplasia of the right transverse process and the sacrum presented incomplete sacralization of the vertebra L5. In archaeological derived individuals only eight cases of CT were recognized in the literature survey, the oldest dating from the Pleistocene. This study draws attention to this trait and its diagnosis in skeletal individuals and alerts to the possible coexistence with other developmental defects in transitional vertebrae.

Hybrid Renal Cortical Imaging with Single Photon Emission Computerized Tomography/Computed Tomography in a Pediatric Patient with Severe Caudal Regression Syndrome

Caudal regression syndrome (CRS) or sacral agenesis is a rarely seen malformation with a varying degree of structural abnormalities, including multiorgan system dysfunctions, reported with higher incidence among children of mothers with diabetes, as in this case. Spinal anomalies can range from coccyx hemiagenesis to the total absence of lower lumbar vertebrae and sacrum in most severe cases. Herein, we have presented a 9-year-old patient with CRS who had renal failure. Technetium-99m dimercaptosuccinic acid renal scintigraphy revealed bilaterally non-functioning kidneys with no renal cortical uptake. Renal anomalies in CRS with vertebral, anorectal, cardiac, trachea-esophageal, renal, and limb anomalies association include one-sided renal agenesis, multicystic dysplastic kidneys, and ureter duplications.

Reliability of coeliac and superior mesenteric artery origin level in lumbosacral transitional vertebrae detection and vertebral numbering

Objective: To evaluate the value of coeliac artery (CA) and superior mesenteric artery (SMA) origin levels as an anatomic marker in the detection of lumbosacral transitional vertebrae (LSTV) and vertebral enumeration. Patients and Methods: Institutional review board approval was obtained. Routine lumbar magnetic resonance (MR) imaging that included sagittal cervicothoracic scout images in 972 cases were evaluated retrospectively. Six segments were created in the vertebral column with 7 lines. CA and SMA ostiums were localized in these segments. Results: Coeliac artery and SMA levels were detected more caudally in lumbarized S1 and more cranially in sacralized L5 cases compared to non-LSTV cases. Conclusion: Coeliac artery and SMA origin levels are not confidential in consequence of wide variability.

Combined Korean Medicine Treatment of Lumbosacral Transitional Vertebra with Localized Bone Marrow Edema: A Case Report

Jiwon Chai, K.M.D., Yunha Lee, K.M.D., Dongjoo Choi, K.M.D., Sang-joon An, K.M.D., Hyunjin Choi, K.M.D., Sengyoon Hwangbo, K.M.D., Hyekyung Baek, K.M.D.. J Korean Med Rehabi 2021;32:125-31. https://doi.org/10.18325/jkmr.2022.32.1.125

Part II of Finnish Agility Dog Survey: Agility-Related Injuries and Risk Factors for Injury in Competition-Level Agility Dogs.

Simple SummaryAgility dogs can get injured during sports performance. Only a few factors have been linked to risk for injury. Through an online questionnaire, information was collected of more than 860 Finnish competition-level agility dogs. Of these dogs, 119 (14%) had suffered an injury in agility during calendar year 2019. Front limbs were most commonly injured. Typically, the injury presented as lameness. In general, dogs regained their performance level in four weeks, but 10% of injured dogs retired from the sport due to the injury. Dogs with multiple previous agility-related injuries or a diagnosis of lumbosacral transitional vertebra had higher odds of getting injured. Other common factors among the injured dogs included older age when starting course-like training and more than two agility-training sessions a week. A moderate number of monthly competition runs and an A-frame performance technique had lower odds of injury. This study identified new risk factors for injury in agility. This information can be used to improve the welfare of agility dogs.Dog agility is associated with a risk for sport-related injuries, but few risk factors for injury are known. A retrospective online questionnaire was used to collect data on 864 Finnish competition-level agility dogs—including 119 dogs (14%) with agility-related injury during 2019. Data included injury details, health background, experience in agility, and sport and management routines prior to the injury. Risk factors for injury were evaluated with multivariate logistic regression. The rate of competition-related injuries was 1.44 injuries/1000 competition runs. The front limb was injured in 61% of dogs. In 65% of dogs, the injury presented as lameness. The main risk factors for agility-related injury during 2019 were multiple previous agility-related injuries (OR 11.36; 95% CI 6.10–21.13), older age when starting course-like training (OR 2.04 per one year increase; 95% CI 1.36–3.05), high training frequency, diagnosis of lumbosacral transitional vertebra, and physiotherapy every two to three months compared with never. The most important protective factors were moderate competition frequency and A-frame performance technique. These associations do not confirm causality. We identified new risk factors for injury in agility. This information can be used to improve the welfare of agility dogs.

Approach-related anatomical differences in patients with lumbo-sacral transitional vertebrae undergoing lumbar fusion surgery at level L4/5

IntroductionLumbo-sacral transitional vertebrae (LSTV) are accompanied by changes in soft tissue anatomy. The aim of our retrospective study was to evaluate the effects of LSTV as well as the number of free lumbar vertebrae on surgical approaches of ALIF, OLIF and LLIF at level L4/5.Material and methodsWe assessed the CTs of 819 patients. Of these, 53 had LSTV from which 11 had six (6LV) and 9 four free lumbar vertebrae (4LV). We matched them for sex and age to a control group.ResultsPatients with LSTV had a higher iliac crest and vena cava bifurcation, a greater distance between the common iliac veins and an anterior translation of the psoas muscle at level L4/5. In contrast, patients with 6LV had a lower iliac crest and aortic bifurcation, no differences in vena cava bifurcation and distance between the iliac veins compared to the control group.ConclusionsFor patients with LSTV and five or four free lumbar vertebrae, the LLIF approach at L4/5 may be hindered due to a high riding iliac crest as well as anterior shift of the psoas muscle. Whereas less mobilization and retraction of the iliac veins may reduce the risk of vascular injury at this segment by ALIF and OLIF. For patients with 6LV, a lower relative height of the iliac crest facilitates lateral approach during LLIF. For ALIF and OLIF, a stronger vessel retraction due to the deeper-seated vascular bifurcation is necessary during ALIF and is therefore potentially at higher risk for vascular injury.

Transizyonel vertebra tanısında grafilerin birlikte değerlendirilmesi

AİM: Full vertebral scanning and counting from C2 inferiorly is the gold standard for the lumbosacral transitional vertebrae (LSTV) diagnosis. We aimed to investigate the use of a posteroanterior chest radiograph (CRXPA) and direct urinary system graph (DUSG) combination, which would provide lower dose radiation exposure in LSTV diagnosis.&#x0D; MATERIALS &amp; METHOD: CRX PA and DUSG of 327 patients were examined by 2 radiologists. Both of the x-ray graphs have been interpreted by the radiologist to detect existing LSTV. Scoliosis graphs were conducted of all 327 patients to detect LSTV&#x0D; RESULTS: The performance accuracy of DUSG for the diagnosis of LSTV, we have observed that it provided true positive results in 117 of the 120 subjects and false-negative in 3 subjects. It could detect 163 of the 207 subjects as true negative and the remaining 44 individuals as false positive. When we have evaluated the diagnostic performance of DUSG and CRX PA together we have observed that it provided true positive results in 119 of the 120 subjects and false-negative in 1 subject. It could detect 167 of the 207 subjects as true negative and the remaining 40 individuals as false positive.&#x0D; CONCLUSION: The accurate diagnosis of LSTV is highly important as any misleading information can lead to inappropriate surgery or invasive procedure. The sensitivity of interpretation of CRX PA and DUSG together has been found as 97.6% and the specificity as 80.6%.

A case report on penile duplication: A rare congenital anomaly

Introduction: Penile duplication or penile diphallia is a rare congenital anomaly that is mainly associated with renal, anorectal or vertebral anomalies, that is, spina bifida. This condition was first described by Johannes Jacob Wecker in 1609 in Italy. Problem: Its incidence is extremely rare, about one in millions. The aetiology of this condition is unknown up till now; however, it is considered that defect of genital tubercle leads to the formation of diphallia. Methods: The condition is diagnosed clinically, and management depends on the appearance of genitalia and the associated anomalies as well as after taking into account the social and ethical considerations. Most of the time, management involves surgical incision of the non-functioning penis. Results: In this case report, a child of age 10 years presented with double penis since childhood. The child was evaluated clinically and radiologically for any other associated abnormalities, and his non-functional urethra was surgically removed. Level of evidence: Level IV

Morphological Variations of Sacrum in Adult Indian Population

Introduction: The sacrum is considered as a highly variable bone. Several morphological variations have been documented which exhibit differences in the frequency of occurrence and morphological characteristics in various study populations. Variant anatomy of the sacrum may be associated with backache, enuresis, neurological anomalies of the lower limb and functional disorders of lower urinary tract. Purpose: The purpose of this study was to identify and describe morphological variations of sacrum in Indian population and enable comparison with different populations. Materials and Methods: The study was conducted on 108 dry adult human sacra and morphological characteristics and variations were noted. Results: Sacral skewness was observed in 7.4% sacra with right sided skewness being predominant. The presence of accessory auricular surface (AAS) was noted in 13% sacra which was at the level of S3 vertebra in most sacra. Spina bifida (SB) was observed in 11.1% sacra and it was most commonly located at S1 vertebral level. Furthermore, the lumbo-sacral transitional vertebra (TV) was documented in 10.2% sacra. Conclusions: Sacrum displays numerous variations in Indian population such as skewness, AAS, SB and TV. Thorough knowledge of morphological characteristics and variations of sacrum is vital and should be contemplated during diagnosis and treatment of sacrum-related diseases. KEY WORDS: Accessory auricular surface, Spina bifida, Transitional vertebra, Sacral skewness, Variations.

A case report of severe scoliosis in a boy with goldenhar syndrome

Goldenhar syndrome is a condition comprising various congenital anomalies of structures developing from the first and second branchial arches. Classically, it includes impaired development of structures such as eyes, ears, lips, tongue, palate, mandible, maxilla, and vertebral anomalies. The etiology for this syndrome is not clear; however, genetic and many other causes have been described for the development of the abovementioned anomalies. A 13-year-old boy presented with deformity of the back since birth, which is gradually progressing, now causing difficulty in breathing on exertion. Parents give a history of anomalies of the eyes, ear, face, and deformities of the neck and chest since birth. X-ray, computed tomography, and magnetic resonance imaging of the spine showed severe congenital scoliosis with multiple vertebral and rib anomalies with no intraspinal anomalies or spinal cord malformations. Posterior scoliosis correction and fusion with convex side costoplasty were performed after a detailed preoperative workup in view of syndromic etiology. Postoperatively, the boy was stable and the check X-ray showed satisfactory deformity correction. Severe scoliosis with Goldenhar syndrome always throws a challenge to treating spine surgeons as they are associated with multiple other regional and systemic abnormalities. A detailed examination, preoperative clinical and radiological workup, and proper planning are very much essential in treating these deformities.

Analysis of unfavorable postoperative outcomes in patients with lumbosacral junction anomalies

The absence of a unified diagnostic approach and heterogeneous treatment strategies in patients with lumbosacral transitional vertebra contribute to registration of contradictory data on postoperative outcomes in these patients. A retrospective analysis of postoperative outcomes in patients with degenerative lumbar spine diseases associated with lumbosacral junction anomalies and causes of unfavorable results. Lumbosacral transitional vertebra was preoperatively verified and classified according to Castellvi A.E. in 352 cases between 2007 and 2017. Full-time examination, phone and e-mail survey covered 314 (89.2%) patients throughout 5.2-year follow-up period. There were unfavorable clinical outcomes in 42 cases. We analyzed the causes of these results and relationship of surgical strategy with the type of lumbosacral junction anomaly. Lumbosacral transitional vertebra Castellvi type IIA (30.9%) and IIIA (34.9%) prevailed. Unfavorable outcomes occurred in 7 cases after percutaneous interventions, in 12 patients after decompression surgery and in 23 patients after decompression and stabilization procedures. In all cases (n=42), redo surgery was performed: rigid fixation or extension of stabilization system in 16 cases, additional intracanal decompression in 10 patients, foraminal/extraforaminal decompression in 8 patients. Seven patients underwent repeated laser denervation. Of these, 5 patients underwent dorsal decompression without discectomy due to ineffective denervation. Correlation analysis showed the relationship between unfavorable outcomes after percutaneous procedures with LV transverse process dysplasia and sacralization, decompressive interventions with additional articular joints and lumbarization, decompression/stabilization procedures with LV transverse process dysplasia and sacralization. Unfavorable outcomes occurred after percutaneous interventions for anomaly type IB and IIIB, decompressive procedures for anomaly type IIA, IIB and IV, decompression/ stabilization procedures for types IA and IIIA. It is the first report devoted to analysis of relationships between unsatisfactory postoperative outcomes, surgical technique and type of lumbosacral dysgenesis.

Extension-Distraction Spine Injury at Lumbosacral Junction: A Case Report

Case: We presented a case of extension-distraction spine injury at lumbosacral junction in a patient with fused spine concomitant with a lumbosacral transitional vertebra. Detail of an exceedingly rare case of traumatic lumbosacral hyperextension-distraction fracture in the individual was described and reviewed. Conclusion: Although the occurrence of extension-distraction spine injury at lumbosacral junction is extremely rare, it can occur in some circumstances. Application of damage control spine concept including early definitive stabilization of spine fractures and minimally invasive spine surgery can give satisfactory outcomes in the polytraumatized patient.

Successful Surgical Treatment for Gait Disturbance with Lumbosacral Transitional Vertebrae through a Posterior Approach―A Case Report―

Successful Surgical Treatment for Gait Disturbance with Lumbosacral Transitional Vertebrae through a Posterior Approach―A Case Report―

Anaesthetic Management in a Patient of Goldenhar Syndrome Posted for Drainage of Brain Abscess with External Ventricular Drain Insertion

Goldenhar syndrome or Oculo-auricular Vertebral Dysplasia (OAVD) is characterized by a wide range of congenital anomalies including ocular, auricular, facial, cranial, vertebral and cardiac abnormalities. Facial and oral abnormalities especially mandibular hypoplasia, micrognathia, high arch palate and limitation of neck movements resulting from vertebral anomalies, the difficult intubation, laryngoscopy and mask ventilation were expected. Hereby, presenting the case report of a 6-year-old male child, known to have goldenhar syndrome, who underwent drainage of left sided brain abscess with external ventricular drain insertion. In view of the anticipated difficult airway and cardiac anomalies, careful preoperative evaluation, preparation and well formulated contingency plans for airway maintenance, endotracheal intubation and intraoperative haemodynamic is required to combat the perioperative anaesthetic challenges in all cases of goldenhar syndrome.

Management of microspherophakia and angle-closure glaucoma in Goldenhar syndrome

Goldenhar syndrome is a congenital craniofacial syndrome, and the classical triad includes epibulbar dermoid, preauricular skin tags, and vertebral anomalies. The association between glaucoma and Goldenhar syndrome has been sparsely reported in literature as case reports. We describe a rare presentation of bilateral microspherophakia and secondary angle-closure glaucoma in a 29-year-young male with Goldenhar syndrome. To the best of our knowledge, this is the first case report describing the association between microspherophakia and Goldenhar syndrome.

Outcome of Surgical Management in Lumber Disc Prolapse: A Study in Dhaka Medical College Hospital, Dhaka, Bangladesh

A disc herniation is the term given to any uneven out-pouching or bulging of the posterior region (back region) of the intervertebral disc as seen on MRI. The bigger the lumbar/sacral disc herniation, the more likely it is to cause back and/or leg pain--the latter of which is called sciatica1. The aim of this study was to evaluate the surgical outcome in the treatment of Lumber Disc Prolapse (LDP). The prospective interventional study (Quasi experimental) was done in the Department of Orthopedics and Traumatology, Dhaka Medical College and Hospital during the period of June 2009 to July 2011(2 years). Due to time limitation and financial constraint only 35 cases were selected during study period but out of them 29 cases were feasible to be included in the study, remaining 6 cases were lost during follow up. Patients of both sexes aged between 18-70 years with prolapsed lumber intervertebral disc admitted in the Department of Orthopedics and Traumatology were included as purposive sampling. Data was entered, coded, cleaned, and analyzed by using Statistical Package for Social Science (IBM SPSS), version 20. In our study we found, Clinically 17(58.6%) of patients had weakness in extensor hallucis longus (EHL) and 3(10.3%) of patients had weakness in flexor hallucis longus (FHL). 14(48.3%) of patients had sensory deficit over the distribution of L5 nerve root and 6(20.7%) had S1 nerve root. In X-ray there were 6 transitional vertebra and loss of lumbar lordosis was in 20 patients. MRI shows 20(62.5%) of patients had posterolateral disc bulge and 12(37.5) had posterior disc bulge. In majority of patients (65.5%) of patients had disc prolapse at level L4-L5. 53.7% of patients had left sided disc prolapse. Peroperatively seen that 62.5% of the patients had posterolateral disc prolapse and 37.5% patients had central disc prolapse. There were only 10.3% of patients had complications. Among these 6.9% had per operative dural tear and 3.4% developed discitis. At the final follow up most of the patients were pain free. All patients had absence of muscle spasm. No patients had restriction of mobility. Most of the patients regaining their straight leg raising in between 60-90 degree. The overall result of surgery was encouraging. Relief of symptoms occurred in 28 (96.6%) of patients. Out of 35 patients 40% of patients returned to work within 3 weeks of operation and 46.6% patients returned to work within 6 weeks of operation but rest of the cases still did not return to their previous work due to pain.