Tethered Cord Syndrome Research Articles

Proteomic study of cerebrospinal fluid in adult tethered cord syndrome: Chemical structure and function of apolipoprotein B.

Adult tethered cord syndrome (ATCS) has a hidden onset and delayed clinical symptoms. The purpose of this study is to identify hub proteins in the cerebrospinal fluid of ATCS patients through bioinformatics analysis, and to find significant heterogeneity in these proteins between ATCS patients and non ATCS patients (control group). Firstly, differential genes were screened based on proteomic results. Compared with the control group, 18 differentially expressed proteins were upregulated and 18 differentially expressed proteins were downregulated in the cerebrospinal fluid of ATCS patients. Then, GO, KEGG, and GESA functional enrichment analysis showed that ATCS patients were active in biological processes such as coagulation, inflammatory response, and regulation of humoral immune response, suggesting the possibility of spinal cord injury. In addition, protein network interaction analysis indicates that APOB, APOC3, FGA, and FGG are defined as hub proteins. The correlation between ATCS patients and immune characteristics was analyzed using the CIBERSORT algorithm, which may have generated a unique immune microenvironment. Finally, Western blotting was used to experimentally validate APOB, APOC3, FGA, and FGG. The results showed that APOB, APOC3, FGA, and FGG were upregulated in the cerebrospinal fluid of ATCS patients and had an important impact on the repair and functional maintenance of spinal cord injury. They can be used as key proteins for early and accurate diagnosis and treatment of spinal cord thrombosis syndrome, and suggest that the spinal cord of ATCS patients may be damaged, which can serve as potential therapeutic targets.

Effect of early tethered cord release on urodynamic findings and lower urinary tract function in myelomeningocele patients.

Detecting neurological deterioration and diagnosing tethered cord syndrome (TCS) in patients with myelomeningocele (MMC) can be challenging due to the presence of symptoms at birth and the lack of objective indicators. This retrospective analysis focused on urological manifestations and evaluated whether tethered cord release (TCR) for TCS at an early stage could improve or stabilize video urodynamic study (VUDS) findings and lower urinary tract function. This study analyzed 55 of 64 children who underwent MMC repair at Miyagi Children's Hospital, Sendai, Japan, between 2003 and 2016. The follow-up duration for these children exceeded 6 years. Clinical records were reviewed, and surgical indicators and outcomes of TCR and preoperative and postoperative results of VUDS were evaluated. The duration of follow-up was mean ± SD (range) 12.6 ± 3.5 (6.0-19.0) years. TCR was performed on 27 (49.1%) of 55 patients with MMC, totaling 33 procedures. Five patients underwent 2 TCR procedures, whereas 1 received 3 TCR procedures. The mean ± SD (range) age was 7.5 ± 2.9 (2.2-12.7) years at the first TCR procedure (n = 27) and the mean (range) was 10.9 (10.1-11.7) years at the second TCR (n = 5); in addition, 1 patient underwent a third TCR procedure at age 15.9 years. There were no identified risk factors associated with the TCS. The first TCR procedure was performed due to worsened lower-extremity (LE) motor symptoms in 1 patient, worsened LE sensory symptoms in 3 patients, and worsened VUDS findings in 26 patients. After the procedure, LE motor symptoms improved in 1 patient (100%), LE sensory symptoms improved in 2 patients (66.7%), and VUDS findings improved in 18 patients (66.7%). Preoperative VUDS revealed urological deterioration characterized by a high-pressure bladder, reduced bladder capacity, increased detrusor overactivity (DO), and vesicoureteral reflux. Postoperative VUDS showed improvements in bladder function, including decreased bladder pressure and DO, increased bladder capacity, and compliance. None of the patients underwent augmentation cystoplasty or had renal dysfunction. Routine VUDS can detect urological deterioration, which can be a significant indicator for early diagnosis of TCS. Performing TCR at an early stage is beneficial, not only to protect renal function but also to improve VUDS findings and lower urinary tract function in patients with MMC. It is important to explore a standardized approach for the diagnosis and treatment of TCS.

Diagnosis and Treatment of Tethered Spinal Cord: A Systematic Review.

Tethered cord syndrome is associated with motor and sensory deficits. Our objective was to summarize evidence regarding the diagnosis, prophylactic surgery, symptomatic treatment, and repeat surgery of tethered spinal cord in a systematic review (CRD42023461296). We searched 13 databases, reference-mined reviews, and contacted authors to identify diagnostic accuracy studies and treatment studies published until March 2024. One reviewer abstracted data, and a content expert checked the data for accuracy. We assessed the risk of bias, strength of evidence (SoE), and applicability. The evidence base includes 103 controlled studies, many with risk of bias and applicability concerns, and 355 case series providing additional clinical information. We found moderate SoE for MRI diagnosing tethered spinal cord, with medium to high diagnostic sensitivity and specificity. A small number of prophylactic surgery studies suggested motor function benefits and stability of neurologic status over time, but also complications such as surgical site infection (low SoE). A larger body of evidence documents treatments for symptomatic patients; studies revealed improvement in neurologic status after surgical detethering (low SoE), but also postoperative complications such as cerebrospinal fluid leakage (moderate SoE). A small body of evidence exists for retethering treatment (low or insufficient SoE for all outcomes). There was insufficient evidence for key outcomes (eg, over- or undertreatment, clinical impact of diagnostic modalities, ambulation, quality of life). This comprehensive overview informs difficult clinical decisions that parents and their children with tethered spinal cords, as well as their health care providers, face.

Particularities of spasticity in myelomeningocele patients.

Myelomeningocele (MMC), a congenital neural tube defect, is the most common developmental anomaly of the central nervous system (CNS). Spasticity is among the main disabling factors in these patients, affecting up to 1/5 of children. The purpose of this article is to review the current knowledge regarding spasticity in MMC patients, mainly focusing on its manifestations and management. A literature search was conducted using the PubMed database for the terms "myelomeningocele" and "spasticity." Data were collected by 5 independent investigators and then synthesized in a scoping format. Causes of spasticity in these patients include hydrocephalus, tethered cord syndrome (TCS), syringomyelia, CNS infection, and associated congenital brain and spine anomalies. Clinical manifestations include limb spasticity and neurogenic bladder. Spasticity primarily affects muscles below the neurological level and contributes to gait impairment. Besides walking ability, spasticity also severely affects functional mobility in general, self-care, and quality of life. The majority of MMC patients experience neurogenic bladder. Treatment of spasticity can be symptomatic or target its cause. Medical and surgical options are available for both limb and bladder spasticity. Regular physiotherapy and orthotics are used to prevent contractures and the early introduction of orthoses is the cornerstone of a gait training program. Neurosurgical treatment options for spasticity include nonablative and ablative procedures such as selective dorsal rhizototmy. The urodynamic pattern guides treatment strategies, with intermittent catheterization being the best treatment option for patients with underactive detrusor and overactive sphincter muscles. Given the particularities of spasticity in MMC patients, a multidisciplinary team approach and early rehabilitation programs are keys for their optimal management.

Do Not Forget the Spine MRI in Children With Arthrogryposis Multiplex Congenita: High Prevalence of Tethered Spinal Cord and Preliminary Clinical Findings Following Detethering.

Arthrogryposis multiplex congenita (AMC) encompasses congenital conditions with joint contractures in 2 or more joints. Patients with AMC may have scoliosis and neural axis malformations. The study aimed to determine the prevalence of tethered spinal cord (TSC), characterized by a low-lying conus medullaris, and secondarily, present preliminary findings following surgical untethering in children with AMC. Patients 18 years of age and younger with a diagnosis of AMC and a spine MRI were identified. The presence of a TSC was defined as a low-lying conus with termination at or below the lower third of the L2 vertebral body. A pediatric neurosurgeon and a pediatric orthopaedic surgeon independently reviewed MRIs. The medical records of patients with AMC who underwent untethering were examined to evaluate preoperative and postoperative clinical findings. The prevalence of TSC in our AMC patients was compared with published normative data using χ2 analysis. Forty-two of 105 AMC patients (40%) had TSCs. There was a greater percentage of patients with AMC and a TSC compared with the unaffected population (P<0.0001). Sixteen patients underwent detethering through filum terminale sectioning. Nine patients had preoperative neurological deficits in addition to their AMC. There were no postoperative complications. All patients had improvement in their bowel and bladder symptoms within 3 months after their detethering procedure. TSC is more prevalent in the pediatric population with AMC compared with those without AMC. MRI is recommended for all patients with AMC due to its high prevalence. Although not a benign procedure, surgical detethering may have potential benefits for children with AMC. Level IV-therapeutic study.

Tethered cord prevalence among patients with prenatal or postnatal myelomeningocele repair.

Myelomeningocele (MMC) is a severe form of spina bifida characterized by spinal cord extrusion into a cerebrospinal fluid (CSF) filled sac which may lead to lifelong disability. Repair of these lesions have classically occurred shortly after birth, but more recently, prenatal myelomeningocele repair techniques have been elucidated. This study aimed to investigate the outcome of surgery, particularly with subsequent spinal cord tethering, in patients with prenatal myelomeningocele closure and those with postnatal repair surgery. In this retrospective study which assessed patients from April 2002 to April 2020, the data of 18 total patients with MMC were reviewed. Nine patients from each group were included, closed prenatally or postnatally, respectively. Demographic information including age and sex, birth week, infant comorbidities, presence of dermoid or lipoma, cutaneous stigmata, total number and timing of detethering procedures, presence of Chiari malformation, and need for VPS was obtained. Eighteen patients including nine infants closed prenatally and nine infants with myelomeningoceles closed postnatally were reviewed. The mean age was 4 ± 3years and 6.22 ± 2.4 in prenatal and postnatal retrospectively. There was a significant relationship between the number of detethering procedures (p-value = 0.03) and the need for a ventriculoperitoneal shunt (VPS) (p-value = 0.01) between the groups, with the prenatal closure group having lower rates of each. There was no significant difference between the groups in regard to the mean age at the detethering procedure (p = 0.4), sex (p = 0.09), birth week (p = 0.8), comorbidities (p = 0.8), presence of intraspinal dermoid or lipoma (p = 0.09), presence of cutaneous stigma (p = 0.08), Chiari (p = 0.6), fatty filum (p = 0.08), syrinx (p = 0.4), bone anomaly (p = 0.4), and spina bifida neurological scale (p = 0.66). There was a significant relationship between the two groups in terms of the number of detethering procedures, and the need for VPS. Our data represents a possible difference in the need for detethering surgeries and ventriculoperitoneal shunt placements between patients with prenatal and postnatal myelomeningocele closures.

Clinicoradiological, pathological, and surgical outcome in patients with tethered cord syndrome: A prospective study

Background: Tethered cord syndrome (TCS) is a stretch-induced functional disorder of the spinal cord in which the caudal part is anchored by an inelastic structure. It is believed that, if the viscoelasticity of the filum is lost or compromised by either fatty infiltration or abnormal thickening, caudal tension and traction may cause undue stress upon the conus, resulting in TCS. It typically occurs in children, and it is rare in adults. Aims and Objectives: The study was conducted to know the clinicoradiological, pathological, and surgical outcomes in patients with TCS. Materials and Methods: This is a prospective observational study done in the premier institute of central India from May 2022 to April 2024. This study included patients who exhibited clinical and/or radiological features of congenital tethered cords. This encompassed both patients with tethered cord and those with TCS. Patients who failed to give consent and refused to participate in the study were excluded from the study. Results: A total of 30 patients were recruited for the study. The median age of the patients was 6–12 months (range). The gender distribution M:F was 63.3:36.6. Based on 30 cases studied, most of the patients (75%) had improvement in urinary symptoms, 57.1% of patients had improvement in bowel symptoms, 80% of patients had improvement in pain symptoms, 75% had improvement in motor deficit, and 83.3% had improvement in sensory deficit. Conclusion: Our prospective, cross-sectional study aimed at complete detethering of the spinal cord and the nerve roots along with excision of filum terminale and dural reconstruction to maintain adequate cerebrospinal fluid space around the spinal cord to prevent retethering.

Morphometric analysis of the spinal cord in patients undergoing posterior vertebral column subtraction osteotomy for recurrent tethered cord syndrome.

In posterior vertebral column subtraction osteotomy (PVCSO), a section of a thoracic or lumbar vertebra and the adjacent disc are resected to shorten the spinal column, aiming to permanently alleviate tension on the spinal cord in patients with recurrent tethered cord syndrome (TCS). The effects of this procedure on the spinal cord are not well characterized. This study investigated morphometric changes in the cord following PVCSO and assessed associated clinical outcomes in patients with recurrent TCS. A retrospective review of patients with recurrent TCS undergoing PVCSO with robotic assistance at the authors' tertiary care institution between 2019 and 2023 was performed. Clinical data were recorded from electronic medical records, and morphometric measurements, including T12-L2 sagittal height, intradural diameter, and the diameters, area, eccentricity, and positioning of the spinal cord, were collected from MRI. Spinal cord dimensions including anteroposterior and lateral diameters, area, eccentricity, positioning, and intradural diameter were compared before and after surgery. Six patients were included in this study. At 6-week follow-up, all patients had improvement on lower-extremity motor function examinations, 40% had improvement on lower-extremity sensory function examinations, and 83% had improved self-reported pain. Bladder and bowel incontinence were improved in 50% and 60%, respectively. PVCSO reduced the height of the spinal column by a mean of 18.1 ± 5.2 mm. PVCSO increased the mean spinal cord anteroposterior diameter by 0.8 ± 0.5 mm at T12 (p = 0.03) and the mean area by 0.4 ± 0.3 mm2 at T12 (p = 0.03). The mean eccentricity of the spinal cord decreased by 0.15 ± 0.15 at L1 (p = 0.05), indicating that the spinal cord became more circular after surgery. No major complications were reported, although 1 patient experienced atelectasis and pulmonary embolism postoperatively. This study provides novel insights into the morphometric changes induced by PVCSO and their correlation with clinical outcomes in patients with TCS. The procedure effectively increased spinal cord dimensions, alleviating tension and offering potential benefits in symptom relief. The study underscores the need for objective metrics to guide surgical decision-making and enhance the long-term success of PVCSO in the management of TCS.

Predictors of postsurgical retethering in pediatric fatty or tight filum terminale: a systematic review and meta-analysis of 1167 patients.

The objective of this study was to characterize pediatric patients with tight filum terminale (TFT) or fatty filum terminale (FFT) who experienced retethering after transection of the filum, and to determine the risk factors for retethering. A systematic review was conducted on May 31, 2023, using PubMed, Google Scholar, SCOPUS, and Web of Science databases according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to identify studies detailing retethering following transection for TFT or FFT. Studies were then screened using the Newcastle-Ottawa Scale for risk of bias assessment. Eleven articles met the inclusion criteria with an overall cohort of 1167 patients evaluated for retethering following transection for TFT or FFT. The combined retethering rate across all retrospective studies was 3.4% (95% CI 1.6%-5.2%). A random-effects model was used to estimate the prevalence of presenting symptoms, with the most common being lower-extremity weakness in the overall cohort (54.5%, 95% CI 32.6%-76.4%) and bowel or bladder dysfunction in the retethered cohort (57.9%, 95% CI 41.1%-74.8%). Patients who experienced retethering had a similar estimated prevalence of low-lying conus (71.1%, 95% CI 45.1%-97.1%) compared with the overall cohort (51.1%, 95% CI 39.3%-63.0%). The most common complication following surgery for the overall cohort was a wound complication (2.7%, 95% CI 0.8%-4.6%). Postoperative CSF leakage (OR 13.8, 95% CI 3.9-49.4) was a strong predictor of retethering. Sensory changes at initial presentation were also found to be a predictor of retethering (OR 2.9, 95% CI 1.3-6.5). Low-lying conus was not predictive of retethering. Preoperative sensory changes and postsurgical CSF leakage were associated with an increased retethering rate following transection of the filum in cases of tethered cord syndrome secondary to fatty filum terminale.

Suprapubic vesicostomy buttons: Indications, complications and bladder outcomes

IntroductionVesicostomy button drainage is a recognised alternative to clean intermittent catheterization (CIC) in children with urethral obstruction, sensate urethra or neurological/ behavioural issues. AimTo report the indications, complications and long-term bladder functional outcomes in a 15-year cohort of patients with button vesicostomy. Materials and MethodsAMT Mini one gastrostomy buttonR was inserted via a surgical vesicostomy, or percutaneously under cystoscopic guidance. Retrospective data included demographics, indications, complications, and long-term bladder capacity/ emptying pre-post-button removal. Results29 children (23 males) underwent vesicostomy button insertion at 3.5 (0.5-14.5) years. Diagnosis was neurogenic (11), bladder outlet obstruction (9), cloaca/urogenital sinus (3), anorectal malformation (ARM) (2), other bladder dysfunction (3) and diversion (1). There were no short-term complications. UTI occurred in 31%, leakage in 28% and blockage in 7%. At a median of 10 (2-18) years, 14 (48%) are still on button drainage; 6 (21%) progressed to Mitrofanoff catheterisation. In 9 (31%) who no longer require the button, all children were able to void urethrally, with good emptying, at 4.5 (1- 7) years follow-up. DiscussionContinent vesicostomy allows toilet-training and improved quality of life. We estimated that the cost of a button vesicostomy and tubing approximates £1502 per year. 5-6 Speedicaths per day (costing £38 per pack) cost £2772 per year. Asymptomatic bacterial colonisation does not require antibiotic treatment; it is best avoided by changing the button every 12 weeks. Symptomatic febrile UTI’s are commonly secondary to the underlying pathology; we recommend changing the button half-way through the antibiotic treatment course. Leakage was managed by increasing the water in the balloon. Button blockage, commonly due to balloon encrustation, is preventable by regular button changes.Button drainage may be temporary (until bladder dysfunction resolves, or changed to a Mitrofanoff), or a long-term (in life-long neuro-developmental/ behavioural issues). The button was no longer required in 9: bladder function improved post spinal cord un-tethering in 3; 2 PUV; 2 ARM; 1 myopathy and 1 diversion. Of note, the button did not appear to affect bladder dynamics with sustained resolution of bladder dysfunction in 31%.Our main limitation was diversity of pathologies, making comparison of urodynamics more challenging: a larger study with more numbers in each patient group would be the next step. ConclusionSuprapubic buttons are a safe second-line bladder drainage option in patients who are unable to CIC. The technique may be a temporary solution where bladder dysfunction may resolve, or until the child is ready for catheterisation via a Mitrofanoff.

Incidence of Tethered Cord Syndrome in Pediatric Patients With Neurofibromatosis Type 1

ObjectiveThe link between Tethered Cord Syndrome (TCS) and Neurofibromatosis Type 1 (NF1) remains unclear. To date, only two studies have indicated a high occurrence of TCS in the pediatric NF1 patient population. Our study aims to ascertain the incidence of TCS among Chinese pediatric patients with NF1. MethodsA single-institution, 8-year retrospective analysis at a tertiary-level children's hospital was conducted for patients with NF1 who underwent surgery for TCS. The clinical features, imaging characteristics, genetic testing outcomes, and histopathological findings of pediatric NF1 patients with TCS were analyzed. ResultsDuring the study period, a total of 115 pediatric patients were diagnosed with NF1. Among these 115 NF1 patients, 11 individuals, accounting for 9.6% of the sample, were confirmed to have TCS. This rate of occurrence is significantly higher than the incidence rate of TCS in the general population, which stands at 0.17%. All 11 of the pediatric NF1 patients underwent surgery for TCS. Out of the 11 patients who were advised to have tethered cord release surgery, 4 (which is 36.4%) were girls, and the average age of these 11 patients was 8.6 years old, with ages ranging from 2 to 17 years old. The conus medullaris position of the 11 pediatric NF1 patients ranged from L1 to L2, and 10 of them (91%) had a filum terminale lipoma, characterized by high signal intensity on T1-weighted magnetic resonance (MR) images. Another patient was diagnosed with Occult Tethered Cord Syndrome (OTCS). All 11 pediatric NF1 patients exhibited symptoms associated with TCS, such as neuromotor dysfunction, abnormalities in urination, defecation, skeletal system abnormalities, or pain. Eight of the 11 pediatric NF1 patients had undergone genetic testing, which is a crucial part of the diagnostic process for NF1. The histopathological examination of the 11 pediatric NF1 patients who underwent surgery revealed that 10 patients had fatty infiltration of the filum terminale (FT), while the remaining patient exhibited fibrosis of the filum terminale (FT). ConclusionsIn the group of pediatric patients with NF1, the incidence of TCS, presenting to the pediatric neurosurgery clinic for any reason, is significantly higher than that of the general population. However, the pathophysiological relationship between NF1 and TCS is still not clear. It is essential to provide counseling to NF1 patients and their families about the symptoms of TCS to make sure they are aware and can seek the necessary care when needed. This underscores the importance of not only diagnosing NF1 but also staying alert for related conditions like TCS, which may have a higher occurrence in this demographic.

Anorectal physiology and colonic motility in children with a history of tethered cord syndrome.

The understanding of the impact of tethered cord syndrome (TCS) on the physiology of the colorectal area is limited. Our aim was to describe anorectal and colonic motility in children with TCS and compare the findings to those of children with functional constipation (FC). We conducted a retrospective review of children with TCS who had an anorectal manometry (ARM) performed at our institution from January 2011 to September 2023. We recorded demographics, medical and surgical history, clinical symptoms, and treatment at time of ARM, ARM findings (resting pressure, push maneuver, rectal sensation, rectoanal inhibitory reflex [RAIR], and RAIR duration), and the final interpretation of colonic manometry (CM) if performed. We identified age and sex-matched control groups of children with FC. We included 24 children with TCS (50% female) who had ARM testing (median age at ARM 6.0 years, interquartile range 4.0-11.8 years). All children had constipation at time of ARM. Nineteen children had detethering surgery before ARM was performed. No significant differences in ARM parameters were found between children who had detethering surgery before ARM and children with FC. Among the 24 children, 14 also had a CM performed (13/14 after detethering surgery). No significant differences in colonic motility were found between children with a history of TCS and children with FC. Anorectal physiology and colonic motility are similar between children with a history of TCS and children with FC, suggesting that the underlying pathophysiology of defecatory disorders in children with and without history of TCS is similar.

The effect of using synthetic vs. biological dural substitutes during prenatal and postnatal repair of spina bifida on spinal cord tethering-a review of literature.

Spina bifida is a congenital neural tube closure defect, with myelomeningocele being the most clinically significant open neural tube defect occurring in one in 1000 births worldwide as reported by Phillips LA et al. (Curr Probl Pediatr Adolesc Health Care 47(7):173-177, 2017) and Zerah M and Kulkarni AV (Handb Clin Neurol 112:975-991, 2013). With advances in fetal surgery, this condition can be corrected in utero. Despite such precision surgery, many complications may still arise, with consequent spinal cord tethering being a major one. When the roots of the spinal cord adhere to the spinal canal instead of floating freely within the dural sleeve within the canal, it is termed as "tethering" as discussed by Martínez-Lage JF et al. (Neurocirugia (Astur) 18(4):312-319, 2007). Tethering has a variety of complications, which are best avoided by analyzing the outcomes of the different dural substitutes and improving surgical techniques. This literature review evaluates the use of different dural substitutes in fetal and postnatal surgery, with their effects on spinal cord tethering. Finding a significant difference in spinal cord adherence outcomes between these two groups can help one introspect on the impact of ideal surgical techniques to be implemented, thus reducing subsequent tethering and other future surgical interventions.

The Gradual Correction of Rigid Pes Cavus Using Midfoot Osteotomy Combined with Ilizarov Methods.

Midfoot osteotomy combined with Ilizarov methods of correction is a rarely reported treatment that is particularly well-suited for severe rigid pes cavus. The study aimed to assess the radiological and clinical results of patients who had been treated for rigid pes cavus using this method. The study retrospectively analyzed the clinical and radiological data of 15 pes cavus in 12 patients who were corrected by midfoot osteotomy with Ilizarov external frame in our department from March 2020 to September 2022. Radiologic outcomes were measured using the Meary angle (MA), talus-first metatarsal angle (TM1A), calcaneal varus angle (CVA) and foot length with weight-bearing radiographs. Functional assessments were evaluated in terms of pain, function, and quality of life by using the visual analogue scale (VAS), the American Orthopedic Foot and Ankle Society hindfoot scale score (AOFAS), and 36-item Short Form Health Survey (SF-36). Additionally, the postoperative satisfaction of patients was investigated by a questionnaire. The clinical and radiological results were evaluated by a paired t-test. All patients received plantigrade feet and pain relief. The mean follow-up was 33.1 ± 5.0 months (range from 25 to 41 months). The etiology included poliomyelitis (4), idiopathic (3), trauma (2), spina bifida (2) and tethered cord syndrome (1). The duration of gradual correction was 30.4 ± 10.6 days, and the external fixation time was 116.3 ± 33.3 days. The bony union rate was 100%. The VAS, AOFAS, and SF-36 scores significantly improved (p < 0.05). The MA, TM1A, and CVA were close to or reached the normal range postoperative (p < 0.01). The length of each foot was well preserved, which was increased more than 0.8 cm than preoperative. No major complications were reported except two cases of mildly hindfoot varus deformity. The results of the questionnaire showed that patients' satisfaction was 92% (11/12). Midfoot osteotomy combined with Ilizarov external frame proved to be a reasonable procedure with satisfying mid-term results for the gradual correction of rigid pes cavus.

Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience

Introduction: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role of neurosurgery in the comprehensive management of RTS patients. Methods: A retrospective review of patients with genetically confirmed RTS presenting between 2010 and 2023 at Children’s Hospital of Pittsburgh was performed. Patient demographics, genetic profile, clinical symptoms, radiographic characteristics, and neurosurgical management were recorded for all patients. Results: Twenty-one patients (13 females, 8 males) aged 0 to 22 years presented for formal genetic counseling and diagnosis. Twenty patients (95%) had CREBBP pathogenic variants (RTS type 1), and 1 patient (5%) had EP300 pathogenic variants (RTS type 2). Ten patients (48%) had a low-lying conus medullaris, and 3 patients (30%) underwent subsequent spinal cord detethering. Four patients (19%) had a Chiari malformation, and three (75%) underwent Chiari decompression surgeries. One patient (5%) had Chiari-associated syringomyelia. Conclusions: RTS patients have an increased rate of tethered cord syndrome requiring detethering. The incidence of symptomatic Chiari I malformation requiring decompression has not been previously reported. The RTS series presented here demonstrates a high incidence of symptomatic Chiari I malformation in addition to tethered cord syndrome.

Optimizing Therapeutic Strategies for Syringomyelia Associated with Tethered Cord Syndrome: A Comprehensive Review.

This review highlights the need for therapeutic guidelines for syringomyelia associated with tethered cord syndrome (TCS) caused by spinal dysraphism (SD). A comprehensive literature review was conducted, selecting twelve articles to analyze common therapeutic strategies. Surgical cord untethering alone has recently become a preferred treatment, with 45 ± 21.1% of patients experiencing remission or improvement, 47 ± 20.4% unchanged and asymptomatic, and 4 ± 8% worsened. Untethering with direct surgical drainage for the syrinx had better outcomes than untethering alone (78% vs. 45%, p = 0.05). Terminal syringostomy was beneficial for syrinxes extending to the filum terminale but not for asymptomatic small syrinxes with a syrinx index < 0.4. Syrinx shunting was recommended for symptomatic large syrinxes (>2 cm in length and syrinx index > 0.5). Various shunt procedures for syrinxes are still advocated, mainly for refractory syringomyelia in Chiari malformation, posttraumatic cases, SD, or other causes. Personalized surgical methods that address the root cause of syringomyelia, particularly those improving cerebrospinal fluid flow, offer promising results with minimized complications. Ongoing studies are required to enhance management strategies for syringomyelia associated with TCS, optimize patient outcomes, and reduce the risk of recurrent symptoms.

Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation

AbstractSpinal cord malformations, known as “spinal dysraphisms” encompass a diverse range of spinal abnormalities characterized by incomplete median closure of mesenchymal, bone, and nervous tissues. They are classified as “open,” involving both the spinal cord and overlying tissues, or “occult,” affecting only nervous system structures. Neurulation abnormalities along the neural tube, from the rostral to the caudal portions, primarily cause these malformations. Clinical presentations vary, including cutaneous manifestations like hemangiomas, dimples, hair tufts, and scoliosis. “Tethered cord syndrome,” often associated with these malformations, manifests as a clinical syndrome rather than a primary anomaly. Newborns are typically asymptomatic, with malformations often identified by associated skin abnormalities. Older children may experience pain, sensory/motor disturbances, urinary/anal sphincter abnormalities, and muscle weakness affecting mobility. Neuroimaging, crucial for diagnosis and treatment planning, includes ultrasound, CT, and MRI. Surgical intervention, tailored to specific malformation subtypes, may involve the repair of myelomeningocele soon after birth or conservative management for asymptomatic occult dysraphism. Rehabilitation encompasses physical, occupational, recreational, and speech therapies. Prevention is paramount, emphasizing the role of health care professionals in prenatal care and education. This review aims to provide a systematic classification of spinal cord malformations to aid clinicians in diagnosis and management.

Spinal column shortening with single-stage prone lateral vertebral osteotomy for tethered cord syndrome: illustrative case.

Tethered cord syndrome (TCS) is a rare neurological disorder characterized by longitudinal stretching on the distal end of the spinal cord. The condition commonly manifests in lumbosacral and lower-extremity pain and weakness, sensory disturbances, and incontinence. Traditionally, tethered cord release has been the first-line management for TCS, but retethering and complications such as cerebrospinal fluid leakage are commonly reported. As a result, spinal column shortening (SCS) vertebral osteotomy has emerged as a potential alternative. Herein, the authors describe the first single-stage prone lateral SCS vertebral osteotomy with simultaneous posterior exposure in a 48-year-old male patient with multiple prior direct detethering procedures. The authors highlight the case presentation, operative technique, and postoperative course. Following surgery, there were no immediate surgical complications, and the patient noted clinical improvement in his radicular pain and neurological function. This case further supports SCS vertebral osteotomy as an effective treatment option for patients with TCS. It also demonstrates the potential for a single-stage lateral approach with posterior exposure as a minimally invasive option for spinal shortening procedures. However, further studies using expanded cohorts and assessing various surgical techniques are warranted. https://thejns.org/doi/10.3171/CASE24185.

Management of split cord malformation and tethered cord syndrome: Experience of a main referral center in Uzbekistan

BackgroundSplit cord malformation and tethered cord syndrome are challenging pathologies in the pediatric population. During 2016–2022, 56 cases of split cord malformation (SCM) and tethered cord syndrome were treated at the Republican Specialized Scientific Medical Practical Center of Neurosurgery (RSSMPCN) of Uzbekistan. This article aims to provide a retrospective analysis of the clinical presentation, radiological findings, and surgical outcomes of patients with split cord malformation and tethered cord syndrome. MethodsThe retrospective study was conducted for 56 pediatric patients with split cord malformation and tethered cord syndrome during the abovementioned six-year period. All patients underwent MR imaging with computed tomography, followed by surgery with intraoperative neurophysiological monitoring. Each patient underwent follow-up examinations at 3 and 6 months postoperatively and yearly thereafter. ResultsThe mean patient age was 5.7 years (10 months to 15 years), and the male-to-female ratio was 1:2.2. Encouragingly, 44 (78.6 %) of the 56 patients showed improved neurological status postoperatively. Even in the cases where spur resection procedures were performed, there was partial neurological improvement, demonstrating the overall positive outcomes of the surgeries. Importantly, none of the 56 patients had neurological deteriorations in the postoperative period ConclusionsSplit cord malformation is a rare but challenging pathology of childhood. The presentation is primarily characterized by movement, sensory or bowel disorders, and back and leg pain. This underscores the importance of early recognition and intervention when neurological symptoms are evident. Surgical intervention, as demonstrated in our study, is both appropriate and efficient in improving the neurological status of the patients.

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome.

The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent. hEDS manifests with a diverse array of clinical symptoms and associated comorbidities spanning the musculoskeletal, neurological, gastrointestinal, cardiovascular, and immunological systems. hEDS patients may experience spinal neurological complications, including cervico-medullary symptoms arising from cranio-cervical and/or cervical instability/hypermobility, as well as tethered cord syndrome (TCS). TCS is often radiographically occult in nature, not always detectable on standard imaging and presents with lower back pain, balance issues, weakness in the lower extremities, sensory loss, and bowel or bladder dysfunction. Cervical instability due to ligament laxity can lead to headaches, vertigo, tinnitus, vision changes, syncope, radiculopathy, pain, and dysphagia. TCS and cervical instability not only share clinical features but can also co-occur in hEDS patients, posing challenges in diagnostics and clinical management. We present a review of the literature and a case study of a 20-year-old female with hEDS, who underwent surgical interventions for these conditions, highlighting the challenges in diagnosing and managing these complexities and underscoring the importance of tailored treatment strategies to improve patient outcomes.