Tethered Cord Syndrome Research Articles

Incidence of tethered cord syndrome in neurofibromatosis types 1 and 2 pediatric patients: a population-level analysis.

Tethered spinal cord syndrome (TCS) is characterized by cutaneous attachments on the filum terminale that stretch the spinal cord, leading to musculoskeletal and urogenital sequelae. While the neurocutaneous associations with TCS remain undefined, a recent study reports a high incidence of TCS among a pediatric neurofibromatosis (NF) cohort. This present study utilizes a population-level database to estimate TCS incidence among pediatric patients with neurofibromatosis types 1 and 2 (NF1, NF2). The TriNetX Research Network was queried to identify patients diagnosed with NF and/or TCS before the age of 21. Symptomatic TCS requiring surgical intervention was identified using corresponding procedural codes within 12months following TCS diagnosis. Odds ratios (OR) were calculated to measure the associations of NF1/NF2 with TCS. 19,426 pediatric NF patients were evaluated (NF1: 18,383, NF2: 1042). The average ages of TCS diagnosis among NF1, NF2, and non-NF patients were 12, 16, and 9years, respectively. The incidence of TCS was 1.2% in NF1 patients and 7.3% in NF2 patients, compared to 0.074% in the general population. The associations of NF incidence with TCS were significantly increased in both NF1 (OR 16.42; 14.38-18.76) and NF2 (OR 105.58; 83.56-133.40) patients compared to the general population. Symptomatic TCS requiring surgical intervention was not significantly associated with NF1/NF2 patients compared to the general TCS population. This analysis demonstrates a high incidence of TCS but delayed intervention in pediatric NF patients. Considering TCS counseling, spinal MRI, and earlier intervention may be warranted for NF patients experiencing musculoskeletal symptomatology.

Clinical criteria for filum terminale resection in occult tethered cord syndrome.

Tethered cord syndrome (TCS) comprises three symptom categories: back/leg pain, bowel/bladder, and neurological complaints. MRI typically reveals a low-lying conus medullaris, filum terminale (FT) pathology, or lumbosacral abnormalities. FT resection is established in TCS but not in radiologically occult TCS (OTCS). This study aims to identify patients with OTCS who are likely to benefit from FT resection. The authors recruited 149 patients with OTCS (31 pediatric, 118 adult) treated with FT resection-including only cases with progressive TCS, negative spine MRI, and no concurrent neurological/urological conditions. A comprehensive questionnaire collected patient self-reported symptoms and clinical findings at the preoperative and at 3- and 12-month follow-up examinations. Based on questionnaire data, the authors extracted a 15-item symptoms and findings scale to represent the three TCS symptom categories, assigning 1 point for each item present. OTCS presents without radicular/segmental sensorimotor findings, but with leg/back pain and conus dysfunction, in addition to leg fatigue and spasticity; the latter indicating an upper motoneuron pathology. The 15-item scale showed clinical improvement in 89% of patients at the 3-month follow-up and 68% at the 12-month follow-up. Multivariate analysis of the scale revealed that it accurately predicts outcome of FT resection in 82% of cases. Patients with a preoperative score exceeding 6 points are most likely to benefit from surgery. By applying the study's inclusion criteria and incorporating the novel 15-item scale, surgeons can effectively select candidates for FT resection in patients with OTCS. The observed outcomes in these selected patients are comparable to those achieved in degenerative spine surgery.

Pediatric neurosurgery through the lens of time-driven activity-based costing: a pilot study.

Time-driven activity-based costing (TDABC) is a method used in cost accounting that has gained traction in health economics to identify value optimization initiatives. It measures time, assigns value to time increments spent on a patient, and integrates the cost of material and human resources utilized in each episode of care. In this study, the authors report the first use of TDABC to evaluate costs in a pediatric neurosurgical practice. A clinical pathway was developed with a multifunction team. A time survey among each care team member, including surgeons, medical assistants (MAs), and patient service representatives (PSRs), was carried out prospectively over a 10-week period at a pediatric neurosurgery clinic. Consecutive patient encounters for Chiari malformation (CM), hydrocephalus, or tethered cord syndrome (TCS) were included. Encounters were categorized as new or established. Relative annual personnel costs, using the salary of a PSR as a reference (i.e., 1.0-unit cost), were calculated for all members using departmental financial data after adjustments. The relative capacity cost rates (minute-1) for each personnel, a representation of per capita cost per minute, were then derived, and the relative costs per visit were calculated. A total of 110 visits (24 new, 86 established) were captured, including 40% CM, 41% hydrocephalus, and 19% TCS encounters. Surgeons had the highest relative capacity cost rate (118.4 × 10-6), more than 10-fold higher than that of an MA or PSR (10.65 × 10-6 and 9.259 × 10-6, respectively). Surgeons also logged more time with patients compared with the rest of the care team in nearly all visits (p ≤ 0.002); consequently, the total visit costs were primarily driven by the surgeon cost (p < 0.0001). Overall, surgeon cost constituted the vast majority of the total visit cost (92%-93%), regardless of whether the visits were new or established. Visit costs did not differ by diagnosis. On average, new visits took longer than established visits (p < 0.001). This difference was largely driven by new CM visits (44.3 ± 13.7 minutes), which were significantly longer than established CM visits (29.8 ± 9.2 minutes; p = 0.001). TDABC may reveal opportunities to maximize value by highlighting instances of variability and high cost in each module of care delivery. Physician leaders in pediatric neurosurgery may be able to use this information to allocate costs and streamline value care pathways.

Spinal Cord Tethering after Trauma and Impact of Age and Surgical Outcome

Introduction: Spinal cord tethering, a condition where the spinal cord becomes attached or fixed to surrounding tissues, can occur following trauma, leading to a range of neurological deficits and complications. Objectives: The main objective of the study is to find the spinal cord tethering after trauma and impact of age and surgical outcome in local population of Pakistan. Material and methods: This retrospective study was conducted in Ayub Medical Complex Abbottabad from January 2023 to August 2023. Data was collected from 50 patients of spinal cord tethering patients. Data collection involved a comprehensive review of the medical records of patients. Relevant demographic information, including age at the time of trauma, gender, and comorbidities, was extracted. Clinical details such as mechanism of injury, level and severity of spinal cord injury, duration of symptoms and preoperative neurological status were documented. Results: Data were collected from 50 SCI patients. The mean age of the patients was 45 ± 10.5 years and there were 60% male and 40% female patients. The most common mechanisms of injury were motor vehicle accidents (50%), followed by falls (30%) and sports-related injuries (20%). Regarding the spinal level affected, the majority of injuries were cervical (60%), followed by thoracic (30%) and lumbar (10%). Neurological improvement was observed in 40% of patients, with complete improvement in 40% and partial improvement in 20%, while 40% showed no improvement. Complications were reported in a subset of patients, with cerebrospinal fluid leaks occurring in 15%, wound infections in 10%, and other complications in 5% of cases. Reoperation was necessary in 10% of patients, while 90% did not require further surgical intervention. Age and neurological improvement showed non-significant differences between groups (p &gt; 0.05), while length of hospital stay differed significantly (p = 0.018). Complications and functional improvement did not vary significantly between groups (p &gt; 0.05) Practical Implication: This study's practical implications offer vital benefits to the community. The identification of age as a critical component in spinal cord tethering after trauma enables healthcare practitioners to more accurately evaluate risk and customize therapies. Furthermore, our research emphasizes how successful surgical therapies are for patients of all ages, giving patients confidence in their available treatment alternatives. Further improving patient care is pushing for individualized treatment options and being aware of related consequences. Conclusion: It is concluded that age influences the occurrence of spinal cord tethering following trauma, with older patients being more susceptible to this complication. However, surgical intervention appears to be equally effective across age groups, with comparable rates of neurological improvement and complications. Keywords: Spinal cord tethering, Trauma, Age impact, Surgical outcome, Neurological improvement, Complications

The complex treatment paradigms for concomitant tethered cord and scoliosis: illustrative case.

Scoliosis associated with tethered cord syndrome is one of the most challenging spinal deformities to manage. Multiple surgical approaches have been developed, including traditional staged and concomitant procedures, spine-shortening osteotomies, and individual vertebral column resections. A 10-year-old female presented with congenital kyphoscoliosis with worsening curve progression, tethered spinal cord, and a history of enuresis. The scoliosis had progressed to a 26° coronal curve and 55° thoracolumbar kyphosis. Preoperative magnetic resonance imaging of the spine revealed a tethered cord between the levels of L3-4 and a large kyphotic deformity at L1. The patient underwent laminectomy, during which intraoperative motor signals were lost. A planned hemivertebrectomy at L1 was performed prior to an L4 laminectomy, untethering of the filum terminale, and posterior spinal fusion from T11 to L2. After surgery, the patient experienced transient lower-extremity weakness, with her neurological function improving from baseline over the next 2 months. Ultimately, the goal of this surgery was to halt the progressive decline in motor function, which was successfully achieved. Much remains to be learned about the treatment of this complicated disease, especially in the setting of concomitant scoliosis. This case serves to exemplify the complex treatment paradigms that exist when attempting to manage this clinical syndrome and that more remains to be learned.

Classification of and individual treatment strategies for complex tethered cord syndrome.

To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging findings, and therapeutic schedule. The clinical data of 126 patients with C-TCS admitted to our department from January 2015 to December 2020 were retrospectively analyzed. Classification criteria for C-TCS were established by analyzing the causes of C-TCS. Different surgical strategies were adopted for different types of C-TCS. The Kirollos grading, visual analogue scale (VAS), critical muscle strength, and Japanese Orthopaedic Association (JOA) scores were used to evaluate the surgical outcomes and explore individualized diagnosis and treatment strategies for C-TCS. C-TCS was usually attributable to three or more types of tether-causing factors. The disease mechanisms could be categorized as pathological thickening and lipomatosis of the filum terminal (filum terminal type), arachnoid adhesion (arachnoid type), spina bifida with lipomyelomeningocele/meningocele (cele type), spinal lipoma (lipoma type), spinal deformity (bone type), and diastomyelia malformation (diastomyelia type). Patients with different subtypes showed complex and varied symptoms and required individualized treatment strategies. Since C-TCS is attributable to different tether-related factors, C-TCS classification can guide individualized surgical treatment strategies to ensure complete release of the tethered cord and reduce surgical complications.

Exploring the life experiences of school-aged children afflicted by tethered spinal cord syndrome: An interpretative qualitative study.

Children affected by tethered cord syndrome (TCS) encounter multifaceted challenges encompassing educational, familial and social spheres, underscoring the significance of a holistic comprehension of their subjective emotional well-being and life encounters. Nonetheless, healthcare professionals tend to prioritise the physical functionality of the afflicted individuals throughout the treatment and rehabilitation process, often neglecting the emotional experiences and requirements of these children as they transition into posthospitalization phases. To advance the subjective experiences and perceptions of children with TCS upon reintegration into their families, educational institutions and wider societal contexts subsequent to their discharge from medical facilities. The study was conducted at the Children's Hospital in Zhejiang. Twelve children aged 8-15 with TCS were included in the study. The research design used an interpretative qualitative approach, utilising semi-structured interviews as the primary data collection method. Data analysis was performed using reflexive thematic analysis, facilitating a comprehensive exploration of emerging themes and patterns. Four major themes (and seven subthemes) were identified from the findings: (1) growing pains (a shameful secret, distance between ideal and reality); (2) inappropriate expressions of familial affection (knowing is not understanding, unspeakable guilt); (3) social estrangement (uncomfortable distinctions, familiar stranger) and (4) striving for independence and consistency. Children affected by TCS exhibit internal sensitivity and challenges in self-development, family dynamics and social interactions. They aspire to attain a future characterised by independence and freedom, akin to that of their typically developing peers. These findings can help health professionals, families and educators gain a deeper understanding of what it takes to be a child with TCS, and the findings can also serve as a platform for interventions that seek to promote self-expression in these children so that they can experience life as a meaningful and positive process. This study received support from children with TCS and their guardians during data collection, as well as from the head nurse of the unit. Coresearchers also contributed to design, data collection, analysis and writing.

Characterizing a new clinical phenotype: the co-existence of cerebral venous outflow and connective tissue disorders.

There is increasing recognition of connective tissue disorders and their influence on disease in the general population. A conserved clinical phenotype involving connective tissue disorders and idiopathic intracranial hypertension (IIH) and associated cerebral venous outflow disorders (CVD) has not been previously described. A single-institution retrospective review of a prospectively maintained database of patients with connective tissue disorders and CVD was performed. A total of 86 patients were identified. The majority of these patients carried a diagnosis of Ehlers-Danlos syndrome (55%) and most were non-obese (mean body mass index 29.7 kg/m2), Caucasian (90%) females (87%). Most prevalent presenting symptoms included pressure headache (98%), dizziness (90%), tinnitus (92%), and cognitive dysfunction (69%). Aside from CVD and IIH, the most common associated conditions were postural orthostatic tachycardia syndrome (POTS; 55.8%), cerebrospinal fluid (CSF) leaks (51.2%), dysautonomia (45.3%), cranio-cervical instability (37.2%), mast cell activation syndrome (25.6%), and tethered cord syndrome (23.3%). Allergies to medications (87.2%) and surgical tape (19.8%) were also frequent. Despite significantly lower opening pressures on lumbar puncture, headache severity and quality of life scores were reported with the same severity of classic IIH patients, suggesting an underlying hypersensitivity to intracranial pressures and cerebral venous congestion. There is a rare but conserved clinical phenotype that has not been described previously that presents with severe IIH symptoms in predominantly young, non-obese Caucasian women with a high associated incidence of dysautonomia, POTS, craniocervical instability, and CSF leaks, among others.

Tethered spinal cord tension assessed via ultrasound elastography in computational and intraoperative human studies

BackgroundTension in the spinal cord is a trademark of tethered cord syndrome. Unfortunately, existing tests cannot quantify tension across the bulk of the cord, making the diagnostic evaluation of stretch ambiguous. A potential non-destructive metric for spinal cord tension is ultrasound-derived shear wave velocity (SWV). The velocity is sensitive to tissue elasticity and boundary conditions including strain. We use the term Ultrasound Tensography to describe the acoustic evaluation of tension with SWV.MethodsOur solution Tethered cord Assessment with Ultrasound Tensography (TAUT) was utilized in three sub-studies: finite element simulations, a cadaveric benchtop validation, and a neurosurgical case series. The simulation computed SWV for given tensile forces. The cadaveric model with induced tension validated the SWV-tension relationship. Lastly, SWV was measured intraoperatively in patients diagnosed with tethered cords who underwent treatment (spinal column shortening). The surgery alleviates tension by decreasing the vertebral column length.ResultsHere we observe a strong linear relationship between tension and squared SWV across the preclinical sub-studies. Higher tension induces faster shear waves in the simulation (R2 = 0.984) and cadaveric (R2 = 0.951) models. The SWV decreases in all neurosurgical procedures (p < 0.001). Moreover, TAUT has a c-statistic of 0.962 (0.92-1.00), detecting all tethered cords.ConclusionsThis study presents a physical, clinical metric of spinal cord tension. Strong agreement among computational, cadaveric, and clinical studies demonstrates the utility of ultrasound-induced SWV for quantitative intraoperative feedback. This technology is positioned to enhance tethered cord diagnosis, treatment, and postoperative monitoring as it differentiates stretched from healthy cords.

Tethered Cord Syndrome – case series

Tethered Cord Syndrome – case series

Surgical Treatment Results of Adult Tethered Spinal Cord Syndrome.

To present symptoms and surgical results of patients operated on with the diagnosis of tethered cord syndrome (TCS) in adulthood. In this retrospective study, 20 patients older than 18 years were evaluated. There were 17 female and 3 male patients. Patient demographics, clinical and surgical results were evaluated. The mean age was 29.9 years and the mean follow-up period was 30 months. Of the 20 patients with low back and leg pain, 16 had relief. Two were partially benefited and 2 were unchanged. In nine patients, carrying heavy loads, excessive exercise, childbirth, and walking too long before the onset of symptoms were detected. Complaint of urinary incontinance was improved only in one patient. Three of them continued with frequent urination. There was no change in two of them. There was no improvement in sensory dysfunction and sphincter dysfunction. In patients diagnosed with TCS in adulthood, symptoms may begin with physical activity, and clinical recovery is better when early surgery is performed.

Myelomeningocele: Long-Term Neurosurgical Management.

Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares. Several additional surgical procedures are generally necessary to improve the long-term outcomes of patients affected by MMC and multidisciplinary evaluations are crucial for early identification and management of the various medical condition that can accompany this pathology. In this chapter, the most common pathological entities associated with MMC are illustrated, focusing on clinical manifestations, treatment strategies and follow up recommendations.

Diagnosis and Management of Tethered Cord Syndrome.

Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without a connecting extradural component, intradural fibrous adhesions, diastematomyelia, and neural placode adhesions following closure of a myelomeningocele.It usually occurs in childhood and adolescence as the spine grows in length, but it can also develop in adulthood. Symptoms of tethered cord syndrome are slowly progressive and varied. Incorrect diagnosis and inappropriate treatment may be provided if the physician lacks knowledge and understanding of this disease.This chapter aims to describe the pathophysiology, syndromes, diagnostic imaging, surgical treatment, and prognosis of tethered cord syndrome to enhance the understanding of this condition.

NEGLECTED CASE OF CERVICAL MENINGOCELE IN AN ADULT.

Caused by a disturbance in the neurulation process, neural tube defects (NTD) are easily diagnosed and treated in the early years of life. Although early repair of NTD is advocated, there is lacking information on its natural course. There are only 11 cases, including this one, reported in literature of a cervical meningocele diagnosed and treated in an adult. A 64-year-old male patient was aware of a skin lesion on his neck but had not consulted a physician until 3 years ago when he started experiencing neuropathic pain in his arms. Cervical MRI revealed a posterior arch fusion defect, a syrinx cavity between the C2-C6 levels with a tethering meningocele at the C6 level. He was operated on with the excision of the skin tag and connecting stalk. During prone positioning and neck flexion, intraoperative neuromonitorazion indicated a loss in MEP values; thus, flexion was reduced. Intradural adhesiolysis of the connecting bands around the spinal cord was performed, and dura was sutured. The patient recovered uneventfully, but he still had neuropathic pain in his left arm aggravated by straining. Histological analysis revealed meningothelial cells and psammoma bodies. Postoperative MRI revealed the untethering of the spinal cord with relative reduction in the syrinx cavity. NTD can be easily detected and treated early in life to prevent neurological deterioration, to decrease the rate of infection, and to improve cosmetic appearance. However, because they are mostly treated during childhood, their natural course in adulthood remains unknown. There are only a handful of case reports of cervical meningoceles in adults. Pathological analysis suggestive of a meningioma may also shed light on the theory of "cutaneous meningioma." In addition, the loss of MEP values in neck flexion should caution surgeons in avoiding hyperflexion, especially in cases of spinal cord tethering.

TETHERED CORD SYNDROME RELEASE IN PEDIATRIC POPULATION: THE SURGICAL AUDIT AT ALI INSTITUTE OF NEUROSCIENCES, IRFAN GENERAL HOSPITAL, PESHAWAR

BACKGROUND: Tethered cord syndrome, is a disease characterized by neurological, gastrointestinal, musculoskeletal, and urinary problems related to spinal cord traction. It may be present alone, although it is commonly a part of undetected spinal dysraphism. A tethered cord release open surgery is the current standard of care management for TCS. TCR is frequently used in pediatric patients, particularly because the earlier intervention is frequently advised for better results. OBJECTIVE: The aim of this retrospective study was to investigates the outcomes and perform audit of the tethered Cord Syndrome release in pediatric population. METHODOLOGY: The records of total of 37 patients who underwent surgical release for tethered cord syndrome from January 2015 to December 2022 were evaluated at Ali Institute of Neurosciences, Irfan General Hospital, Peshawar. Patient demographics, clinical presentations, and outcomes were analyzed. Data were analyzed using descriptive statistics by using SPSS software version 26. RESULTS: Mean age of the participants was 10.5 years. Majority were females 22(59.46%) as compared to males 15 (40.54%). Clinical manifestations encompassed a spectrum of symptoms, including leg weakness (75.7%), foot deformity (48.6%), and trophic ulcers (40.5%). 40.5% of patients experienced a significant enhancement in motor function. CONCLUSION: The results of our study concluded that release of tethered cord syndrome is an effective and safe surgical procedure associated with improved clinical outcomes in terms of symptomatic relief and improvements in motor and sensory functions. However, the procedure is also associated with mild complications. KEY WORDS: Clinical Outcomes, Neurological Improvement, Pediatric Neurosurgery, Surgical Release, Tethered Cord Syndrome

The Surgical Histopathology of the Filum Terminale: Findings from a Large Series of Patients with Tethered Cord Syndrome.

This study investigated the prevalence of embryonic and connective tissue elements in the filum terminale (FT) of patients with tethered cord syndrome (TCS), examining both typical and pathological histology. The FT specimens from 288 patients who underwent spinal cord detethering from 2013 to 2021 were analyzed. The histopathological examination involved routine hematoxylin and eosin staining and specific immunohistochemistry when needed. The patient details were extracted from electronic medical records. The study found that 97.6% of the FT specimens had peripheral nerves, and 70.8% had regular ependymal cell linings. Other findings included ependymal cysts and canals, ganglion cells, neuropil, and prominent vascular features. Notably, 41% showed fatty infiltration, and 7.6% had dystrophic calcification. Inflammatory infiltrates, an underreported finding, were observed in 3.8% of the specimens. The research highlights peripheral nerves and ganglion cells as natural components of the FT, with ependymal cell overgrowth and other tissues potentially linked to TCS. Enlarged vessels may suggest venous congestion due to altered FT mechanics. The presence of lymphocytic infiltrations and calcifications provides new insights into structural changes and mechanical stress in the FT, contributing to our understanding of TCS pathology.

Tethered cord syndrome: an unusual cause of neurobladder in adult: a case report

Tethered cord syndrome: an unusual cause of neurobladder in adult: a case report

Endoscopic spinal cord untethering using a 1 cm skin incision technique in pediatrics: a technical case report

BackgroundSpinal cord untethering by sectioning the filum terminale is commonly performed in tethered cord syndrome patients with minor abnormalities such as filar lipoma, thickened filum terminale, and low conus medullaris. Our endoscopic surgical technique, using the interlaminar approach, allows for sectioning the filum terminale through a very small skin incision. To our knowledge, this procedure has not been previously reported. This is the first case report involving a 1 cm skin incision.Case presentationA 9-month-old male patient was referred to our neurosurgical department due to a coccygeal dimple. MRI revealed a thickened fatty filum. After considering the treatment options for this patient, the parents agreed to spinal cord untethering. A midline 1 cm skin incision was made at the L4/5 vertebral level. Untethering by sectioning the filum terminale was performed by full endoscopic surgery using the interlaminar approach. The procedure was uneventful and there were no postoperative complications.ConclusionsIn terms of visibility and minimizing invasiveness, our surgical technique of using the interlaminar approach with endoscopy allows for untethering by sectioning the filum terminale through a very small skin incision.

Adult Intramedullary Mature Teratoma of the Spinal Cord: An Unusual Case with a Review of the Literature

Intraspinal teratoma is a rare subtype of spinal cord tumors, accounting for only 0.2% to 0.5% of cases. These tumors consist of a mixture of two or more germ cell layers, including the ectoderm, endoderm, and mesoderm. They often contain epithelial tissues, fatty tissues, and follicles derived from these three layers, which can be visualized on magnetic resonance imaging (MRI) in most cases. However, in our patient, a 35-year-old woman with an intradural oval intramedullary teratoma at the L4 level, the tumor exhibited features similar to those of a schwannoma. On MRI, the tumor appeared as a 2-cm mass attached to the end of the spinal cord, with intermediate signal intensity on T2-weighted images and iso-intensity without enhancement on T1-weighted images. L4 laminoplasty with tumor removal was performed under intraoperative monitoring. The tumor was found to be firm with a cyst containing mucoid and fatty tissue posteriorly. Near-total resection was achieved, although the tumor margin was indistinct. A literature review revealed spinal cord tethering and the presence of fatty tissue without MRI enhancement as characteristic findings of teratomas and dermoid cysts.

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.