Recurrent tethered cord: outcome and follow-up of 20 de-thetering for symptomatic spina bifida: choort study.

OBJECTIVE: The objective of this study was to evaluate the prevalence of tethered cord among patients in the postoperative period of open and occult spina bifida. To identify warning signs for its early diagnosis, as well as outcomes after the new surgical approach. METHODS: Retrospective study of patients followed at the Pediatric Neurosurgery Department of the Federal University of São Paulo with spinal dysraphism. Signs and symptoms indicating reoperation were collected, and postoperative results were classified as improved, unchanged, or worsened. RESULTS: 222 medical records of patients diagnosed with spinal dysraphism were evaluated. Symptomatic Tethered Cord Syndrome (STCS) was identified in 30 patients (13.51%), with clinical manifestations related to orthopedic deformities (66.7%), neurological deficits (56.7%), urological dysfunction (50%), and intestinal dysfunction (40%). 20 cases underwent surgery for tethered cord release. The mean age at the time of surgery was 7.7 ± 4.9 years, with 13 female patients (65%). In the postoperative evaluation, improvement in low back pain (90.9%), urological pattern, and urinary tract infection episodes (45.4%) were particularly noteworthy. 3 patients (33.3%) with constipation showed improvement, and one worsened (11.1%). Improvement in ambulation was seen in two cases (16.7%). Low back pain was the first symptom to improve after surgery, with an average time of 1.3 months, followed by changes in the urological pattern at 15.6 months. Improvement in constipation was observed in the first month in 2 cases (66.7%), positive changes in ambulation were observed around 7 months after surgery, and only one case showed improvement in clubfoot correction. CONCLUSIONS: The prevalence of tethered cord recurrence after primary correction surgery for open or occult neural tube closure defects was similar to that found in the literature. The results were encouraging, with good postoperative evolution of patients, especially in the improvement of low back pain and urological symptoms.

Sectioning of the Filum Terminale in Patients with Chiari Malformation Type 1 Associated with Occult Tethered Cord Syndrome: Literature Review / Secção do filum terminale em pacientes com malformação de chiari tipo 1 associado a síndrome oculta da medula presa: revisão de literatura

Approximately 125 years ago, a group of pathologies now known as Chiari malformations was described for the first time. However, some mechanisms of its formation still remain unknown. A bibliographic survey was performed through a search in PubMed. In 1938, it was already theorized that an increase in spinal cord tension could be the cause of Chiari malformation type 1 (CM1) tonsillar herniation. In 1953, a condition known for the anchoring of the filum terminale to the vertebral canal was described for the first time and would later be known as tethered cord syndrome (TCS). Some studies have shown that it is associated with increased tension in the spinal cord, and this formed the basis for a possible pathophysiological explanation of tonsillar herniation. Case series emerged reporting that treatment for TCS with the sectioning of the filum terminale (SFT) could provide clinical improvement of patients with CM1. A new pathological entity emerged when it was realized that patients with the clinical picture of TCS could have the medullary cone in its normal position, differing from the caudal migration expected for the TCS. This condition became known as occult tethered cord syndrome (OTCS). Case series attempted to demonstrate its association with the origin of CM1, a non-intuitive association, since the cone in the normal position contradicts traction as a source of tonsillar herniation. To this day, the absence of randomized control trials limits any conclusions regarding the effectiveness of SFT for the treatment of patients with CM1.

Há cerca de 125 anos, era descrita pela primeira vez um grupo de patologias hoje conhecidas como malformações de Chiari. No entanto, alguns mecanismos de sua formação ainda permanecem desconhecidos. Um levantamento bibliográfico foi feito através do PubMed. Em 1938, já se teorizava que um aumento da tensão medular poderia ser a causa da herniação tonsilar da malformação de Chiari tipo 1 (MC1). Em 1953, foi descrita pela primeira vez uma condição conhecida pelo ancoramento do filum terminale ao canal vertebral e que mais tarde viria a ser conhecida como síndrome da medula presa (SMP). Alguns estudos demonstraram que ela estava associada à tensão aumentada na medula espinhal, e a partir disso estava formada a base para uma possível explicação fisiopatológica da herniação tonsilar. Séries de casos surgiram relatando que o tratamento para a SMP com a secção do filum terminale poderia proporcionar melhora clínica aos pacientes com MC1. Uma nova entidade patológica surgiu quando se percebeu que pacientes com o quadro clínico de SMP poderiam ter o cone medular em sua posição normal, diferente da migração caudal esperada para a SMP. Essa condição ficou conhecida como SMP oculta. Séries de casos tentaram demonstrar sua associação com a origem da MC1, uma associação nada intuitiva, visto que o cone na posição normal contradiz a tração como fonte da herniação tonsilar. A ausência de ensaios randomizados controlados até o dia de hoje não permite concluir a eficácia do método de secção do filum no tratamento de pacientes com MC1.

Lipomielomeningocele y médula anclada en un neonato: a propósito de un hallazgo cutáneo / Lipomyelomeningocele and tethered cord in neonate: a cutaneous finding / Lipomielomeningocele e medula ancorada em rescem nacido: um achado cutâneo

Introducción: el disrafismo espinal oculto comprende las anomalías congénitas caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel sin observarse exposición del tejido nervioso. Existen estigmas cutáneos que se asocian a su presencia, siendo los lipomas congénitos en la línea media posterior altamente sugerentes de lesión espinal. Su principal complicación es la asociación con el síndrome de médula anclada, que puede causar un daño neurológico irreversible. Caso clínico: recién nacida de sexo femenino, durante la exploración en Maternidad detectamos un estigma cutáneo del tipo lipoma en la región sacra sospechoso de disrafismo espinal oculto, confirmándose posteriormente, mediante estudio con ecografía y resonancia magnética, la presencia de lipomielomeningocele y médula anclada. Conclusiones: el reconocimiento de los marcadores cutáneos, que constituyen a veces la única manifestación de la enfermedad en pacientes asintomáticos, posibilitaría un diagnóstico precoz y manejo individualizado con posible corrección quirúrgica según el caso, que podría prevenir el daño neurológico irreversible asociado a la médula anclada.

Introduction: hidden spinal dysraphism involves congenital anomalies characterized by an incomplete fusion of the neural tube, where the lesion is covered by skin and the nervous tissue is not exposed. Some skin stigmas are linked with this spinal injury, mainly congenital lipomas in the posterior midline of the lesion. Hidden spinal dysraphism's main complication could be tethered cord syndrome, which can cause irreversible neurological damage. Clinical case: female newborn showing a lipoma-like skin stigma in the sacral region, looking like hidden spinal dysraphism, which was later confirmed through ultrasound and magnetic resonance imaging, which showed lipomyelomeningocele and a tethered cord. Conclusions: early detection of these skin markers is sometimes the only tool to early diagnosis and personalized treatment in asymptomatic patients. It enables a possible surgical remediation and may prevent the irreversible neurological damage linked to the tethered cord.

Introdução: o disrafismo espinhal oculto envolve anomalias congênitas caracterizadas por uma fusão incompleta do tubo neural, onde a lesão é coberta por pele e o tecido nervoso não fica exposto. Alguns estigmas de pele estão relacionados a essa lesão espinhal, principalmente lipomas congênitos na linha média posterior da lesão. A principal complicação do disrafismo espinhal oculto pode ser a síndrome da medula ancorada, a qual pode causar danos neurológicos irreversíveis. Caso clínico: recém-nascida apresenta estigma cutâneo semelhante a lipoma na região sacral, semelhante a disrafismo espinhal oculto, posteriormente confirmado por ultrassonografia e ressonância magnética, o que evidenciou lipomielomeningocele e medula ancorada. Conclusões: a detecção precoce desses marcadores cutâneos às vezes é a única ferramenta para o diagnóstico precoce e tratamento personalizado em pacientes assintomáticos. Permite uma possível correção cirúrgica e pode prevenir os danos neurológicos irreversíveis ligados à medula ancorada.

Functional outcome after cord detethering in fecally incontinent patients with anorectal malformations.

PURPOSE: Tethered cord (TC) occurs in 36% of patients with anorectal malformations (ARMs), for whom the benefit of detethering surgery remains unclear regarding bowel and/or bladder function. This study aimed to examine whether cord detethering could improve fecal and urinary incontinence in these patients. METHODS: This was a retrospective study of TC patients (>3 years old) with fecal incontinence and ARMs, who underwent detethering surgery between 2016 and 2020 and were followed up for at least 6 months. RESULTS: Of the 27 included patients, 55% had sacral ratios between 0.4 and 0.7, and in 37% it was < 0.4; the remaining 8% was over 0.7; 52% suffered from colonic hypermotility. After detethering surgery, partial fecal continence was achieved in five patients (18%); total fecal continence, in ten patients (37%); 12 (44%) remained fecally incontinent. Partial urinary continence was obtained in four cases (14%), and the number of patients with total urinary continence rose from 7 (25%) to 15 (55%). Lower extremity symptoms were also improved in 72% of the cases. Patients with colonic hypomotility were found to have a better functional outcome than those with colonic hypermotility (69% vs. 43%, respectively). CONCLUSION: Our study demonstrated that detethering surgery led to remarkably improved bowel and bladder control in ARM patients with fecal incontinence, which, surprisingly, was not associated with sacral ratio.

Caudal Regression Syndrome-A Review Focusing on Genetic Associations.

Caudal regression syndrome (CRS) represents a spectrum of clinical phenotypes with varying degrees of malformation of the lower body with involvement of structures deriving from all 3 layers of the trilaminar embryo. We review areas of active investigation in the diagnosis, etiology, epidemiology, and treatment of the disease with a focus on underlying genetics. CRS pathobiology is complex and multifactorial with a significant contribution from environmental factors as evidenced in twin studies. Contemporary genomic and genetic investigations in both human primary tissue and murine in vitro and in vivo models implicate various genes associated with caudal differentiation and neural cell migration in embryogenesis. A large number of identified targets center around the metabolic regulation of retinoic acid and its derivatives. Dysregulation of retinoic acid homeostasis has been associated with abnormal embryonic cell migration, differentiation, and organogenesis with resulting malformations and agenesis in both a laboratory and a clinical setting. There appears to be a significant overlap in potential genetic targets with CRS and other developmental syndromes with similar presentations, such as VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. CRS represents a spectrum of caudal developmental abnormalities with treatment options limited to mild and moderate expressions of disease. Continued research is necessary to further clarify mechanisms of disease pathobiology and complex polygenetic and environmental interaction. Despite this, progress has been made in identifying genetic targets and downstream effectors contributing to preclinical and clinical progression.

Médula espinal amarrada. Reporte de caso / Case Report: Tethered cord syndrome

We present the case of a 31-year-old patient recent diagnosed with tethered cord syndrome, by MRI, before urgent caesarian section. The image shows the conus medullaris in a low location, reaching L5-S1, which could lead to potential neurological damage if it hadn't been diagnosed. Tethered cord syndrome is a condition in which the spinal cord is enlongated and in a low location, attached to an inelastic structure that holds the conus medullaris, blocking its normal ascension during growth. As a result, the conus medullaris is located below L2 vertebral body, increasing the risk of suffering direct neural damage at spinal anesthesia. Even if direct cord injury can be avoided, the injection of a local anesthetic agent may increase the subarachnoidal preassure leading undirectly to spinal cord damage. The tethered cord is considered to be a contraindication for spinal anesthesia. The incidence of tethered cord is unknown, it can be asymptomatic in adults or present non-specific symptoms, making it difficult to detect before anesthesia. The MRI is the best method for adult diagnosis, allowing us to evaluate the conus medullaris location, injuries and deformations

Presentamos el caso de una paciente de 31 años coordinada para cesárea de urgencia con diagnóstico reciente de médula amarrada (MA) por resonancia magnética. La imagen muestra el cono medular descendido hasta por lo menos L5-S1, exponiéndola a un potencial daño neurológico de no contar con el diagnóstico. Médula amarrada es una condición en la cual la médula espinal se encuentra estirada y descendida por una estructura inelástica que amarra el cono medular, evitando su normal ascenso durante el crecimiento. Como resultado, el cono medular se encuentra por debajo del cuerpo de L2, incrementando el riesgo de lesión directa con la aguja de raquianestesia. Incluso en aquellos pacientes en que la lesión directa no se produce, la inyección del anestésico local puede aumentar la presión subaracnoidea pudiendo provocar una lesión indirecta. La MA es considerada una contraindicación para la anestesia raquídea. La incidencia de MA se desconoce, en adultos puede ser asintomática o presentar síntomas inespecíficos dificultando su diagnóstico preoperatorio. La RNM es el método de elección para el diagnóstico en adultos, permitiéndonos valorar la localización del cono medular, lesiones y malformaciones En neonatos la ultrasonografía puede ser también de utilidad para el diagnóstico.

Evaluation of Dorsal Midline Discolorations with Physical Examination and Ultrasound.

OBJECTIVE: To assess the association between dorsal midline skin discolorations, tethering of the spinal cord, and the role of ultrasound screening of these stigmata, focusing specifically on vascular lesions. STUDY DESIGN: We conducted a prospective observational study of infants <6 months of age with suspicious dorsal midline skin stigmata. All were evaluated by physical examination and ultrasound scan. A subset also had a magnetic resonance imaging examination. We examined the association between small, red-shaded discolorations and their respective imaging findings. RESULTS: Among 100 cases with discolorations of vascular types, either isolated or combined with low-risk simple dimples or deviated gluteal folds, none had clinically significant pathologic findings requiring surgical intervention. CONCLUSIONS: Midline lumbar discolorations are more benign than previously thought. Despite the very low association of this group of stigmata with surgical implications, we still recommend the routine use of ultrasound scanning.

Symptomatic retethering of the spinal cord in postoperative lipomyelomeningocele patients: a meta-analysis.

BACKGROUND: Timing of surgical treatment for tethered cord syndrome due to a lipomyelomeningocele (LMM) has been controversial. The purpose of this study was to evaluate populations of patients treated surgically for LMM in a meta-analysis in order to better understand how outcomes differ based on follow-up time, symptomatology, and LMM classification. METHODS: An extensive search on PubMed and Google Scholar was performed for LMM and surgical outcomes to identify case series of patients for inclusion in this analysis. Patients were sorted based upon symptomatology prior to surgery and Chapman's LMM classification, where possible. Deterioration rates were determined by symptomatic retethering of the spinal cord that led to repeat surgery. RESULTS: Of 608 (19 %) patients, 115 were included in the study experienced deterioration leading to repeat surgery. Symptomatic and asymptomatic patients did not experience significantly different rates of deterioration after surgical untethering. There was a significant positive linear correlation between follow-up time of studies and percentage of patients deteriorating with an increase of 3.3 % per year of follow-up. Transitional LMM had a significantly higher rate of deterioration compared to the caudal type along with the entire patient pool. CONCLUSIONS: Outcomes of primary surgical treatment in regard to late deterioration are not significantly affected by patient symptomatology. Patient deterioration increases linearly over time. Additional studies should be performed to adequately determine the natural history of asymptomatic patients that are treated conservatively for LMM.

Síndrome de médula anclada en el adulto / Tethered cord syndrome in adults

El síndrome de médula anclada es provocado por una fijación anormal de la médula secundaria a disrafismo espinal. Es una afección poco frecuente, de diagnóstico tardío en el adulto, puede confundirse con otras afecciones. Se caracteriza por manifestaciones neurológicas deficitarias sensitivas y motoras de miembros inferiores, deformidades ortopédicas en los pies y estigmas cutáneos. La realización de estudios electrofisiológicos es de vital importancia en estos casos para demostrar el grado de intensidad de la afectación nerviosa, así como su topografía. Las imágenes de resonancia magnética confirman este diagnóstico. Presentamos tres casos en los cuales la sintomatología aparece en la adultez temprana y se tiene un diagnóstico presuntivo diferente al de médula anclada. A todos estos casos se les realizó estudio de conducción nerviosa periférica, potenciales evocados somatosensoriales y electromiografía de miembros inferiores, así como estudios imagenológicos. Los estudios electrofisiológicos demostraron afección moderada a severa de las estructuras nerviosas evaluadas y las imágenes de resonancia magnética confirmaron el diagnóstico de médula espinal anclada.

Tethered cord syndrome is due to pathologic fixation of the spinal cord in the spinal canal. It's an uncommondisease, it's diagnosis is very late in adults and can simulate other affections. It presents neurological manifestations,orthopedics deformities in legs and skin manifestation. Neurophysiologycal studies are very important in those cases to demonstrate the intensity of nerve affection and exactly topography. The image studies, in special magnetic resonance image confirm this disease.We show three cases with tethered cord syndrome that appears in young ages and others presumptive diagnosis are planted at the beginning of clinical picture. Nerve conduction study, Somatosensory evoked potentials and Electromiography of lower members and Magnetic Resonance Images were done to those patients. Electrophysiologycal studies have showed moderate to severe abnormalities of the nerve structures and Magnetic Resonance Images confirmed tethered cord syndrome.