Introdução
O que você precisa saber de cara
A síndrome da medula ancorada (SMA) refere-se a um grupo de distúrbios neurológicos relacionados a malformações da medula espinhal. Diversas formas incluem o filum terminale espesso, lipomeningomielocele, malformações de divisão medular (diastematomielia), formas ocultas, tratos sinusais dérmicos e dermoides. Todas as formas envolvem o puxamento da medula espinhal na base do canal vertebral, literalmente uma medula ancorada. Normalmente, a medula espinhal fica solta no canal, livre para se mover para cima e para baixo com o crescimento, além de flexões e alongamentos. Uma medula ancorada, no entanto, é mantida esticada na extremidade ou em algum ponto do canal vertebral. Em crianças, uma medula ancorada pode forçar a medula espinhal a se esticar à medida que elas crescem.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome da medula ancorada, primário
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
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Publicações mais relevantes
Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.
PurposeNeurogenic detrusor overactivity (NDO) can lead to elevated bladder pressure and pose significant risks to the upper urinary tract. This study aimed to evaluate the efficacy of combining solifenacin with biofeedback in treating pediatric NDO caused by primary tethered cord syndrome (TCS).MethodsThis study conducted a retrospective analysis of 32 children diagnosed with NDO caused by primary TCS, who were enrolled and assigned to two groups: group A (n = 16) received solifenacin alone, whereas group B (n = 16) underwent a combined regimen of solifenacin and biofeedback. Outcomes, including lower urinary tract symptoms, urodynamic parameters, and post-void residual urine (PVRU), were assessed at 4, 12, and 24 weeks.ResultsAt 4 and 12 weeks after the initial treatment, both groups showed improvement in lower urinary tract symptoms compared with baseline. However, no statistically significant differences were observed in both groups (P > .05). In assessments at 24 weeks, group B exhibited greater improvement in lower urinary tract symptoms and urodynamic parameters compared with group A (P < .05). These differences were particularly evident in bladder compliance and detrusor overactivity. Despite these superior outcomes, group B required lower cumulative doses of solifenacin than group A. Additionally, no statistically significant improvements were found in PVRU or detrusor function during voiding in either group throughout the follow-up period.ConclusionsThe combination of solifenacin and biofeedback proved to be an effective treatment for pediatric NDO caused by primary TCS, compared with solifenacin monotherapy. This combined approach not only enhanced clinical outcomes but also allowed for reduced solifenacin dosages.
Is There a Correlation between the position of conus medullaris and the clinical presentation and surgical outcomes in primary tethered cord Syndrome?
Adult tethered-cord syndrome (TCS) is a controversial subject. Clinical presentation and radiographic diagnosis do not always corelate, resulting in the diagnosis being incorrectly dismissed. We reviewed the clinical presentation and surgical outcome with regards to the position of the conus medullaris using a prospectively maintained database of patients treated by single neurosurgeon between 9/1/2019 to 12/31/2021. The position of the conus medullaris was determined from the T-2 weighted sagittal and axial MRI images and designated as being above, at or below the L1/L2 disc space. Prevalence of signs, symptoms, intra-operative findings and outcomes were compared. In 101 patients reviewed, the conus was located above, at or below the L1/L2 disc in 32, 30 and 39 patients respectively. The male/female ratio and duration of symptoms did not differ between the groups. The groups did not differ with regards to the prevalence of low back pain, paresthesiae or pain in the lower extremities, subjective weakness in the lower extremities, urinary symptoms or bowel motility symptoms. Surgery, prescribed based on clinical signs and symptoms, consisted of sacral laminectomy and sectioning of the filum terminale interna. Near complete resolution of symptoms was achieved in 75 patients, independently of the position of the conus medullaris. The diagnosis of the TCS should be considered in the differential diagnosis of patients presenting with lower back and leg pain accompanied by urological symptoms.
The Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.
Currently, detethering surgery (DS) is the modality most extensively utilized to treat primary Tethered cord syndrome (TCS). Disappointingly, some children without bladder impairment showed a deterioration of bladder function after surgery, which critically influences the health-related quality of life. It was hypothesized that the DS might have a significant effect on bladder function and psychology. Therefore, the purpose of this study was to investigate the effect of DS on bladder function and quality of life in children with primary TCS. A retrospective study of 83 patients aged 6 to 10 years who were diagnosed with TCS and underwent DS between 2022 and 2023. The urodynamic parameters and score, psychological-behavioral profile, and lower urinary tract symptoms were compared before and after DS. Additionally, the patients were divided into the normal group and the abnormal group according to the preoperative urodynamics parameters. A total of 66 children fulfilled the criteria, with a mean age at surgery of 89.5 ± 13.7 months. There were statistically significant differences in bladder detrusor sphincter synergy and urodynamic score and no statistically significant difference in the remaining urodynamic parameters and psychological-behavioral items before and after DS. The proportion of bladder dysfunction that improved or did not worsen after surgery was higher in the Abnormal group than in the Normal group. Nevertheless, the detection rate of each psychological behavior abnormality in children with TCS was higher compared with that of normal children, both preoperatively and postoperatively. DS could not considerably ameliorate pre-existing bladder dysfunction and patients exhibiting non-progressive bladder dysfunction could be treated conservatively with close observation. TCS plagues patients all the time even if detethering. Psychological counseling for children with TCS should be strengthened after DS.
Disparities in Indications and Outcomes Reporting for Spinal Column Shortening for Tethered Cord Syndrome: The Need for a Standardized Approach.
Systematic review. To identify commonly reported indications and outcomes in spinal column shortening (SCS) procedures. SCS is a surgical procedure used in patients with tethered cord syndrome-characterized by abnormal attachment of neural components to surrounding tissues-to shorten the vertebral column, release tension on the spinal cord/neural elements, and alleviate associated symptoms. PubMed and EMBASE searches captured SCS literature published between 1950 and 2023. Prospective/retrospective cohort studies and case series were included without age limit or required follow-up period. Review articles without new patient presentations, meta-analyses, systematic reviews, conference abstracts, and letters were excluded. Studies included adult and pediatric patients. The 29 identified studies represented 278 patients (aged 5-76 yr). In 24.1% of studies, patients underwent primary tethered cord syndrome intervention through SCS. In 41.4% of studies, patients underwent SCS after failed previous primary detethering (24.1% of studies were mixed and 10.3% were unspecified). The most commonly reported nongenitourinary/bowel surgical indications were back pain (55.2%), lower-extremity pain (48.3%), lower-extremity weakness (48.3%), lower-extremity numbness (34.5%), and lower-extremity motor dysfunction (34.5%). Genitourinary/bowel symptoms were most often described as nonspecific bladder dysfunction (58.6%), bladder incontinence (34.5%), and bowel dysfunction (31.0%). After SCS, nongenitourinary/bowel outcomes included lower-extremity pain (44.8%), back pain (31.0%), and lower-extremity sensory and motor function (both 31.0%). Bladder dysfunction (79.3%), bowel dysfunction (34.5%), and bladder incontinence (13.8%) were commonly reported genitourinary/bowel outcomes. In total, 40 presenting surgical indication categories and 33 unique outcome measures were reported across studies. Seventeen of the 278 patients (6.1%) experienced a complication. The SCS surgical literature displays variability in operative indications and postoperative outcomes. The lack of common reporting mechanisms impedes higher-level analysis. A standardized outcomes measurement tool, encompassing both patient-reported outcome measures and objective metrics, is necessary. Level IV.
[Classification and microsurgical treatment of primary tethered cord syndrome in adults].
To summarize the clinical manifestation, classification, and experience of surgical treatment of primary tethered cord syndrome (TCS) in adults. The authors retrospectively analyzed a series of 171 adult patients with primary TCS who were surgically treated under microscope from March 2007 to October 2019. There were 61 males and 110 females whose ages were 18-65 years, with an average age of (39.02±11.81) years. Clinically, the patients presented with various neurological symptoms and signs including lower back and legs pain, reflex changes, sensory disturbances, muscle weakness, and sphincter problems. They were divided into 5 types by clinical manifestations and neuro-imaging features: (1) filum terminale traction in 69 cases, (2) split cord malformation in 21 cases, (3) myelomeningocele in 20 cases, (4) lipomyelomeningocele in 36 cases, and (5) dermal sinus traction in 25 cases. All the patients underwent microsurgery to untether the spinal cord. The patients kept prone position 7 days postoperatively. The Kirollos grading was used to evaluate the outcome of intraoperative untethering. The visual analogue scale (VAS) was used to evaluate the pain, the score of critical muscle strength was used to evaluate the lower extremity motor function, and the Japanese Orthopaedic Association (JOA) sphincter function score was used to evaluate the bladder function. All of the 171 patients were treated with microsurgery to release the adhesion and cut off the filum terminalis. 61 cases of them received resection of the lesions according to the etiology. All the tethered spinal cord reached Kirollos grade Ⅰ untethering and the dural sac was reconstructed. Other than 5 patients had cerebrospinal fluid leakage and incision laceration and underwent re-suture, there was no surgical complication. The local pain was relieved, the lower limbs weakness or bowel and bladder dysfunction gradually recovered postoperatively. The period of follow-up ranged from 6 months to 12.5 years with an average of (5.62±2.31) years. The neurological function was improved in 153 cases and stable in 18 cases. There was no recurrence of tethered cord be found during the follow-up period. The primary TCS in adulthood could be classified into 5 types by clinical manifestations and neuro-imaging features and surgical treatment should be undertaken in regard to the classifications including dissection and resection of the lesion detethering the spinal cord and reconstruction of the dura sac under microscope. The outcome of surgical treatment is satisfactory. 总结成人原发性脊髓拴系综合征(tethered cord syndrome, TCS)的临床特点、分型及手术治疗经验。 回顾性分析2007年3月至2019年10月北京大学第三医院手术治疗的171例成人原发性TCS患者的临床资料,男性61例,女性110例,年龄18~65岁,平均年龄(39.02±11.81)岁,主要症状为腰腿痛、双下肢麻木无力和大小便功能障碍。按照临床特点及医学影像学分为5型:终丝牵张型(69例)、脊髓纵裂型(21例)、脊髓脊膜膨出型(20例)、脂肪脊髓脊膜膨出型(36例)、皮窦道型(25例)。对不同类型的TCS采取相应的显微手术治疗,以Kirollos分级评定手术拴系松解程度,以视觉模拟疼痛评分(visual analogue scale, VAS)评估疼痛情况,采用关键肌肉力量0~5级评分评价下肢运动功能,用日本骨科协会(Japanese Orthopaedic Association,JOA)括约肌功能评分评价膀胱功能。 171例患者均经显微手术松解粘连,切断终丝,其中61例将伴随病灶也分离切除。脊髓拴系均达到Kirollos Ⅰ级松解,均重建硬膜囊。除5例脑脊液漏切口愈合不良外,其余无手术并发症,经过再次缝合加俯卧位,伤口均愈合。患者术后疼痛缓解或消失,双下肢无力和大小便功能障碍症状也逐渐恢复。随访时间6个月至12.5年,平均(5.62±2.31)年,153例患者的脊髓功能状态好转,18例稳定,无恶化病例,随访期间未见再拴系。 成人原发性TCS按临床特点及医学影像学分为5种类型,按照分型制定手术策略,手术解除脊髓牵张及压迫,恢复正常的解剖结构,预防再粘连,相应的显微手术治疗效果满意。
Publicações recentes
Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.
Is There a Correlation between the position of conus medullaris and the clinical presentation and surgical outcomes in primary tethered cord Syndrome?
🥉 Relato de casoThe Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.
Disparities in Indications and Outcomes Reporting for Spinal Column Shortening for Tethered Cord Syndrome: The Need for a Standardized Approach.
[Classification and microsurgical treatment of primary tethered cord syndrome in adults].
📚 EuropePMC12 artigos no totalmostrando 6
Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.
Journal of child neurologyIs There a Correlation between the position of conus medullaris and the clinical presentation and surgical outcomes in primary tethered cord Syndrome?
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaThe Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.
International braz j urol : official journal of the Brazilian Society of UrologyDisparities in Indications and Outcomes Reporting for Spinal Column Shortening for Tethered Cord Syndrome: The Need for a Standardized Approach.
Spine[Classification and microsurgical treatment of primary tethered cord syndrome in adults].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesUrological presentations of adult primary tethered cord syndrome.
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.
- Is There a Correlation between the position of conus medullaris and the clinical presentation and surgical outcomes in primary tethered cord Syndrome?Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2025· PMID 40967175mais citado
- The Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.International braz j urol : official journal of the Brazilian Society of Urology· 2025· PMID 39556851mais citado
- Disparities in Indications and Outcomes Reporting for Spinal Column Shortening for Tethered Cord Syndrome: The Need for a Standardized Approach.
- [Classification and microsurgical treatment of primary tethered cord syndrome in adults].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences· 2023· PMID 37534645mais citado
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:268861(Orphanet)
- MONDO:0017086(MONDO)
- GARD:4018(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q386346(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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