Raras
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Disrafismo espinhal fechado
ORPHA:645202CID-10 · Q76.0CID-11 · LB73.0DOENÇA RARA

Grupo raro de disrafismos espinhais, também conhecido como espinha bífida oculta, com elevada variabilidade em termos de gravidade, caracterizado por ausência de tecido neural exposto. A pele sobre a anomalia permanece intacta, embora a pele em si possa ser anormal, com características como manchas pilosas, fossetas ou hemangiomas. Estas características da pele são conhecidas como estigmas cutâneos de disrafismo espinal.

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Introdução

O que você precisa saber de cara

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Defeitos do tubo neural (DTN) são um grupo de defeitos congênitos nos quais uma abertura na coluna vertebral ou no crânio permanece desde o início do desenvolvimento humano. Na terceira semana de gravidez, chamada gastrulação, células especializadas na parte dorsal do embrião começam a mudar de forma e a formar o tubo neural. Quando o tubo neural não se fecha completamente, um DTN se desenvolve.

Publicações científicas
107 artigos
Último publicado: 2026 Apr 16
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SUS: Cobertura mínimaScore: 15%
CID-10: Q76.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico107PubMed
Últimos 10 anos79publicações
Pico202515 papers
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2026Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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🇧🇷 Atendimento SUS — Disrafismo espinhal fechado

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Publicações mais relevantes

Timeline de publicações
81 papers (10 anos)
#1

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.

Prenatal diagnosis2026 Feb

To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). This retrospective single-centre study included fetuses diagnosed with non-genetic, non-syndromic CSD between January 2018 and June 2023. Prenatal ultrasound and MRI findings were reviewed, with postnatal outcomes assessed in those managed expectantly, focusing on neurosurgical interventions, motor function, and urologic and bowel outcomes. Eighteen cases were identified; twelve opted for expectant management and had postnatal follow-up. The most common lesion was dysraphic spinal cord lipoma (10/18, 55.6%), followed by limited dorsal myeloschisis (3/18, 16.7%), myelocystocele (3/18, 16.7%) and meningocele (2/18, 11.0%). Chiari malformation and related brain abnormalities were absent at the time of diagnosis in all cases. Most fetuses (88.9%, 16/18) had a low-lying conus medullaris, and 70.6% (12/17) had a sac wall thickness ≥ 2 mm. Postnatally, 75% (9/12) underwent surgical detethering. At ≥ 30 months, all children could walk independently with or without orthoses. However, urologic complications were common in children age ≥ 48 months: 80% (4/5) required clean intermittent catheterization (CIC), 60% (3/5) had urinary incontinence, and 40% (2/5) experienced bowel incontinence. Prenatal imaging features at the lesion level are key for diagnosing CSD. While motor outcomes are favorable, urologic and bowel dysfunctions are frequent in postnatal life.

#2

Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia2025 Dec

Lumbar (non-terminal) myelocystocele is a rare form of closed spinal dysraphism which is characterized by posterior bony defect [1-3], a herniated segment of the spinal cord associated with cystic dilatation of the central canal [1-3], and surrounded by cyst filled with CSF in the subarachnoid space i.e. cyst-within-a-cyst. [1-4] The mass is covered by intact skin and variable amounts of subcutaneous fat which is often attached to neural tissue. [1-3] Surgery is advocated to untether the cord and reconstruct the neural tube which will prevent further neurological deterioration. [1-3] In this video, we present the case of a 7-month-old boy who was presented with skin skin-covered lumbar mass after birth. He had left foot drop with no movement in the toes and right foot inversion with associated weakness in the toes. There were no developmental delays and he did not have anorectal anomalies. Magnetic Resonance Imaging (MRI) spine confirmed the diagnosis of lumbar myelocystocele, and urinary flow studies showed good bladder capacity with reasonable voids. The patient underwent spinal cord untethering, neurulation of the neural placode, and duraplasty with an artificial dural graft to increase the cord-sac ratio. [5-7] Postoperative motor power was similar to baseline. The urinary catheter was removed three weeks after surgery with adequate voiding. The were no concerns related to the wound. The parents consented to the procedure and the publication of the patient's video. Institutional Review Board approval was not required.

#3

Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.

BMC pediatrics2025 Aug 01

Renal damage in closed spinal dysraphism (CSD), primarily linked to neurogenic bladder dysfunction, significantly impacts long-term patient outcomes by increasing the risk of chronic kidney disease. Identifying patients at highest risk for renal damage is essential for implementing early interventions, improving bladder management strategies, and preserving renal function. This study aims to develop an effective machine learning model to predict renal damage in children with CSD. This retrospective study included 110 children with CSD. We developed four machine learning models (logistic regression, support vector machine, decision tree, and extreme gradient boosting [XGBoost]), and compared their predictive performances. The area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis were used to evaluate predictive performance. The Shapley additive explanations (SHAP) algorithm and Local Interpretable Model-Agnostic Explanations (LIME) were used to interpret the optimal model. The XGBoost model showed the best predictive performance (AUC = 0.957) among the four machine learning models. Through the SHAP analysis, abnormal radiological lower urinary tract findings, female sex, and high-grade vesicoureteral reflux were identified as the three most influential features in predicting renal damage. Our study effectively developed a model that accurately predicted renal damage in children with CSD based on the XGBoost algorithm, demonstrating its potential to achieve good predictive performance.

#4

Spinal dysraphism in adulthood: do they have different symptoms and outcomes? Evaluating the impact on the Quality of Life and the need for transitional care from pediatric to adult population.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025 Dec 03

Spinal lipomas are common forms of closed spinal dysraphism, typically diagnosed in childhood but sometimes remaining unrecognized until adulthood. Adult presentation often includes pain, sensory disturbances, and urogenital dysfunction. While pediatric surgical management is well studied, adult outcomes, especially psychosocial ones, remain poorly understood. This study evaluates surgical, neurological, and psychosocial outcomes in adults undergoing their first surgery, comparing them with those of patients treated in childhood and followed into adulthood. It also emphasizes the importance of transitional care across the lifespan. This retrospective cohort study included 24 patients treated at a single institution: 12 adults (SDA) undergoing first-time surgery from 2022 to 2023, and 12 historical controls (PSD) treated in childhood (2000 to 2005). Pre- and postoperative data were collected using a 14-item questionnaire assessing neurological, functional, and psychosocial outcomes. Statistical comparisons were performed within and between groups. The median age at surgery was 30 years in SDA vs. 2 years in PSD. 75% of SDA patients had never been previously diagnosed with spinal dysraphism. Only urinary continence showed significant improvement neurologically in SDA patients (p = 0.025). However, psychosocial outcomes including pain, quality of life, social participation, and self-esteem, significantly improved postoperatively in the adult group. No surgical complications occurred in SDA; two CSF leaks were observed in PSD. Comparison of long-term outcomes revealed similar results across groups, except for a higher level of self-esteem in PSD patients (p = 0.039). Surgical treatment of spinal lipomas in adulthood can provide meaningful symptomatic and psychosocial benefits, even without gross-total resection. This study underscores the limitations of viewing spinal dysraphism through a strict pediatric-adult binary and highlights the need for individualized, stage-specific care. The findings advocate for structured, lifelong transitional care pathways that integrate psychological and social support, addressing the full spectrum of patient well-being.

#5

Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.

World neurosurgery2025 Dec

To compare the postoperative incisional cerebrospinal fluid (CSF) leak rates of closed spinal dysraphism (SD) and identify significant predictors in different age groups. We retrospectively collected the data of patients who underwent surgeries of closed SD at our hospital between January 2017 and December 2022. Patients were grouped based on age as preschool children, school children, adolescents, and adults. Pearson's χ2 test, Fisher's exact test, and logistic regression were used to analyze 18 possible predictors of postoperative incisional CSF leak. This retrospective cohort study totally included 1226 patients. Incisional CSF leak rates differed significantly among 4 groups (χ2 = 38.739, P < 0.001) and between preschool children and school children (P = 0.025), adolescents (P < 0.001), and adults (P < 0.001), respectively. Dangerous factor in preschool children was spinal dural repair with a dural substitute (odds ratio [OR] = 21.734, P = 0.038) and surgical site infection (OR = 87.426, P = 0.001), in adolescents was scoliosis/kyphosis (OR = 7.849, P = 0.043), and in adults was wound infection (OR = 8.805, P = 0.016). Using synthetic bone substitute (OR = 0.160, P = 0.049) was protective for school children. Different age groups show distinct rates and predictors of postoperative incisional CSF leak of closed SD. Realizing and managing the predictors in different ages contributes to reducing postoperative incisional CSF leak and improving surgical outcomes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC36 artigos no totalmostrando 75

2026

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.

Prenatal diagnosis
2025

Spinal dysraphism in adulthood: do they have different symptoms and outcomes? Evaluating the impact on the Quality of Life and the need for transitional care from pediatric to adult population.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.

World neurosurgery
2025

Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.

Cureus
2025

Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Closed spinal dysraphism: Think about it in the case of enuresis in children.

Radiology case reports
2025

Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.

BMC pediatrics
2025

Fetal imaging approach to spinal dysraphism diagnosis.

Pediatric radiology
2025

A rare case of retained medullary cord with sacral subcutaneous meningocele and thoracic arachnoid cyst.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

A silent malformation: Closed spinal dysraphism in a boy with urinary incontinence.

Radiology case reports
2025

Rhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant.

Clinical neuropathology
2025

Long-term efficacy of Mirabegron-anticholinergic combination in paediatric neurogenic bladder.

Journal of pediatric urology
2025

Sacral spinal canal lipoma induced tethered lower cord syndrome: A case report.

Radiology case reports
2024

Image characteristics of retained medullary cord in secondary neurulation arrest: an observational study.

Scientific reports
2025

Pacinioma of Lumbosacral Skin in Closed Spinal Dysraphism.

Journal of cutaneous pathology
2024

An Easy and Effective Method for Evaluating the Position of Conus Medullaris: Counting the Number of Vertebral Ossification Center Below the End of Conus Medullaris.

Ultrasound in medicine &amp; biology
2023

Complex Closed Spinal Dysraphism Presenting As Cauda Equina Syndrome With Faun Tail Nevus.

Cureus
2024

Prenatal diagnosis and postnatal outcome of closed spinal dysraphism.

Prenatal diagnosis
2023

Ultrasound-Guided Prospective Screening for Spinal Dysraphism in Offspring of Mothers With Pregestational Diabetes: A Pilot Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2023

Parental perception of contrast enhanced voiding ultrasonography urodynamics vs fluoroscopic urodynamics.

Journal of pediatric urology
2023

Retained medullary cord and caudal lipoma with histopathological presence of terminal myelocystocele in the epidural stalk.

Surgical neurology international
2023

Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Neurologia medico-chirurgica
2023

Gastrulation and Split Cord Malformation.

Advances and technical standards in neurosurgery
2023

Prophylactic Spinal Cord Untethering in Children with Spinal Dysraphism Undergoing Thoracolumbar Fusion for Scoliosis.

World neurosurgery
2023

Prenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review.

Reproductive sciences (Thousand Oaks, Calif.)
2023

Ectopic dorsal root ganglion in cauda equina mimicking schwannoma in a child.

Surgical neurology international
2023

A rare case of thoracic lipomyelomeningocele in a young female: A case report.

Radiology case reports
2023

Correlation of urodynamic studies and somatosensory evoked potential and their prognostic value in children with closed spinal dysraphism.

Journal of pediatric urology
2022

Prenatal assessment and pregnancy outcomes of foetal low-lying conus medullaris using 3D ultrasound.

BMC pregnancy and childbirth
2023

Ischemic myelomalacia and closed spinal dysraphism in multiple finishing swine.

Veterinary pathology
2023

Electrodiagnosis has a potential to identify neural damage in asymptomatic infants with closed spinal dysraphism.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Late diagnosis of dorsolumbar lipomyelomeningocele with tethered cord in a middle aged adult: A case report from Nepal.

Radiology case reports
2022

Closed spinal dysraphism-lipomyelocele in an 18-year-old male.

The Pan African medical journal
2022

Avoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Tethered Cord Syndrome Associated With Lumbar Lipomyelomeningocele: A Case Report.

Cureus
2022

Retained Medullary Cord Associated with Terminal Myelocystocele and Intramedullary Arachnoid Cyst.

Pediatric neurosurgery
2022

Intramedullary abscess at thoracolumbar region transmitted from infected dermal sinus and dermoid through retained medullary cord.

Surgical neurology international
2022

Preoperative Videourodynamic Study Is Helpful in Predicting Long-term Postoperative Voiding Function in Asymptomatic Patients With Closed Spinal Dysraphism.

International neurourology journal
2022

Expanding the clinical phenotype of FGFR1 internal tandem duplication.

Cold Spring Harbor molecular case studies
2021

Spinal Dysraphisms: A New Anatomical-Clinicoradiological Classification.

The Indian journal of radiology &amp; imaging
2021

Multimodality Imaging Evaluation of Fetal Spine Anomalies with Postnatal Correlation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2022

Retained medullary cord and terminal myelocystocele as a spectrum: case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Intraoperative Neuromonitoring for Tethered Cord Surgery in Infants: Challenges and Outcome.

Pediatric neurosurgery
2021

Surgical histopathology of a filar anomaly as an additional tethering element associated with closed spinal dysraphism of primary neurulation failure.

Surgical neurology international
2021

Three-Dimensional Sonographic Evaluation of the Position of the Fetal Conus Medullaris at First Trimester.

Fetal diagnosis and therapy
2021

Patterns of spinal cord malformation in cloacal exstrophy.

Journal of neurosurgery. Pediatrics
2021

Subpial Lumbar Lipoma Associated with Retained Medullary Cord.

NMC case report journal
2021

Closed spinal dysraphism in a 6-month-old mixed breed dog.

Veterinarni medicina
2021

Prenatal ultrasound diagnosis of neural tube defects in the era of intrauterine repair - Eleven years' experiences.

Taiwanese journal of obstetrics &amp; gynecology
2020

Congenital Dermal Sinus Elements in Each Tethering Stalk of Coexisting Thoracic Limited Dorsal Myeloschisis and Retained Medullary Cord.

Pediatric neurosurgery
2021

Tethered spinal cord related to caudal spinal dysraphism in a tailless Holstein calf.

The Journal of veterinary medical science
2021

Congenital Midline Spinal Hamartoma in a 5-Month-Old Infant.

World neurosurgery
2020

Expression Patterns of Hypoxia-Inducible Factors, Proinflammatory, and Neuroprotective Cytokines in Neuroepithelial Tissues of Lumbar Spinal Lipomas-A Pilot Study.

World neurosurgery
2020

Enlargement of Extraspinal Cysts in Spinal Dysraphism : A Reason for Early Untethering.

Journal of Korean Neurosurgical Society
2020

Secondary Neurulation Defects-1 : Retained Medullary Cord.

Journal of Korean Neurosurgical Society
2020

Syringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention.

Journal of neurosurgery. Pediatrics
2021

Unveiling the tale of the tail: an illustration of spinal dysraphisms.

Neurosurgical review
2020

Urological presentations of adult primary tethered cord syndrome.

Neurourology and urodynamics
2020

Neonatal intraoperative neuromonitoring in thoracic myelocystocele: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Repair of lumbar vertebral bone defects by bone particles combined with hUC-MSCs in weaned rabbit.

Regenerative medicine
2020

Retained medullary cord with sacral subcutaneous meningocele and congenital dermal sinus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

[Acute parainfectious transverse myelitis with radiculitis in a child with closed spinal dysraphism].

Revista de neurologia
2019

Anaesthetic management for caesarean section of a parturient with a known difficult airway and closed spinal dysraphism.

International journal of obstetric anesthesia
2018

Comparison of neurogenic lower urinary tract dysfunctions in open versus closed spinal dysraphism: A prospective cross-sectional study of 318 patients.

Neurourology and urodynamics
2018

Enlargement of sacral subcutaneous meningocele associated with retained medullary cord.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Acute Communicating Hydrocephalus as Spinal Cord Surgery Complication in Patient with Lumbar Lipomyelocele.

World neurosurgery
2018

Intradetrusor Injections of Botulinum Toxin Type A in Children With Spina Bifida: A Multicenter Study.

Urology
2018

Fatty filum terminale (FFT) as a secondary tethering element in children with closed spinal dysraphism.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Retained medullary cord extending to a sacral subcutaneous meningocele.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Predictors of permanent disability among adults with spinal dysraphism.

Journal of neurosurgery. Spine
2017

Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review.

World journal of radiology
2017

Ossified dysraphic hamartoma with lipomyelocoele/lipomyelomeningocoele-A rare radiological entity.

Clinical imaging
2016

Ultrasonography and magnetic resonance imaging evaluation of pediatric spinal anomalies.

Journal of pediatric neurosciences
2016

Sonographic images of fetal terminal myelocystocele: a rare form of closed spinal dysraphism.

Acta neurologica Belgica
2015

Intracranial hemorrhage following surgery for occult spinal dysraphism: a case-based update.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
    Prenatal diagnosis· 2026· PMID 41419435mais citado
  2. Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2025· PMID 41005219mais citado
  3. Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.
    BMC pediatrics· 2025· PMID 40751187mais citado
  4. Spinal dysraphism in adulthood: do they have different symptoms and outcomes? Evaluating the impact on the Quality of Life and the need for transitional care from pediatric to adult population.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2025· PMID 41339540mais citado
  5. Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
    World neurosurgery· 2025· PMID 41109478mais citado
  6. Saccular Limited Dorsal Myeloschisis: A New Indication for Prenatal Surgery? Case Series and Scoping Review.
    Fetal Diagn Ther· 2026· PMID 41989971recente
  7. Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
    Cureus· 2025· PMID 41103844recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:645202(Orphanet)
  2. MONDO:0000859(MONDO)
  3. GARD:10787(GARD (NIH))
  4. Busca completa no PubMed(PubMed)

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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Disrafismo espinhal fechado
Compêndio · Raras BR

Disrafismo espinhal fechado

ORPHA:645202 · MONDO:0000859
CID-10
Q76.0 · Espinha bífida oculta
CID-11
MedGen
UMLS
C0080174
EuropePMC
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