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.
Introdução
O que você precisa saber de cara
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.
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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
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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
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🇧🇷 Atendimento SUS — Disrafismo espinhal fechado
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Publicações mais relevantes
Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
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.
Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.
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.
Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.
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.
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.
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.
Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
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
Saccular Limited Dorsal Myeloschisis: A New Indication for Prenatal Surgery? Case Series and Scoping Review.
Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
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.
Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
📚 EuropePMC36 artigos no totalmostrando 75
Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
Prenatal diagnosisSpinal 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 NeurosurgeryPredictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
World neurosurgeryDelayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
CureusMicrosurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaClosed spinal dysraphism: Think about it in the case of enuresis in children.
Radiology case reportsDevelopment of a machine learning model for predicting renal damage in children with closed spinal dysraphism.
BMC pediatricsFetal imaging approach to spinal dysraphism diagnosis.
Pediatric radiologyA 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 NeurosurgeryA silent malformation: Closed spinal dysraphism in a boy with urinary incontinence.
Radiology case reportsRhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant.
Clinical neuropathologyLong-term efficacy of Mirabegron-anticholinergic combination in paediatric neurogenic bladder.
Journal of pediatric urologySacral spinal canal lipoma induced tethered lower cord syndrome: A case report.
Radiology case reportsImage characteristics of retained medullary cord in secondary neurulation arrest: an observational study.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAssociações
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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.
- Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
- 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
- Development of a machine learning model for predicting renal damage in children with closed spinal dysraphism.
- 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
- Predictors of Postoperative Incisional Cerebrospinal Fluid Leak of Closed Spinal Dysraphism in Different Age Groups.
- Saccular Limited Dorsal Myeloschisis: A New Indication for Prenatal Surgery? Case Series and Scoping Review.
- Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:645202(Orphanet)
- MONDO:0000859(MONDO)
- GARD:10787(GARD (NIH))
- 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
