Forma rara de espinha bífida quística (defeito do tubo neural (DTN) aberto, sacular) caracterizada por uma medula espinhal não neurulada (placóide neural) na superfície da extensão quística de meninges displásicas (meningocele posterior não epidermizada). A medula espinhal estende-se através de uma espinha bífida (defeito vertebral posterior) com lâminas tipicamente evertidas ou paralelas. As raízes nervosas são conectadas às bordas do placóide neural e são visíveis dentro do saco. A mielomeningocele é caracteristicamente associada a malformação de Chiari II. Pode ser isolada ou associada à malformação da medula dividida.
Introdução
O que você precisa saber de cara
Defeitos do tubo neural (DTNs) 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, desenvolve-se um DTN.
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Publicações mais relevantes
Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
How hydrocephalus rates and brain development differ between myelomeningocele (MMC; with overlying sac) and myeloschisis (without overlying sac) is poorly understood. In this study, the authors compare rates of and age at CSF diversion as well as brain anatomy in patients with MMC and myeloschisis after prenatal and postnatal repair. Demographic and clinical data were retrospectively collected from open spinal dysraphism patients who underwent prenatal or postnatal repair between 2015 and 2024 at Washington University in St. Louis. The need for and timing of permanent CSF diversion and brain imaging characteristics on the first postnatal MRI examination were compared by lesion type (myeloschisis vs MMC). The following imaging characteristics were examined: ventricular anatomy; corpus callosum, massa intermedia, tectum, and septum pellucidum morphology; the presence of gray matter heterotopias; hindbrain herniation; and medullary kinking/compression/displacement below foramen magnum. A total of 98 patients (48% female, 88% Caucasian) were included. There were 21 (21%; 9 prenatal repair, 12 postnatal repair) myeloschisis and 77 (79%; 29 prenatal repair, 48 postnatal repair) MMC patients with similar distribution of lesion levels (p = 0.115). After both prenatal (relative risk [RR] 2.17, 95% CI 1.14-5.62) and postnatal (RR 1.33, 95% CI 1.07-1.65) repair, more patients with myeloschisis than MMC required CSF diversion. Those with prenatally repaired MMC (median 94 days, range 15-154 days) underwent CSF diversion earlier than those with myeloschisis (median 210 days, range 13-357 days) (Hodges-Lehmann Δ114, 95% CI 2-226). However, this was no longer significant after adjusting for fetal atrial diameter, the presence of hindbrain herniation, and medullary compression (β = 75 days, 95% CI -78 to 229). There were minimal differences in brain imaging characteristics except for an increased presence of hindbrain herniation (4 [44%] myeloschisis patients vs 6 [21%] MMC patients; Δ23.8, 95% CI -11.9 to 59.4) and a decreased presence of posterior fossa crowding (2 [22%] myeloschisis patients vs 15 [52%] MMC patients; Δ30.3, 95% CI 3.0-62.1) in patients with myeloschisis versus MMC that was repaired prenatally. Patients with myeloschisis have an increased need for CSF diversion after both prenatal and postnatal repair compared to those with MMC, which may be a consequence of increased rates of hindbrain herniation. The timing of CSF diversion after prenatal repair occurs later in patients with myeloschisis, which may be a consequence of lower rates of medullary compression. These findings suggest that there may be differences in pathophysiology between lesion types and may help with patient counseling.
Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.
To compare the 30-day outcomes of infants undergoing fetal versus postnatal repair of open spina bifida (OSB) who met the equivalent eligibility criteria. A retrospective study of consecutive patients who underwent OSB repair (2018-2022) by a consistent pediatric neurosurgical team. All met the MOMS trial fetal surgery criteria. Primary outcomes included cerebrospinal fluid (CSF) complications, motor function, wound complications and non-neurosurgical neonatal complications within 30 days of birth. Among 109 myelomeningocele repairs (82 fetal and 27 postnatal), postnatal repairs had higher mean birthweight (3116.8 vs. 2477.8 g; p < 0.01) and gestational age at delivery (38 + 1 vs. 34 + 4 weeks + days; p < 0.01). Neonates with fetal repair were less likely to require hydrocephalus treatment (9% vs. 56%, p < 0.01) or have CSF leak (1% vs. 19%, p < 0.01). Wound infection (5.2% vs. 14.8%; p = 0.10) and dehiscence (2.6% vs. 14.8%; p = 0.09) rates were comparable. Respiratory distress syndrome was more frequent with fetal surgery (43% vs. 4%; p < 0.004), although neonatal intensive care (NICU) admission (34% vs. 26%) and neonatal hospital stay were comparable (fetal repair: 15.2 days ± 2.1 vs. postnatal repair: 14.8 days ± 3.1, p = 0.91). Open fetal repair was associated with earlier delivery but with comparable NICU and hospital stay and lower hydrocephalus treatment rate at 1 month of age.
Prenatal Closure of Myeloschisis vs Myelomeningocele: Insights From the fMMC Consortium Registry.
Myelomeningocele is defined by the presence of a fluid-filled sac that contains the neural placode and cerebrospinal fluid (CSF) at the level of the spinal defect. Alternatively, the term myeloschisis is used when the neural placode is not contained within a CSF-filled sac. While both are eligible for prenatal closure, few studies have characterized the impact of the type of lesion on postnatal outcomes. This study compares the outcomes of these 2 types of open spinal dysraphism using data from the Fetal Myelomeningocele Consortium registry sponsored by the North American Fetal Therapy Network. The prospective observational Fetal Myelomeningocele Consortium registry was used to extract deidentified data corresponding to patients who underwent fetal closure of myelomeningocele vs myeloschisis. Demographics, operative characteristics, perioperative complications, and postnatal outcomes were collected. A total of 1327 patients were identified, including 991 (74.7%) with myelomeningocele and 336 (25.3%) with myeloschisis. Compared with myelomeningocele, myeloschisis was associated with lower rates of prenatal talipes (11% vs 24%, P < .001) and higher rates of favorable prenatal movement (94% vs 86%, P < .001). Postnatally, myeloschisis conferred higher rates of leg movement (97% vs 90%, P = .002) and an increased likelihood of ambulation in the household (10.4% vs 4.1%, P = .009) and outside (7.2% vs 1.9%, P = .004) at 1 year. However, myeloschisis was also linked to greater use of skin patches during closure (49% vs 27%, P < .001), higher CSF leak rates among those with wound dehiscence (26% vs 8%, P = .014), and more frequent CSF diversion and tethered cord surgeries at follow-up. Myeloschisis and myelomeningocele demonstrate distinct clinical profiles. Although patients with myeloschisis may have favorable motor outcomes, they are also characterized by higher rates of CSF leakage, CSF diversion, and tethered cord surgery. These findings highlight the need for lesion-specific prognostication and may inform surgical planning and parental counseling in the context of prenatal spina bifida closure.
Open fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.
Introduction. Spina bifida, particularly its most common form, myelomeningocele (MMC), is a severe congenital malformation associated with high neonatal morbidity and long-term disability. Since 2015, our center has been performing intrauterine repair of MMC using a modified open surgical technique. Objective. To describe the obstetric and perinatal outcomes, the need for treatment of hydrocephalus, and the ability to walk in children who underwent open fetal surgery for repair of spinal dysraphism, and to compare these data with those published in the Management of Myelomeningocele Study (MOMS). Population and methods. Retrospective observational study of 102 consecutive cases operated on between 2015 and 2023. Maternal, neonatal, and neurological variables were analyzed in the mediumterm follow-up. Results. The mean gestational age at the time of surgery was 26.1 weeks. Maternal and neonatal complication rates were similar to or lower than those reported in the MOMS study. The need for ventriculoperitoneal shunting at 12 months was 23.8%. At 30 months, 84.8% of patients were walking with or without orthopedic devices. Conclusion. Open fetal repair of MMC at our center, performed by a multidisciplinary team using a modified surgical technique, presented a favorable maternal-fetal safety profile. The perinatal and neurological outcomes obtained are comparable to those of international reference centers, with a low rate of ventriculoperitoneal shunting and a high percentage of children able to walk at 30 months of age. These findings support the continuation and optimization of this intervention in experienced centers. Introducción. La espina bífida, particularmente su forma más frecuente, el mielomeningocele (MMC), constituye una malformación congénita grave asociada a elevada morbilidad neonatal y discapacidad a largo plazo. Desde 2015, nuestro centro realiza reparación intrauterina de MMC con una técnica quirúrgica abierta modificada. Objetivo. Describir los resultados obstétricos, perinatales, la necesidad de tratamiento de la hidrocefalia y la capacidad de deambulación en niños sometidos a cirugía fetal abierta para reparación de disrafias espinales y compararlos con los datos publicados en el estudio MOMS (Management of Myelomeningocele Study). Población y métodos. Estudio observacional retrospectivo de 102 casos consecutivos intervenidos entre 2015 y 2023. Se analizaron variables maternas, neonatales y neurológicas en el seguimiento a mediano plazo. Resultados. La edad gestacional media al momento de la cirugía fue de 26.1 semanas. Las tasas de complicaciones maternas y neonatales fueron similares o inferiores a las reportadas en el estudio MOMS. La necesidad de derivación ventriculoperitoneal a los 12 meses fue del 23,8 %. A los 30 meses, el 84,8 % de los pacientes deambuló con o sin dispositivos ortopédicos. Conclusión. La reparación fetal abierta del MMC en nuestro centro, realizada por un equipo multidisciplinario con una técnica quirúrgica modificada, presentó un perfil de seguridad materno-fetal favorable. Los resultados perinatales y neurológicos obtenidos son comparables a los de centros de referencia internacionales, destacándose una baja tasa de derivación ventriculoperitoneal y un alto porcentaje de niños con capacidad de deambulación a los 30 meses. Estos hallazgos respaldan la continuidad y optimización de esta intervención en centros con experiencia.
Double jeopardy in early infancy: aperta lipomyelomeningocele with Chiari II malformation complicated by infantile hypertrophic pyloric stenosis.
Aperta lipomyelomeningocele (LMMC) is a form of open spinal dysraphism often associated with Chiari II malformation. Infantile hypertrophic pyloric stenosis (IHPS), the leading surgical cause of gastric-outlet obstruction in early infancy, has rarely been reported alongside LMMC and Chiari II. We present a term male neonate who underwent early repair of lumbosacral LMMC and later ventriculo-peritoneal (VP) shunting for post-haemorrhagic hydrocephalus. Persistent non-bilious vomiting despite functional shunting led to imaging that confirmed IHPS. The infant required a phased surgical approach, combining Ramstedt pyloromyotomy with simultaneous VP shunt revision, followed by extended multidisciplinary rehabilitation. The coexistence of these three distinct congenital anomalies produced overlapping symptoms and delayed IHPS diagnosis. This case emphasises the need for vigilant reassessment of ongoing gastrointestinal symptoms in children with neural tube defects and explores embryological links between these conditions. Recognising such rare associations is vital for timely intervention and improved outcomes.
Publicações recentes
Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.
Double jeopardy in early infancy: aperta lipomyelomeningocele with Chiari II malformation complicated by infantile hypertrophic pyloric stenosis.
Open fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.
Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes.
Closing the Gap: Prenatal Repair and the Reimagined Future of Spina Bifida.
📚 EuropePMCmostrando 156
Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
Journal of neurosurgery. PediatricsOpen Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.
Prenatal diagnosisPrenatal Closure of Myeloschisis vs Myelomeningocele: Insights From the fMMC Consortium Registry.
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Fetal diagnosis and therapyOpen Fetal Microneurosurgery for Intrauterine Spina Bifida Repair.
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Journal of pediatric rehabilitation medicineGuidelines and scientifically-based spina bifida care: Guidance across the lifespan in a global health context.
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BMJ case reportsDiagnostic accuracy of prenatal ultrasound in identifying the level of the lesion in fetuses with open spina bifida: A systematic review and meta-analysis.
Acta obstetricia et gynecologica ScandinavicaPrenatal predictors of motor function in children with open spina bifida: a retrospective cohort study.
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Fetal diagnosis and therapyUrological Outcome after Fetal Spina Bifida Repair: Data from the Zurich Cohort.
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Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyFour-hour voiding observation with provocation test reveals significant abnormalities of bladder function in newborns with spinal dysraphism.
Journal of pediatric urologyPosterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities?
World neurosurgeryRetrieving the Moral in the Ethics of Maternal-Fetal Surgery.
Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committeesEnlargement of Extraspinal Cysts in Spinal Dysraphism : A Reason for Early Untethering.
Journal of Korean Neurosurgical SocietySpontaneous closure of myelomeningocele.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFirst trimester detection of fetal open spina bifida using BS/BSOB ratio.
Archives of gynecology and obstetricsUnveiling the tale of the tail: an illustration of spinal dysraphisms.
Neurosurgical reviewMyelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyConcepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach.
Birth defects researchContemporary management and outcome of myelomeningocele: the Rotterdam experience.
Neurosurgical focusBioengineering of Fetal Skin: Differentiation of Amniotic Fluid Stem Cells into Keratinocytes.
Fetal diagnosis and therapyFetal surgery for spina bifida.
Journal of neurosurgery. PediatricsSouth African adolescents living with spina bifida: contributors and hindrances to well-being.
Disability and rehabilitationPrenatal and postnatal MRI findings in open spinal dysraphism following intrauterine repair via open versus fetoscopic surgical techniques.
Prenatal diagnosisEndoscopic fetal surgery for neural tube defects.
Best practice & research. Clinical obstetrics & gynaecologyLearning curves of open and endoscopic fetal spina bifida closure: systematic review and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyComparison of brain microstructure after prenatal spina bifida repair by either laparotomy-assisted fetoscopic or open approach.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyEvaluation and Disposition of Fetal Myelomeningocele Repair Candidates: A Large Referral Center Experience.
Fetal diagnosis and therapyBenchmarking against the MOMS Trial: Zurich Results of Open Fetal Surgery for Spina Bifida.
Fetal diagnosis and therapyDoes fetoscopic or open repair for spina bifida affect fetal and postnatal growth?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyMyelomeningocele Versus Myelocele on Fetal MR Images: Are There Differences in Brain Findings?
AJR. American journal of roentgenologyPrenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySpontaneous Pneumocephalus Secondary to Leaking Myelomeningocele.
Journal of pediatric neurosciencesOpen Spina Bifida: Why Not Fetal Surgery?
Fetal diagnosis and therapyClinical and Histologic Evaluation of the Hysterotomy Site and Fetal Membranes after Open Fetal Surgery for Fetal Spina Bifida Repair.
Fetal diagnosis and therapyFetal surgery for spina bifida aperta.
Archives of disease in childhood. Fetal and neonatal editionIn utero open surgery: progress or stagnation in the prenatal management of spina bifida?
BJOG : an international journal of obstetrics and gynaecologyHomologous cryopreserved amniotic membrane in the repair of myelomeningocele: preliminary experience.
Acta neurochirurgicaUpdates in fetal spina bifida repair.
Current opinion in obstetrics & gynecologyPercutaneous fetoscopic closure of large open spina bifida using a bilaminar skin substitute.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyIn utero Plastic Surgery in Zurich: Successful Use of Distally Pedicled Random Pattern Transposition Flaps for Definitive Skin Closure during Open Fetal Spina Bifida Repair.
Fetal diagnosis and therapyEarly postnatal bladder function in fetoscopic myelomeningocele repair patients.
Journal of pediatric rehabilitation medicinePrenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPredictors of permanent disability among adults with spinal dysraphism.
Journal of neurosurgery. SpineImaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review.
World journal of radiologySonographic detection of open spina bifida in the first trimester: review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations.
Fetal diagnosis and therapyHindbrain Herniation in Chiari II Malformation on Fetal and Postnatal MRI.
AJNR. American journal of neuroradiologyFetoscopic Open Neural Tube Defect Repair: Development and Refinement of a Two-Port, Carbon Dioxide Insufflation Technique.
Obstetrics and gynecologyReverse Thermal Gel for In Utero Coverage of Spina Bifida Defects: An Innovative Bioengineering Alternative to Open Fetal Repair.
Macromolecular bioscienceCurrent Management Strategies of Hydrocephalus in the Child With Open Spina Bifida.
Topics in spinal cord injury rehabilitationFetal Myelomeningocele Repair through a Mini-Hysterotomy.
Fetal diagnosis and therapySurvey on Current Postnatal Surgical Management of Myelomeningocele in Germany.
Journal of neurological surgery. Part A, Central European neurosurgeryFactors associated with the timeliness of postnatal surgical repair of spina bifida.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMyelomeningocele - a single institute analysis of the years 2007 to 2015.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFetoscopic versus Open Repair for Spina Bifida Aperta: A Systematic Review of Outcomes.
Fetal diagnosis and therapyProcedure-related complications of open vs endoscopic fetal surgery for treatment of spina bifida in an era of intrauterine myelomeningocele repair: systematic review and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyEndoscopic surgery for the antenatal treatment of myelomeningocele: the CECAM trial.
American journal of obstetrics and gynecologyA practical clinical classification of spinal neural tube defects.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrimary repair of open neural tube defect in adulthood: case example and review of management strategies.
The spine journal : official journal of the North American Spine SocietyUpdate on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood.
The Journal of urologyContinuous local anesthetic infusion for children with spina bifida undergoing major reconstruction of the lower urinary tract.
Journal of pediatric urologyMorphometric analysis of lumbar pedicles in patients with spinal dysraphism.
Pediatric neurosurgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
- Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.
- Prenatal Closure of Myeloschisis vs Myelomeningocele: Insights From the fMMC Consortium Registry.
- Open fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.
- Double jeopardy in early infancy: aperta lipomyelomeningocele with Chiari II malformation complicated by infantile hypertrophic pyloric stenosis.
- Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes.
- Closing the Gap: Prenatal Repair and the Reimagined Future of Spina Bifida.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93969(Orphanet)
- MONDO:0019773(MONDO)
- GARD:3475(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q3331925(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
