Malformação disráfica lipomatosa rara, caracterizada por um lipoma localizado total ou parcialmente no cone medular.
Introdução
O que você precisa saber de cara
Síndrome da Medula Ancorada (SMA) refere-se a um grupo de distúrbios neurológicos relacionados a malformações da medula espinhal. Várias formas incluem o filum terminale tenso, lipomeningomielocele, malformações por divisão da medula (diastematomielia), formas ocultas, tratos de seio dérmico e cistos dermoides. Todas as formas envolvem o tracionamento da medula espinhal na base do canal espinhal, literalmente uma medula ancorada. A medula espinhal normalmente pende livremente no canal, podendo se mover para cima e para baixo com o crescimento, e com a flexão e o alongamento. Uma medula ancorada, no entanto, é mantida esticada na extremidade ou em algum ponto do canal espinhal. Em crianças, uma medula ancorada pode forçar a medula espinhal a se esticar à medida que crescem.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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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 — Lipoma do cone da espinhal medula
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Lumbar Degenerative Spondylolisthesis and Synovial Facet Cyst With Adjacent Intradural Filum Terminale Lipoma: A Case Report.
Spinal lipomas of the conus medullaris and filum terminale are the most common forms of occult spinal dysraphism. Clinical presentations vary based on anatomic location and size. Filum terminale lipomas occur in up to 5% of the general population based on cadaveric and magnetic resonance imaging studies. Most filum terminale lipomas are asymptomatic and rarely require treatment. This is the first known reported case of a 64-year-old woman presenting with lumbar radiculopathy with cascading spondylolisthesis at L3 to L4 and L4 to L5, synovial facet cyst at L4 to L5, and concurrent large filum terminale lipoma. After nonoperative management strategies failed, an extensive discussion about the source of her symptoms was completed. It was believed that the primary driver of her radicular pain was the synovial cyst and spondylolisthesis at L4 to L5, despite the large size of the lipoma. Surgical treatment entailed an L4 to L5 anterior lumbar interbody fusion, posterior spinal instrumentation and fusion using robotic-assisted navigation, and decompression of the synovial cyst through a transfacet approach. Postoperatively, the patient's buttock and leg pain was resolved. She returned to work with no restrictions and reported no pain or neurological symptoms at her final follow-up. Incidental filum terminale lipomas may be safely observed when surgically managing a patient with a concurrent, adjacent, and symptomatic degenerative lumbar spondylolisthesis and synovial facet cyst. In patients undergoing surgery for symptomatic degenerative lumbar spondylolisthesis with an associated synovial facet cyst, an incidentally identified, adjacent intradural filum terminale lipoma without tethered cord symptoms can generally be managed nonoperatively, avoiding unnecessary intradural exploration and its associated risks.
Intradural contractions: spinal lipoma surgery with equivocal electromyography activity. Illustrative case.
Intradural spinal lipomas are a form of closed dysraphism and a frequent cause of tethered cord. Although usually adipocyte predominant, rare lesions may contain additional histological elements that can yield unexpected intraoperative behavior. A 13-year-old boy presented with progressive right foot deformity, distal weakness, gait limitation, and a low conus at S1-2 with a large terminal lipoma on spine MRI. He underwent detethering with debulking and L5 osteoplastic laminoplasty under intraoperative neuromonitoring (IONM). During microsurgical dissection, a pink band along the right aspect of the lipoma appeared unlike a nerve root. Targeted stimulation produced contraction within the thecal sac. The segment was isolated and divided under IONM guidance. Histopathological analysis confirmed skeletal muscle fibers intertwined with lobulated adipose tissue and fibrovascular elements of the filum terminale, consistent with a myolipoma. The patient had no postoperative sensory changes and progressed satisfactorily. Electrically evoked lipoma contraction is a physiological signature suggestive of myolipoma and can refine the extent of safe untethering. Although IONM adds value beyond evoked potential mapping by eliciting myogenic contraction and helping discriminate resectable elements from neural structures, the resulting EMG tracing becomes difficult to interpret in the presence of muscle and detethering proceeds based on visual assessment. https://thejns.org/doi/10.3171/CASE25811.
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.
Comparison of Intraspinal Abnormalities Prevalence in Congenital Scoliosis: Is Multiple Hemivertebra Associated with Higher Risk than Single Hemivertebra?
The increasing utilization of magnetic resonance imaging has facilitated the detection of intraspinal abnormalities in congenital scoliosis (CS) caused by hemivertebra. However, the risk of intraspinal abnormalities across different hemivertebra patterns remains unclear. The aim of this study was to compare the prevalence of intraspinal abnormalities between single hemivertebra and multiple hemivertebra and identify key associated risk factors. A total of 1,048 patients with CS caused by hemivertebra who received surgical correction were included. The radiographic and clinical data for each patient were collected and analyzed. Intraspinal abnormalities were present in 16.5% of patients, including syringomyelia (9.2%), lipoma filum terminale (6.0%), low-lying conus medullaris (3.1%), tethered spinal cord (2.9%), diastematomyelia (2.4%), and Chiari malformation (1.9%). Patients with multiple hemivertebra demonstrated a significantly higher intraspinal abnormalities incidence than those with single hemivertebra (24.4% vs. 14.1%, p < 0.001). In single hemivertebra (HV), 51 of 114 patients (44.7%) have intraspinal abnormalities located outside the region of bony HV, while the figure is 26 of 59 (44.1%) in patients with multiple HVs. Multivariate logistic regression showed that female sex [odds ratio (OR) = 1.800, p = 0.001], semisegmented/nonsegmented morphology (OR = 1.499, p = 0.003), and multiple hemivertebra (OR = 1.957, p = 0.001) are the risk factors of intraspinal abnormalities in all cases. Although 12.1% of all patients with intraspinal abnormalities had positive neurological findings, this was not statistically significant compared with those without intraspinal abnormalities (9.0%). Patients with multiple hemivertebra have a 1.96-fold higher risk of intraspinal abnormalities compared with those with a single hemivertebra. Importantly, intraspinal abnormalities are associated with female sex, multiple hemivertebra, and nonsegmented morphology, but not neurological symptoms, and caution should be paid to the intraspinal abnormalities outside of the bony lesions.
Adult Type II diastematomyelia with tethered cord and associated spinal anomalies: A case report.
Spinal dysraphism consists a group of congenital anomalies due to defective neural tube closure, among which diastematomyelia or split cord malformation is rare. Split cord malformation is classified into Type I and Type II, with Type II being less common and often asymptomatic. These anomalies may coexist with various spinal anomalies, as tethered cord, neural lipoma, hemimyelocele, and dorsal dermal sinus, forming a complex spectrum. Adult presentations are particularly uncommon and usually incidental. We herein report a 23-year-old male with chronic low back pain and a congenital midline lumbar swelling. Neurological examination and routine investigations were unremarkable. Magnetic resonance imaging revealed Type II diastematomyelia with two hemicords within a single dural sac from L4 to L5, low-lying conus medullaris, hemimyelocele with neural lipoma at L5-S1, tethered cord with filum terminale lipoma extending to S3-S4, and a dorsal dermal sinus tract. Despite the radiological complexity, the patient remained neurologically intact. Neurosurgical intervention was advised; however, the patient chose conservative management with close follow-up. This case highlights a rare adult presentation of complex spinal dysraphism with minimal symptoms. While diastematomyelia Type II is typically diagnosed in childhood, adult cases are infrequent and often delayed. Magnetic resonance imaging is crucial for diagnosis, particularly in asymptomatic individuals with cutaneous markers. Though surgery is generally recommended to prevent neurological decline, conservative management may be appropriate in selected stable cases. This case emphasizes the need to consider spinal anomalies in adults with chronic back pain and the importance of multidisciplinary evaluation.
Publicações recentes
Mast cell mediators in hereditary angioedema.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 82
Lumbar Degenerative Spondylolisthesis and Synovial Facet Cyst With Adjacent Intradural Filum Terminale Lipoma: A Case Report.
International journal of spine surgeryIntradural contractions: spinal lipoma surgery with equivocal electromyography activity. Illustrative case.
Journal of neurosurgery. Case lessonsPrenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
Prenatal diagnosisComparison of Intraspinal Abnormalities Prevalence in Congenital Scoliosis: Is Multiple Hemivertebra Associated with Higher Risk than Single Hemivertebra?
JB & JS open accessAdult Type II diastematomyelia with tethered cord and associated spinal anomalies: A case report.
Radiology case reportsAre dorsal column deficits inevitable in intramedullary spine tumor resection?
Journal of neurosurgery. SpineEffectiveness of conus lipoma surgery-a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySaccular Limited Dorsal Myeloschisis: A Distinct Prenatal Entity.
Fetal diagnosis and therapyA Case of Surgically Treated Adult Split Cord Malformation Type 2 with Tethered Cord Syndrome.
NMC case report journalSplit cord malformations in adults.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietySacral spinal canal lipoma induced tethered lower cord syndrome: A case report.
Radiology case reportsUpdated classification with spinal dysraphism and treatment outcomes of arteriovenous shunts below conus: a retrospective cohort study.
Journal of neurointerventional surgeryTethered cord syndrome in an adult with filum terminale lipoma: A case report.
Surgical neurology internationalCaudal Agenesis: Classification Based on the Pathoembryogenesis of the Spinal Cord.
NeurosurgeryResults of Surgical Treatment of Occult Spinal Dysraphisms-A Single Centre Experience.
Diagnostics (Basel, Switzerland)Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryComplex lumbosacral spinal cord lipomas: A longitudinal study on outcomes from a Singapore children's hospital.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaEndoscopic spinal cord untethering using a 1 cm skin incision technique in pediatrics: a technical case report.
BMC pediatricsLumbosacral lipoma in childhood, how strong is the evidence base? A systematic review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRole of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.
Neurologia medico-chirurgicaThe Current Status of the Surgical Management of Complex Spinal Cord Lipomas: Still Navigating the Labyrinth?
Advances and technical standards in neurosurgeryLipomeningocele with Tethered Cord Syndrome in an Adult: A Case Report.
JNMA; journal of the Nepal Medical AssociationSpinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.
Journal of neurosurgery. PediatricsNephrogenic rest vs immature teratoma associated with lumbosacral lipomyelomeningocele: a case report and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCo-occurrence of subcutaneous myxopapillary ependymoma, dermal sinus tract, and filum terminale lipoma: a review of the pathobiology of caudal spinal cord development and spinal cord tethering. Illustrative case.
Journal of neurosurgery. Case lessonsFibrofatty filum terminale: long-term outcomes from a Singapore children's hospital.
Journal of neurosurgery. Pediatrics[Surgery for Spinal Lipoma of the Conus Medullaris].
No shinkei geka. Neurological surgeryMultidisciplinary Management of Children with Occult Spinal Dysraphism: A Comprehensive Journey from Birth to Adulthood.
Children (Basel, Switzerland)Recurrent Tethering in Conus Lipomas: A Late Complication Not to Be Ignored.
World neurosurgeryLimited dorsal myeloschisis involving one hemicord of a split cord malformation - a "hemi-LDM".
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySacral myolipoma with involuntary contraction causing tethered cord syndrome: illustrative case.
Journal of neurosurgery. Case lessonsTethered Cord Syndrome Associated With Lumbar Lipomyelomeningocele: A Case Report.
CureusPhysiological rapid growth of spinal lipoma in the early postnatal period.
Journal of neurosurgery. PediatricsPreoperative Videourodynamic Study Is Helpful in Predicting Long-term Postoperative Voiding Function in Asymptomatic Patients With Closed Spinal Dysraphism.
International neurourology journalSpinal cord detethering without laminectomy or laminotomy.
Surgical neurology internationalRetethering risk in pediatric spinal lipoma of the conus medullaris.
Journal of neurosurgery. PediatricsPreventive Surgery for Asymptomatic Spinal Lipomas in Children.
Turkish neurosurgeryInternational survey on the management of lumbosacral cutaneous stigmata in infants with suspected occult spinal dysraphism.
Journal of neurosurgery. PediatricsPatterns of spinal cord malformation in cloacal exstrophy.
Journal of neurosurgery. PediatricsSubpial Lumbar Lipoma Associated with Retained Medullary Cord.
NMC case report journalTethered spinal cord syndrome in adults in the MRI era: recognition, pathology, and long-term objective outcomes.
Journal of neurosurgery. SpineDoes conus morphology have implications for outcome in lumbosacral lipoma?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFamilial tendency in patients with lipoma of the filum terminale.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[TETHERED CORD SYNDROME IN CHILDREN WITH DAYTIME INCONTINENCE].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urologyRapid deterioration of an asymptomatic lumbosacral lipoma due to formation of an extracanalicular syrinx: case report.
Journal of neurosurgery. PediatricsSplit cord malformation and tethered cord syndrome: case series with long-term follow-up and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUsefulness of external anal sphincter EMG recording for intraoperative neuromonitoring of the sacral roots-a prospective study in dorsal rhizotomy.
Acta neurochirurgicaEarly de-tethering: analysis of urological and clinical consequences in a series of 40 children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLimited dorsal myeloschisis with a contiguous stalk to human tail-like cutaneous appendage, associated with a lipoma of conus medullaris: A case report.
International journal of surgery case reportsReports of a Conus Cauda Tumor with Holocord Syrinx in an Adolescent Girl.
Journal of pediatric neurosciencesSacral Extradural Angiolipoma Associated with Tight Filum Terminale and Spina Bifida Coexisting with Spinal Arteriovenous Fistula.
World neurosurgeryNeurosurgical management of conus lipoma in Canada: a multi-center survey.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySurgical outcomes by sectioning a filum terminale in patients with terminal syringomyelia.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySyringomyelia in children with closed spinal dysraphism: long-term outcomes after surgical intervention.
Journal of neurosurgery. PediatricsFilum terminale lipoma revealed by screening spinal ultrasonography in infants with simple sacral dimple.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-term urological outcomes of spinal lipoma after prophylactic untethering in infancy: real-world outcomes by lipoma anatomy.
Spinal cordSpinal cord anomalies in children with anorectal malformations: Ultrasound is a good screening test.
Journal of pediatric surgerySurgical management of caudal duplication syndrome: A rare entity with a centered approach on quality of life.
Surgical neurology internationalSpondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations.
Pediatric neurosurgery[Intramedullary lipoma: about a case].
The Pan African medical journalAcute presentations of intradural lipomas: case reports and a review of the literature.
BMC neurologyGiant bipolar intramedullary nondysraphic spinal cord lipoma: A case report.
Neuro-ChirurgieAngioarchitecture of Filum Terminale Arteriovenous Fistulas: Relationship with a Tethered Spinal Cord.
World neurosurgeryCurrarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.
Journal of neurosurgery. PediatricsDiffusion tensor imaging (DTI) and Tractography of the spinal cord in pediatric population with spinal lipomas: preliminary study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIncidence of symptomatic tethered spinal cord in pediatric patients presenting with neurofibromatosis types 1 and 2.
Journal of neurosurgery. PediatricsUnique combination of myxopapillary ependymoma and conus lipoma with subcutaneous extension in an 11-month-old child.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe pathology of lumbosacral lipomas: macroscopic and microscopic disparity have implications for embryogenesis and mode of clinical deterioration.
HistopathologySpinal Arteriovenous Vascular Malformations in Patients with Neural Tube Defects.
AJNR. American journal of neuroradiologyMagnetic resonance imaging in the prone position and the diagnosis of tethered spinal cord.
Journal of neurosurgery. PediatricsOccult spinal dysraphisms in newborns with skin markers: role of ultrasonography and magnetic resonance imaging.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryImpact of magnetic resonance imaging and urodynamic studies on the management of sacrococcygeal dimples.
Journal of neurosurgery. PediatricsNew classification of spinal lipomas based on embryonic stage.
Journal of neurosurgery. PediatricsUse of magnetic resonance imaging to detect occult spinal dysraphism in infants.
Journal of neurosurgery. PediatricsResults of the prophylactic surgery of lumbosacral lipomas 20 years of experience in the Paediatric Neurosurgery Department La Timone Enfants Hospital, Marseille, France.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThink of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.
Fetal diagnosis and therapyDuplicated filum terminale in non-split cord malformations: An underrecognized cause for treatment failure in tethered cord syndrome.
The journal of spinal cord medicineSpinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.
Journal of neurosurgery. SpineRadiographic predictors of deterioration in patients with lumbosacral lipomas.
Journal of neurosurgery. PediatricsSpinal lipoma of the filum terminale: review of 174 consecutive patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrenatal diagnosis of tethered spinal cord associated with sacrococcygeal teratoma.
Journal of clinical ultrasound : JCUThe natural history and management of patients with congenital deficits associated with lumbosacral lipomas.
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.
- Lumbar Degenerative Spondylolisthesis and Synovial Facet Cyst With Adjacent Intradural Filum Terminale Lipoma: A Case Report.
- Intradural contractions: spinal lipoma surgery with equivocal electromyography activity. Illustrative case.
- Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.
- Comparison of Intraspinal Abnormalities Prevalence in Congenital Scoliosis: Is Multiple Hemivertebra Associated with Higher Risk than Single Hemivertebra?
- Adult Type II diastematomyelia with tethered cord and associated spinal anomalies: A case report.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:645367(Orphanet)
- MONDO:0958350(MONDO)
- 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
