Raras
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Espinha bífida cística
ORPHA:268744CID-11 · LA02.0DOENÇA RARA

Uma malformação congênita em que a medula espinhal e as membranas que a protegem saem por uma falha na coluna vertebral. A protuberância fica visível acima da pele.

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Introdução

O que você precisa saber de cara

📋

Uma malformação congênita em que a medula espinhal e as membranas que a protegem saem por uma falha na coluna vertebral. A protuberância fica visível acima da pele.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
7 sintomas
🫃
Digestivo
2 sintomas
🦴
Ossos e articulações
2 sintomas
💪
Músculos
1 sintomas
👁️
Olhos
1 sintomas
📏
Crescimento
1 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

Hipotonia
Heterotopia de substância cinzenta
Fraqueza muscular de membro
Hipotonia generalizada
Nistagmo
Malformação de Chiari
39sintomas
Sem dados (39)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.

HipotoniaHypotonia
Heterotopia de substância cinzentaGray matter heterotopia
Fraqueza muscular de membroLimb muscle weakness
Hipotonia generalizadaGeneralized hypotonia
NistagmoNystagmus

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos15publicações
Pico20244 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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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

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Rare Case of Anterior Sacral Meningocele in a 30-Year-Old Male: Surgical Excision Using the Posterior Sagittal Approach.

Clinical case reports2026 Feb

Anterior sacral meningocele (ASM) is an uncommon congenital spinal abnormality in which the meningeal sac herniates through an abnormality in the anterior sacrum into the presacral space. It is more observed in females and usually asymptomatic; large ASMs may cause pressure effects on nearby pelvic structures. A 30-year-old male presented with prolonged constipation and recurrent episodes of urinary retention, which developed to complete urinary obstruction. Ultrasound demonstrated a large presacral cystic mass, and MRI confirmed the diagnosis of an ASM. Pelvic x-ray revealed the classic Scimitar Sign. Neurological examination showed no abnormalities. The patient was subjected to surgical excision through the posterior sagittal technique. Intraoperative steps consisted of laminectomy, durotomy, sac decompression, and fascial graft repairing. After the procedure, the patient experienced a smooth recovery with notable improvement in bowel and urinary symptoms. ASM is an uncommon etiology of pelvic mass and neurogenic bladder symptoms occurring in adults. This case underscores the diagnostic importance of MRI and pelvic X-ray, and also supports the posterior sagittal approach as an effective, low-complication surgical approach. ASM should be taken as a differential diagnosis for adult patients having symptoms of chronic constipation and urinary retention. Prompt imaging and surgical treatment can notably improve outcomes.

#2

Terminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025 Dec 18

Terminal myelocystocele (TMC) is rare form of closed neural tube defect (NTD), accounting for approximately 4-8% of occult spinal dysraphisms. It is defined by cystic dilatation of the distal central canal herniating through a posterior spina bifida, typically covered by intact skin. Frequently associated with multisystem malformations, its pathogenesis remains debated, with theories involving disordered secondary neurulation, abnormal cerebrospinal fluid (CSF) dynamics, and failed disjunction between ectodermal layers. We present the case of a male neonate with a lumbosacral mass identified at birth. Magnetic resonance imaging (MRI) revealed a 50 mm TMC associated with a separate meningocele, syringomyelia, scoliosis, butterfly vertebra, and Chiari II malformation. Surgical correction at 2 weeks of age included detethering of the spinal cord, partial cyst wall resection, and dural patch closure under intraoperative neurophysiological monitoring. The postoperative course was uneventful, and at 3-month follow-up the patient remained neurologically stable with normal developmental milestones. This case underscores the clinical and radiological hallmarks of TMC, as well as the importance of early surgical intervention to prevent progressive neurological deterioration. MRI remains the diagnostic gold standard and guides surgical planning. We introduce a novel hypothesis drawing parallels with Chiari malformations, suggesting that fibrous bands and altered CSF hydrodynamics may contribute to cyst enlargement and clinical decline. A multidisciplinary approach and improved understanding of these mechanisms are crucial to optimize outcomes and refine management strategies.

#3

Lumbosacral posterior meningocele in adult patient: a case report.

Journal of surgical case reports2025 Jan

Spinal dysraphism is the incomplete fusion of the neural arch, which can be seen as an occult or open neural tube defect. Meningoceles are a form of open neural tube defect characterized by cystic dilatation of the meninges containing cerebrospinal fluid without the involvement of neural tissue. Neurosurgical intervention is necessary in the newborn period since survival in advancing ages is often impossible. Therefore, meningoceles are rarely reported in adulthood. Here, we discussed a case of a 23-year-old female who presented with a meningocele in the lumbosacral area since birth, which had not been operated on. Surgical management and intraoperative findings are also discussed.

#4

Fetal Urinary Ascites From Bladder Rupture: A Rare Complication of Posterior Urethral Valve.

Cureus2024 Aug

Prenatal ultrasonography (USG) plays a crucial role in diagnosing fetal urinary tract anomalies and distinguishing between lower urinary tract obstructive (LUTO) and neurological causes (seen with spinal dysraphism, myelomeningocele, meningocele, and sacral agenesis) of urinary bladder distension. Fetal urinary ascites, a rare but severe complication, can result from bladder rupture associated with obstructive uropathy such as posterior urethral valves (PUV). This case study presents a rare instance of fetal urinary ascites due to PUV detected during prenatal ultrasonography at 20 weeks of gestation (WOG). By highlighting this uncommon but clinically significant condition, we aim to enhance the understanding and management of similar cases in clinical practice.

#5

lVentral tethering-is the prognosis worse than in dorsal tethering in the dysraphic spine?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024 Aug

To compare cases of dysraphism with ventral tethering of cord with those with dorsal tethering and to find out any differences in the outcome of surgery in them. We collected the data of 188 consecutively operated tethered cord patients at our institute in the past 7 years and divided them into ventral tethering and dorsal tethering groups. Those that we felt had both dorsal and ventral tethering were excluded. Their preoperative clinical, radiological, and baseline neurophysiological parameters as well as postoperative clinical and radiological parameters were analyzed in a retrospective study. Among the 188 tethered cord patients, 52 (28%) had ventral tethering and 136 (72%) had posterior tethering. Preoperative neurodeficit and cord signal changes as well as absent baseline MEP (of any one muscle) were significantly more associated with ventral tethered cord than the dorsal tethered cord. The neurological deterioration after surgery occurred significantly in the ventral tethered cord group than in the dorsal tethered cord group. Also, the postoperative MRI had more incomplete detethering cases in the ventral group than in the dorsal tethered cord group. Ventral tethered cord is more likely to present with preoperatively neurological deficits. It should be carefully identified in the preoperative MRI, so that the intraoperative difficulties in complete detethering and postoperative deterioration can be anticipated.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 15

2026

Rare Case of Anterior Sacral Meningocele in a 30-Year-Old Male: Surgical Excision Using the Posterior Sagittal Approach.

Clinical case reports
2025

Terminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.

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

Lumbosacral posterior meningocele in adult patient: a case report.

Journal of surgical case reports
2024

Fetal Urinary Ascites From Bladder Rupture: A Rare Complication of Posterior Urethral Valve.

Cureus
2024

lVentral tethering-is the prognosis worse than in dorsal tethering in the dysraphic spine?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Surgical management of anterior sacral meningoceles: an illustrated case series and review of the literature.

British journal of neurosurgery
2022

A clinical image: posterior meningocele.

The Pan African medical journal
2022

Progressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series.

Plastic and reconstructive surgery
2022

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

Pediatric neurosurgery
2021

Spinal Dysraphisms: A New Anatomical-Clinicoradiological Classification.

The Indian journal of radiology &amp; imaging
2020

Repair of giant lumbosacral pseudomeningocele with fast-resorbing polymer mesh in a pediatric patient operated for posterior dysraphism.

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

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.

Journal of neurosurgery. Pediatrics
2020

Prenatal diagnosis of closed spina bifida: multicenter case series and review of the literature.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2017

Anterior sacral meningocele infected with Fusobacterium in a patient with recently diagnosed colorectal carcinoma - a case report.

BMC neurology

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Rare Case of Anterior Sacral Meningocele in a 30-Year-Old Male: Surgical Excision Using the Posterior Sagittal Approach.
    Clinical case reports· 2026· PMID 41674881mais citado
  2. Terminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2025· PMID 41413246mais citado
  3. Lumbosacral posterior meningocele in adult patient: a case report.
    Journal of surgical case reports· 2025· PMID 39867984mais citado
  4. Fetal Urinary Ascites From Bladder Rupture: A Rare Complication of Posterior Urethral Valve.
    Cureus· 2024· PMID 39246962mais citado
  5. lVentral tethering-is the prognosis worse than in dorsal tethering in the dysraphic spine?
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2024· PMID 38743268mais citado
  6. Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.
    Childs Nerv Syst· 2024· PMID 38441629recente
  7. Surgical management of anterior sacral meningoceles: an illustrated case series and review of the literature.
    Br J Neurosurg· 2024· PMID 36594268recente
  8. A clinical image: posterior meningocele.
    Pan Afr Med J· 2022· PMID 36405669recente
  9. Retained Medullary Cord Associated with Terminal Myelocystocele and Intramedullary Arachnoid Cyst.
    Pediatr Neurosurg· 2022· PMID 35259748recente
  10. Repair of giant lumbosacral pseudomeningocele with fast-resorbing polymer mesh in a pediatric patient operated for posterior dysraphism.
    Childs Nerv Syst· 2020· PMID 32314024recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:268744(Orphanet)
  2. MONDO:0017069(MONDO)
  3. GARD:20958(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q54972151(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

Compêndio · Raras BR

Espinha bífida cística

ORPHA:268744 · MONDO:0017069
Prevalência
Unknown
Herança
Multigenic/multifactorial, Not applicable
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
UMLS
C0025312
Wikidata
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