Defeito congênito no fechamento do tubo neural, resultando na protrusão do cérebro através de uma abertura no crânio. Quando a protrusão inclui as meninges, utiliza-se o termo encefalomeningocele.
Introdução
O que você precisa saber de cara
Defeito congênito no fechamento do tubo neural, resultando na protrusão do cérebro através de uma abertura no crânio. Quando a protrusão inclui as meninges, utiliza-se o termo encefalomeningocele.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizin
CytoplasmNucleusSynapse
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Variantes genéticas (ClinVar)
25 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
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 — Cefalocelo
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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
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine. We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord. In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.
Atretic Cephalocele.
Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.
We present two cases highlighting novel prenatal ultrasound findings in atretic cephalocele (AC) using high-resolution ultrasound and microvascular flow imaging. This report includes the first prenatal ultrasound demonstration of key diagnostic AC features: superior sagittal sinus fenestration, observed in the parietal case, and a fibrous dural stalk, identified in both parietal and occipital cases. Both fetuses presented with a small midline scalp lesion, internal echoes, and an underlying bony defect without brain tissue herniation. Additionally, an increased brainstem-tentorium angle was measured in both, suggesting its potential utility as a supportive diagnostic marker. We propose a refined two-tiered diagnostic framework to improve the accuracy of prenatal AC diagnosis and distinguish AC from true encephaloceles, facilitating appropriate parental counseling.
Bilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.
Meckel's cave cephalocele, also known as petrous apex cephalocele (PAC), is a rare cystic lesion caused by herniation of the cerebrospinal fluid into the Meckel's cave. Bilateral PACs are exceptionally rare, with only 21 reported cases. PACs may present with headache, diplopia, tinnitus, or cranial nerve palsy. A 74-year-old male presented with acute onset headache, vision changes, and gait instability. His medical history included hypertension and melanoma. Examination revealed a left cranial nerve VI palsy. Initial imaging with head CT and CTA showed no acute intracranial abnormalities but revealed moderate chronic sinusitis. Magnetic resonance imaging demonstrated large bilateral Meckel's cave cephaloceles, more prominent on the left, with mass effect on the inferior margins of the cavernous sinus. Steroid treatment was initiated for suspected influenza-associated cranial neuropathy. Follow-up did not reveal an immediate improvement. However, after several weeks of steroid treatment, his symptoms improved significantly. The patient deferred surgical intervention. This case highlights a rare presentation of bilateral PACs with cranial nerve VI palsy. Although surgical intervention may be definitive, conservative treatment can provide relief of symptoms in select cases. More research is needed to guide optimal management strategies.
In utero progression of cephaloceles: prenatal to postnatal analysis.
The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period. Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified. All patients underwent prenatal and postnatal MRI. Demographic and imaging covariates were obtained from the electronic medical record. Volumetric analyses were performed to determine the percentage of neural tissue within the cephalocele. Progressive herniation was defined as an increase in cephalocele absolute neural tissue volume ≥ 5% or new herniation of an additional intracranial structure into the cephalocele. A total of 25 patients met the inclusion criteria. Of these patients, 6 (24%) exhibited progressive cephalocele herniation from the prenatal to postnatal MRI. The median sac volume was 2.2 mL (mean 6.2 mL, range 0.3-40.5 mL). The median change in brain volume in the patients with cephalocele progression was a decrease of 1.5% (mean -7.3%, range -36.4% to 3.1%). Cephalocele sac volume at the time of fetal imaging was predictive of progressive herniation, which persisted on multivariate analysis when controlling for gestational age, sex, and percentage of herniated neural tissue. While 44% of the patients had ventriculomegaly, 56% ultimately required permanent CSF diversion. Progressive neural herniation from the fetal to postnatal period is not commonly seen in fetal cephaloceles. Sac volume is associated with an increased risk of progressive herniation into the cephalocele.
Publicações recentes
Surgical management of petrous apex trigeminal nerve herniation causing trigeminal neuralgia with long-term outcome: illustrative case.
Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.
Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.
📚 EuropePMC133 artigos no totalmostrando 100
Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Surgical neurology internationalSuboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.
CureusPrenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineBilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.
Case reports in neurologyPoland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American journal of medical genetics. Part AJoubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report.
Radiology case reportsOccipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.
Prenatal diagnosisUndiagnosed complex neurological malformation in a geriatric patient presenting with seizures.
Radiology case reportsPersistent Craniopharyngeal Canal (Type 3C) with Vertebrobasilar Dolichoectasia and Bilateral Sclerochoroidal Calcification.
Asian journal of neurosurgeryAtretic Cephalocele as the Cause of Swelling on the Head of an Infant.
Deutsches Arzteblatt internationalPosterior vault encephaloceles: from antenatal management to post-surgical follow-up-a cooperative study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUnusual Case of Multi-etiology Conductive Hearing Loss from Cephalocele and Prolapsed Facial Nerve.
The LaryngoscopeGrey matter hypertropia in a child with recurrent seizure: A case report.
Radiology case reportsIn utero progression of cephaloceles: prenatal to postnatal analysis.
Journal of neurosurgery. PediatricsSpontaneous Lateral Sphenoid Cephalocele in Association with Idiopathic Intracranial Hypertension: A Case Report.
Journal of the Korean Society of RadiologyUnusual Case of Fetal Meningocele Mimicking Dacryocystocele.
Global pediatric healthImaging-Based Prediction Parameters of Perinatal Morbidity and Mortality for Fetal Occipital Cephaloceles.
Prenatal diagnosisSpontaneous Lateral Sphenoid Cephalocele.
Ophthalmic plastic and reconstructive surgeryMorning Glory Disc Anomaly: Expanding the MR Phenotype.
AJNR. American journal of neuroradiologyFetal Head and Neck Imaging.
Magnetic resonance imaging clinics of North AmericaSurviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.
Journal of neurosurgery. Case lessonsIncidental Petrous Apex Cephalocele Presenting With Transient Global Amnesia: A Case Report and Rapid Literature Review.
CureusAtretic cephalocele and differential considerations: A small case series.
The neuroradiology journalAcalvaria: the first case report from Nepal.
Annals of medicine and surgery (2012)Atretic cephalocele associated with sinus pericranii: a single-center analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAtretic cephaloceles with different imaging phenotypes - Case series with review of literature.
Journal of neurosciences in rural practiceAnatomy and Pathology of the Skull Base: Malignant and Nonmalignant Lesions.
Oral and maxillofacial surgery clinics of North AmericaFrontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy.
Child neurology openNID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.
European journal of medical geneticsAtretic cephalocele and encephalocele: A single-institution clinicopathological study.
Journal of cutaneous pathologyFirst Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.
Brain sciencesPersistent falcine sinus in the newborn: 3 case reports of associated anomalies.
Radiology case reportsINDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPrenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage.
Prenatal diagnosisImaging of Congenital Malformations of the Brain.
Clinics in perinatologyJoubert-Plus syndrome with an atretic cephalocele: a case report.
Radiology case reportsPrenatal Diagnosis of Otocephaly: A Rare Facial Anomaly.
Journal of obstetrics and gynaecology of IndiaNatural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.
Journal of neurosurgery. PediatricsAtretic Parietal Cephalocele With First Trimester Chiari Malformation and Sinus Pericranii Companion Case.
CureusUnilateral expanding petrous apex cephalocele and contralateral vitreous hemorrhage in a young patient with intracranial hypertension.
American journal of ophthalmology case reportsImaging of pediatric nasal masses: A review.
Journal of neuroimaging : official journal of the American Society of NeuroimagingBilateral Petrous Apex Cephalocele Associated with a Wide Sella.
The Journal of craniofacial surgeryChiari III Malformation on Prenatal and Postnatal Imaging Complicated by Syndrome of Inappropriate Secretion of Anti-diuretic Hormone (SIADH) and Serratia marcescens Meningitis.
CureusEndoscopic endonasal and transorbital approaches to petrous apex lesions.
Journal of neurosurgeryThe spectrum of venous anomalies associated with atretic parietal cephaloceles: A literature review.
Surgical neurology internationalCavum trigeminale cephalocele associated with intracranial hypertension in an 18-month-old child: illustrative case.
Journal of neurosurgery. Case lessonsRare Neuroimaging Findings in an Adult Neurofibromatosis Type 1 Patient.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesRare case of bilateral petrous apex cephalocele.
BMJ case reportsContribution of computed tomography and magnetic resonance imaging in the analysis of fetal craniofacial malformations.
Pediatric radiologyA rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPetrous Apex Cephaloceles: Radiology Features and Surgical Management of a Rare Entity.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyAtretic cephalocele: Report of an infrequent dermatopathologic finding.
Journal of cutaneous pathologyDural Venous Sinus Stenosis: Why Distinguishing Intrinsic-versus-Extrinsic Stenosis Matters.
AJNR. American journal of neuroradiologyNeurodevelopmental outcome of children born with an isolated atretic cephalocele.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRoutine first-trimester ultrasound screening using a standardized anatomical protocol.
American journal of obstetrics and gynecologyFirst-trimester fetal neurosonography: technique and diagnostic potential.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySystematic review of anterior congenital cephaloceles: open vs endoscopic repair.
International forum of allergy & rhinologyPrenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.
Balkan journal of medical genetics : BJMGNasal meningoencephalocele: A retrospective study of clinicopathological features and diagnosis of 16 patients.
Annals of diagnostic pathologyAtretic cephalocele with hypertrichosis.
CutisBilateral petrous apex cephaloceles: Is surgical intervention indicated?
International journal of surgery case reportsPrevalence of Sigmoid Sinus Dehiscence and Diverticulum among Adults with Skull Base Cephaloceles.
AJNR. American journal of neuroradiologyGiant Cephalocele Case Mimicking Cystic Neoplasia in Skull Base.
The Journal of craniofacial surgery[Cutaneous signs of occult cranial and spinal dysraphism].
Annales de dermatologie et de venereologieProatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Prenatal diagnosisPrenatal evaluation of the Sakoda complex.
Pediatric radiologyNeural Crest Cell Failure as Embryogenesis for Fusiform Aneurysm of the Anterior Communicating Artery: Case Report and Review of the Literature.
World neurosurgeryRole of High-Frequency Ultrasound in the Diagnosis of Atretic Cephalocele.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
American journal of medical genetics. Part ABipartite craniopharyngeal canal with a lipoma and cephalocele: a previously unreported entity.
Acta neurochirurgicaPrenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.
Fetal and pediatric pathologyAssociation of Hydrocephalus with Neural Tube Defect: Our Experience with the Surgical Treatment in One or in Two Operative Stages (on Separate Days).
Pediatric neurosurgeryNeuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.
Clinical imagingIntradiploic cephalocele: a rare entity at a rare site.
BMJ case reportsRecurrence of atretic parietal cephalocele in adult: a case report and review of literature.
Folia morphologicaMasses of the Nose, Nasal Cavity, and Nasopharynx in Children.
Radiographics : a review publication of the Radiological Society of North America, IncHair-Collar-and-Tuft-Sign Associated with an Atretic Cephalocele and a Persistent Primitive Falcine Sinus.
The Journal of pediatricsFetal cephaloceles: prenatal diagnosis and course of pregnancy in 65 consecutive cases.
Archives of gynecology and obstetricsNon-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySurgically Cured, Relapsed Pneumococcal Meningitis Due to Bone Defects, Non-invasively Identified by Three-dimensional Multi-detector Computed Tomography.
Internal medicine (Tokyo, Japan)The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.
Journal of the American Academy of DermatologyTadpole-shaped lateralized parietal atretic cephalocele associated with an ipsilateral lacrimal gland fistula and schizencephalic clefts.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAtretic cephaloceles: a comprehensive analysis of historical cohort.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGiant occipital meningohydroencephalocele in an adult: Another historical case in neural tube defects.
Neuro-ChirurgieVenous anomaly analogous to vertical embryonic positioning of the straight sinus associated with atretic cephalocele at the suboccipital region.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.
Disease models & mechanismsNasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?
Birth defects research. Part A, Clinical and molecular teratologyOccipital cephalocele with neural crest remnants? Radiological and pathological findings in a newborn boy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPetrous apex cephalocele presenting with cerebrospinal fluid rhinorrhea in an adult.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaChiari 3 Malformation and Cephalocele: Perinatal Evaluation.
Ultrasound quarterlyThe cephaloceles: A clinical, epidemiological and therapeutic study of 50 cases.
Neuro-Chirurgie[Cephalocele of the petrous apex: a rare etiology of trigeminal neuralgia].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinTwo cases of atretic cephalocele, and histological evaluation of skin appendages in the surrounding skin.
Clinical and experimental dermatologyParietal atretic cephalocele: Associated cerebral anomalies identified by CT and MR imaging.
The neuroradiology journalThe association between petrous apex cephalocele and empty sella.
Surgical and radiologic anatomy : SRAExcavating Meckel's cave: Cavum-trigeminale-cephaloceles (CTCs).
Journal of neuroradiology = Journal de neuroradiologieAbnormal sonographic appearance of posterior brain at 11-14 weeks and fetal outcome.
Prenatal diagnosisFrontoethmoidal cephalocele: our experience of eleven cases managed surgically.
Pediatric neurosurgeryA scalp lesion with intracranial extension. Atretic cephalocele.
JAMA otolaryngology-- head & neck surgeryAssociações
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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.
- Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
- Atretic Cephalocele.
- Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine· 2026· PMID 40920064mais citado
- Bilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.
- In utero progression of cephaloceles: prenatal to postnatal analysis.
- Surgical management of petrous apex trigeminal nerve herniation causing trigeminal neuralgia with long-term outcome: illustrative case.
- Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:268817(Orphanet)
- MONDO:0017078(MONDO)
- GARD:20967(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786791(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
