Esquizencefalia é um problema raro na formação do cérebro, presente desde o nascimento. Ela se caracteriza por fendas ou aberturas em forma de linha em um ou nos dois lados do cérebro. Essas fendas se estendem das cavidades internas do cérebro até a sua superfície mais externa, e podem causar vários sintomas neurológicos, como epilepsia, dificuldades para se movimentar e um atraso no desenvolvimento motor e mental.
Introdução
O que você precisa saber de cara
Esquizencefalia é um problema raro na formação do cérebro, presente desde o nascimento. Ela se caracteriza por fendas ou aberturas em forma de linha em um ou nos dois lados do cérebro. Essas fendas se estendem das cavidades internas do cérebro até a sua superfície mais externa, e podem causar vários sintomas neurológicos, como epilepsia, dificuldades para se movimentar e um atraso no desenvolvimento motor e mental.
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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that i
Nucleus
Holoprosencephaly 2
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE2 inheritance is autosomal dominant.
Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR)
NucleusCell projection, axon
Schizencephaly
Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the endoplasmic reticulum (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By simi
Endoplasmic reticulum membraneGolgi apparatus membraneSecretedCell membrane
Microphthalmia/Coloboma 5
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation
Secreted, extracellular space, extracellular matrix, basement membrane
Hereditary angiopathy with nephropathy aneurysms and muscle cramps
The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.
Variantes genéticas (ClinVar)
1,148 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 28 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
28 vias biológicas associadas aos genes desta condição.
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 — Esquizencefalia
Selecione um estado ou use sua localização para ver resultados.
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
Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.
ObjectiveTo elucidate factors associated with epilepsy in children with septo-optic dysplasia (SOD).MethodPatients (<21 years) diagnosed with SOD (2013-2023) were identified. Multivariate binomial regression predicted seizures in patients with SOD.ResultsWe identified 107 children (M:F = 46:61) with SOD. Among those, 103 had seizure data. Fifty-two (52/103; 50.5%) experienced seizures. Median age of seizure onset was 9 months (IQR: 4 months -2 years 5 months). Abnormal neurologic examinations were seen in 82.6% with seizures (P = .002). Global developmental delay was noted in 46 (43.0%) and associated with seizures (P = .004). Of 24 patients with autism spectrum disorder, 75% had seizures (P = .01). Ventriculomegaly and schizencephaly were associated with seizures (P = .015, P = .004). No significant associations were found between seizures and SOD diagnostic criteria combinations.InterpretationSeizures are highly prevalent in SOD patients. Diagnostic criteria for SOD do not predict seizures, underscoring the need for comprehensive screening in all SOD patients, irrespective of phenotype.
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Deleterious variants in COL4A2, encoding type IV collagen's alpha-2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We reported two severe cases: Case #1, an aborted fetus with cerebral calcifications, hemorrhages, periventricular leukomalacia, and cerebellar disruption; and Patient #2, a 2-year-old girl with neurodevelopmental impairment, cortical malformations (frontal schizencephaly, polymicrogyria), and reduced white matter volume. Exome sequencing identified a homozygous missense COL4A2 variant in case #1 and compound heterozygous loss-of-function variants (splicing and truncating) in case #2. All variants were rare and predicted to affect protein stability and function in silico. Our cases reinforce the association between biallelic COL4A2 variants and brain small vessel disease, expanding the recessive COL4A2-related phenotype to include cortical malformations.
Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.
Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.
Chiari II malformation is commonly associated with hydrocephalus requiring early cerebrospinal fluid (CSF) diversion and may coexist with complex supratentorial developmental abnormalities. As a result, patients with severe congenital structural brain anomalies and long-term ventriculoperitoneal (VP) shunting often experience neurodevelopmental impairment and are at increased risk of epilepsy. We report a 17-year-old girl with Chiari II malformation, repaired myelomeningocele, and ventriculoperitoneal shunting since birth (revision at five years of age), demonstrating marked ventricular improvement over a 16-year interval and a prolonged seizure-free interval despite severe congenital supratentorial malformations.
A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.
Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital disorder, characterised by non-encapsulated overgrowth of mature adipose tissue with a propensity to infiltrate the soft tissues of the face and surrounding anatomical spaces. Although benign, the involvement of multiple soft tissue planes, muscles, and bone make complete or near complete surgical excision both challenging and disfiguring. Whilst this condition may present in the early stages of life, the hypertrophic changes are typically progressive, with more significant manifestations being reported in older age groups. Advancements in radiological testing have allowed for more accurate identification of cases with precise management through planned and staged surgical interventions. To the best of our knowledge, this is the first case in the literature to report orbital involvement of CILF with associated intracranial manifestations, in this case, schizencephaly with grey matter heterotopia.
Publicações recentes
Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
Malformations of Cortical Development.
Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.
Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.
Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.
📚 EuropePMC291 artigos no totalmostrando 179
Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.
NeurologyPredictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.
Journal of child neurologySixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.
CureusBiallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Clinical geneticsRethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios.
BMC pregnancy and childbirthDandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.
BMC pediatricsA rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.
Orbit (Amsterdam, Netherlands)ECT for Catatonia in Schizencephaly.
The journal of ECTComplex neurological interplay: adult-onset migraine-triggered seizures in schizencephaly-a case report.
Frontiers in human neuroscienceHemispherotomy for Drug-Resistant Epilepsy in a Low-Resource Setting: Surgical Outcomes and Quality of Life in 23 Children Treated in a Hybrid Program in Panama.
Pediatric neurosurgeryEarly-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.
CureusBroad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.
Fetal and pediatric pathologySchizencephaly in neonates and clinical importance. Cases report.
Boletin medico del Hospital Infantil de MexicoEpileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.
Pediatric neurologyFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.
Developmental medicine and child neurologyA unilateral open-lip schizencephaly in a neonate: A rare case report.
Radiology case reportsOpen Lip Schizencephaly Misdiagnosed as Paralytic Poliomyelitis in an 85-Year-Old: A Case Report.
Clinical case reportsSubependymal Gray Matter Heterotopia With Seizure in a 6-Month-Old Child.
Clinical case reportsUnilateral schizencephaly open lip with septo optic dysplasia in adult woman with glaucoma: A rare case.
Radiology case reportsPhenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.
Epilepsia openFetal malformations of cortical development: review and clinical guidance.
Brain : a journal of neurologyBurr Hole Hemispherotomy: Case Series.
Operative neurosurgery (Hagerstown, Md.)Grey matter hypertropia in a child with recurrent seizure: A case report.
Radiology case reportsHydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceSepto-optic dysplasia with associated closed lip schizencephaly: "SOD-plus syndrome".
Acta neurologica BelgicaUndiagnosed Schizencephaly Presenting as Breakthrough Seizures.
Clinical practice and cases in emergency medicineEROTOMANIC DELUSIONS AND TACTILE HALLUCINATIONS IN A LATE ADOLESCENT GIRL WITH SCHIZENCEPHALY.
Psychiatria DanubinaExploring the diverse imaging spectrum of Septo-optic dysplasia: A case series.
Radiology case reportsTwo-stage surgical intervention for a rare case of intersected nasoethmoidal encephalocele and open-lip schizencephaly in an infant: illustrative case.
Journal of neurosurgery. Case lessonsIctal sign of the cross: A case report and a short literature review.
Epileptic disorders : international epilepsy journal with videotapeFetal MRI Findings, Etiology, and Outcome in Prenatally Diagnosed Schizencephaly.
AJNR. American journal of neuroradiology[Malformations of cortical development: what's new?].
MedicinaOpen lip schizencephaly: An unusual cause of hemiparesis: A case report.
Radiology case reportsFrontal lobe closed-lip schizencephaly as an atypical cause of adult-onset seizures.
Radiology case reportsSepto-optic dysplasia plus syndrome in a 2-year-old child: A case report.
Radiology case reportsMultiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
American journal of medical genetics. Part C, Seminars in medical geneticsCol4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.
International journal of medical sciencesPrimary acalvaria with open-lip schizencephaly in indigenous South Papuan surviving newborn: a rare case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management.
Radiology case reportsSchizencephaly Associated With Bipolar Affective Disorder.
CureusPAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.
Georgian medical newsExpanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.
Pediatric neurosurgery[Congenital malformations of the brain misinterpreted as sequelae of poliomyelitis].
Zeitschrift fur Gerontologie und GeriatriePotential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.
Asian journal of endoscopic surgeryIncidental Open-Lip Type Schizencephaly in a Patient with Severe Traumatic Brain Injury.
Neurology IndiaNewly diagnosed Parkinson's disease in a middle-aged cerebral palsy patient with schizencephaly.
Acta neurologica BelgicaSchizencephaly: A rare cause of late-onset epilepsy in an adult.
Radiology case reportsSpectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
Pediatric neurologyIntracranial arachnoid cysts.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySepto-optic dysplasia PLUS syndrome in a 23 years old patient: A case report.
Radiology case reportsA case of closedlip schizencephaly with absent septum pellucidum in an adult presenting with seizure disorder.
Clinical case reportsVascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case.
Journal of neurosurgery. Case lessonsSchizencephaly diagnosed after an episode of seizure during labor: A case report.
Clinical case reportsRole of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.
Fetal diagnosis and therapy[Clinical and functional disturbances in epilepsy patients with schizencephaly].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaInsights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Molecular neurobiologyA De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
GenesEncephalocraniocutaneous Lipomatosis: A Case Report and Literature Review.
CureusStereo-EEG for Epileptogenic Focus Localization in Schizencephaly: A Single-center Experience in Four Patients.
World neurosurgeryAutosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
Molecular syndromologySchizencephaly in Hereditary Hemorrhagic Telangiectasia.
AJNR. American journal of neuroradiologyDelineating septo-optic dysplasia.
Birth defects researchImaging of Congenital Malformations of the Brain.
Clinics in perinatologySchizencephaly as an Unusual Cause of Adult-Onset Epilepsy: A Case Report.
Cureus[Septo optic dysplasia plus: about a case].
The Pan African medical journalAltered excitatory and inhibitory neocortical circuitry leads to increased convulsive severity after pentylenetetrazol injection in an animal model of schizencephaly, but not of microgyria.
Epilepsia openHypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development.
Birth defects researchNeurological outcome in WDR62 primary microcephaly.
Developmental medicine and child neurologySudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices.
The American journal of forensic medicine and pathologySchizencephaly and the Neurodevelopmental Model of Psychosis.
Neurology IndiaCleft size and type are associated with development of epilepsy and poor seizure control in patients with schizencephaly.
SeizureBilateral open lip schizencephaly.
Annals of medicine and surgery (2012)Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
JIMD reportsNeurodevelopmental Findings and Epilepsy in Malformations of Cortical Development.
Turkish archives of pediatricsTraumatic epidural hematoma in a patient with severe schizencephaly.
Clinical case reportsMagnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.
World neurosurgeryTeenage Neurologic Manifestation of a Complex Brain Malformation Consisting of Gray Matter Heterotopia, Schizencephaly and Absent Septum Pellucidum.
Journal of the Belgian Society of RadiologyMotor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.
BioMed research internationalMalformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients.
Children (Basel, Switzerland)Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review.
Frontiers in pediatricsProgressive cerebral atrophies in three children with COL4A1 mutations.
Brain & developmentSuper-refractory status epilepticus in a pregnant woman with schizencephaly.
Epileptic disorders : international epilepsy journal with videotapeA Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.
Frontiers in geneticsPorencephaly causing limb size asymmetry.
Acta neurologica BelgicaNovel COL4A2 mutation causing familial malformations of cortical development.
European review for medical and pharmacological sciencesBrain and Placental Pathology in Fetal COL4A1 Related Disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyIntermittent photic stimulation triggering a temporal lobe seizure in a patient with schizencephaly and pachygyria.
Epilepsy & behavior reportsExcitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome Help Explain Epileptogenesis in Malformations.
Pediatric neurologyA Rare Case of an Infant with Left Hemiparesis: A Case Report of Bilateral Open-lip Schizencephaly.
Malaysian family physician : the official journal of the Academy of Family Physicians of MalaysiaNovel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
Human genome variationThe spectrum of brain malformations and disruptions in twins.
American journal of medical genetics. Part ANeuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.
Brain & developmentAbsent Cavum Septi Pellucidi.
American journal of obstetrics and gynecologyFetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.
Pediatric radiologyDissociative Language Representation in a Patient with Schizencephaly.
European neurologyPseudo-Roberts Syndrome: An Entity or Not?
Fetal and pediatric pathologyReview of the MRI brain findings of septo-optic dysplasia.
Clinical radiologyTrio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.
Frontiers in pediatricsUnilateral right closed-lip schizencephaly.
BMJ case reportsAn Unusual, Intermediate-Sized Lesion Affecting Motor Organization in a Patient With Schizencephaly: A Case Report.
Frontiers in human neurosciencePrenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.
Journal of medical imaging and radiation oncologyPrenatal clinical manifestations in individuals with COL4A1/2 variants.
Journal of medical geneticsEpilepsy in paediatric patients with schizencephaly.
Annals of agricultural and environmental medicine : AAEMPrevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNeuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia.
eNeurologicalSciAdult-Onset Seizure Disorder Secondary to Schizencephaly.
Asian journal of neurosurgeryAgenesis of the septum pellucidum: Prenatal diagnosis and outcome.
Prenatal diagnosisUnilateral Open-lip Schizencephaly with Tonsillar Herniation in a Preterm Infant.
Journal of pediatric neurosciencesA journey through formation and malformations of the neo-cortex.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInborn errors of metabolism leading to neuronal migration defects.
Journal of inherited metabolic diseaseRecessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
Frontiers in cellular neurosciencePersistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.
Acta endocrinologica (Bucharest, Romania : 2005)Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.
Fetal and pediatric pathologyMalignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.
World neurosurgeryCortical malformations and COL4A1 mutation: Three new cases.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietySepto-optic Dysplasia Plus Syndrome.
CureusFrontoethmoidal encephalocele presenting in concert with schizencephaly.
Surgical neurology internationalSchizencephaly: A Review of 734 Patients.
Pediatric neurologyFetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyIncongruent hemiatrophy and hemiparkinsonism in a patient with schizencephaly.
Clinical neurology and neurosurgeryIncreased Sylvian fissure angle as early sonographic sign of malformation of cortical development.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyFurther refinement of COL4A1 and COL4A2 related cortical malformations.
European journal of medical geneticsA Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits.
Journal of neurosciences in rural practiceSchizencephaly revisited.
NeuroradiologyA rare case of super-refractory epileptic status in pregnant woman: Schizencephaly.
Anaesthesia, critical care & pain medicineLatent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature.
Clinical EEG and neuroscience[Disorders of migration and gyration].
Der RadiologeNovel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
Human genome variationSepto-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.
Clinical neuroradiologySchizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.
Yonago acta medicaSchizencephaly in children: A single medical center retrospective study.
Pediatrics and neonatologyA rare case of schizencephaly in an adult with late presentation.
Journal of family medicine and primary careNeuronal Migration Disorders.
Radiologic technologyCOL4A1 and fetal vascular origins of schizencephaly.
NeurologyStereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study.
Annals of neurologyApplication of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.
Korean journal of pediatricsHYDROCEPHALY, SCHIZENCEPHALY, SPONDYLOCOSTAL DYSPLASIA, AND HYPOPARATHYROIDISM IN AN INFANT OF A DIABETIC MOTHER.
Acta endocrinologica (Bucharest, Romania : 2005)Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.
Radiology case reportsFunctional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia.
Journal of the neurological sciencesGrowth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.
Pediatric neurologyClinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.
Journal of child neurologyImaging of Laser Therapy in Epilepsy.
Journal of neuroimaging : official journal of the American Society of NeuroimagingSevere Neurologic Disorders in 2 Fetuses with Zika Virus Infection, Colombia.
Emerging infectious diseasesRecurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.
NeuropediatricsTeaching NeuroImages: Homotopic motor distribution on fMRI in closed-lip schizencephaly.
NeurologyA severe pulmonary complication in a patient with COL4A1-related disorder: A case report.
European journal of medical geneticsFetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience.
Iranian journal of pediatricsNew-Onset Seizure Associated With Schizencephaly.
The Journal of emergency medicineTadpole-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 NeurosurgeryCortical Clefts and Cortical Bumps: A Continuous Spectrum.
Journal of clinical and diagnostic research : JCDRBilateral giant open-lip schizencephaly: A rare case report.
Journal of pediatric neurosciencesTelencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.
Pediatric neurologySuccessful hemispherotomy for a patient with intractable epilepsy secondary to bilateral congenital brain malformation with lateralized pyramidal tract of diffusion tensor image tractography.
Epilepsy & behavior case reportsThe pathology of incipient polymicrogyria.
Brain & developmentContactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.
Acta neurologica Belgica"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum.
Neurology IndiaSchizencephaly: A case report and review of literature.
The Nigerian postgraduate medical journalScalp Arteriovenous Malformation with Concomitant, Flow-Dependent Malformation and Aneurysm.
World neurosurgerySuccessful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyRight Homonymous Hemianopia: A Clinical Case Report of Schizencephaly.
Case reports in ophthalmologyNovel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Birth defects research. Part A, Clinical and molecular teratologyAstrocyte membrane properties are altered in a rat model of developmental cortical malformation but single-cell astrocytic glutamate uptake is robust.
Neurobiology of diseaseEpileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients.
SeizurePrenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly.
Taiwanese journal of obstetrics & gynecologySurgical management of medically refractory epilepsy in patients with polymicrogyria.
EpilepsiaIntracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.
Journal of medical ultrasonics (2001)ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.
Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in MedicineNeuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.
Pediatric neurologyMalformations of cortical development: 3T magnetic resonance imaging features.
World journal of radiology[Scintigraphic imaging in the diagnosis of failed intrathecal baclofen therapy: a case report of a 7-year-old boy with ventriculoperitoneal shunt].
No to hattatsu = Brain and developmentBotulinum toxin A injection of UES in schizencephaly with dysphagia: Case report.
International journal of pediatric otorhinolaryngologyCentral nervous system injury in utero: selected entities.
Pediatric radiologySchizencephaly associated psychosis.
Asian journal of psychiatryModels of cortical malformation--Chemical and physical.
Journal of neuroscience methodsSchizencephaly: Dramatic Images in a Normally Functioning Adult.
PM & R : the journal of injury, function, and rehabilitationClinical Profile of Children with Malformations of Cortical Development.
Indian journal of pediatricsSchizencephaly-diagnostics and clinical dilemmas.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical and morphological aspects of gray matter heterotopia type developmental malformations.
Polish journal of radiologyAssociações
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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.
- Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.
- Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
- Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.
- Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.
- A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.
- Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
- Malformations of Cortical Development.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:799(Orphanet)
- OMIM OMIM:269160(OMIM)
- MONDO:0010011(MONDO)
- GARD:166(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1457267(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
