Hidrocefalia presente ao nascimento.
Introdução
O que você precisa saber de cara
Hidrocefalia presente ao nascimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 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
5 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha sub
CytoplasmCell junction
Hydrocephalus, congenital, 1
A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive.
E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism (PubMed:23125361). Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by r
Cytoplasm, P-body
Hydrocephalus, congenital, 4
An autosomal dominant form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the absence of obstruction to cerebrospinal fluid flow between the ventricles (communicating hydrocephalus). Affected individuals have neurodevelopmental delay and epilepsy.
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity
Cell membraneCell projection, growth coneCell projection, axonCell projection, dendrite
Hydrocephalus, congenital, X-linked
An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder.
Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradat
Early endosome membraneLate endosome membraneLysosome membraneCytoplasmic vesicle, autophagosome membraneMitochondrionCytoplasm, cytosol
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.
Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity)
Cell membraneApical cell membranePostsynaptic densityCell projection, dendriteCell junction, tight junctionSynapseSynapse, synaptosome
Hydrocephalus, congenital, 2, with or without brain or eye anomalies
A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive.
Variantes genéticas (ClinVar)
844 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 19 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 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 — Hidrocefalia congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Hidrocefalia congênita
Centros para Hidrocefalia congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
The pattern and outcome of infants and neonates undergoing endoscopic third ventriculostomy in Tanzania: an observational cohort study.
Hydrocephalus in infants is a substantial public health burden in East Africa. In sub-Saharan Africa, hydrocephalus is estimated to affect more than 100,000 new infants annually. Endoscopic third ventriculostomy (ETV) is considered a safe procedure and is a method of choice for the treatment of obstructive hydrocephalus. ETV outcomes in children older than 2 years are abundant; however, minimal outcomes data for infants and neonates younger than 2 months are available in the literature. The authors therefore sought to evaluate the patterns of presentation, endoscopic anatomy, and clinical outcomes in a cohort of infants younger than 6 months who underwent ETV at a major East African center. A retrospective cohort study was conducted using prospectively collected data from all patients with hydrocephalus who were younger than 6 months and underwent ETV or ETV with choroid plexus cauterization (CPC) at Muhimbili Orthopaedic Institute from June 2012 to December 2020. Demographic and clinical data were collected and included age, presentation, etiology, endoscopic anatomy, type of treatment, and clinical outcome. The primary outcomes were 1) ETV success and 2) ETV failure. Predictors of each outcome were assessed through univariate/multivariate logistic regression. Of the 325 infants treated for hydrocephalus, 62% were male, with a median age of 86 days; 69% of the infants presented with congenital hydrocephalus, 37% underwent ETV, and 48% underwent ETV/CPC. The ETV success rate at 4 weeks postoperatively was statistically significantly lower among infants aged 2 months or older compared with those younger than 2 months (0.88 vs 0.95, p = 0.022). No difference was seen 26 weeks postoperatively (0.63 vs 0.73, p = 0.116). At the 52nd week, the failure rates were 0.60 for infants aged 2 months or older versus 0.62 for those younger than 2 months, with no significant difference (p = 0.770). Despite prior findings that younger age has poor reliability in ETV, the use of ETV and combined ETV/CPC have shown better clinical outcomes than that with ventriculoperitoneal shunting in treating hydrocephalus in this study among African neonates.
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Disruption of the complex processes underlying central nervous system development leads to a broad spectrum of brain malformations and neurodevelopmental disorders, often with a genetic cause. Here, we report bi-allelic pathogenic variants in fibronectin type III and SPRY domain-containing 1-like (FSD1L), encoding a protein of unknown function, in eleven individuals, including five fetuses from six unrelated families. The phenotype ranges from severe hydrocephalus, corpus callosum agenesis, and absent pyramid decussation to a neurodevelopmental syndrome characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction. This phenotype closely resembles that observed in L1 syndrome, caused by pathogenic variants in L1CAM, encoding a neural adhesion molecule. The knockdown of Fsd1l in mouse embryos recapitulated the ventricular dilation observed in affected fetuses. Immunohistochemical studies in human control fetuses revealed that FSD1L localized to neurons with commissural fate and projection neurons during human development. Induced pluripotent stem cell (iPSC)-derived neural progenitor cells from affected individuals failed to differentiate into premature neurons and to properly form neurospheres while undergoing increased cell death. In neural progenitors, FSD1L localized with microtubules of the mitotic spindle during M phase and to the transition zone and along the axoneme of the primary cilium during interphase. In line with this, fibroblasts from affected individuals exhibited marked alterations of the mitotic spindle and reduced ciliogenesis and ciliary length compared to control cells. Our findings define FSD1L as a microtubule-associated protein implicated in neuronal differentiation, axon guidance, and fasciculation.
Prenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.
Valproate has a well-documented teratogenic risk, whereas lamotrigine and levetiracetam seem relatively safe. However, evidence for other antiseizure medications (ASMs) and specific congenital anomalies remains limited and inconsistent. We aimed to assess the risk of overall and specific congenital anomalies associated with prenatal exposure to individual ASMs. We conducted a retrospective cohort study using the Korean National Health Insurance Service mother-child linkage database from 2013 to 2021. Pregnant women aged 20-45 years with live births were included. Exposure was defined as the prescription of any ASM during the first trimester. The primary outcome was congenital anomalies in offspring identified by diagnostic codes within 1 year of birth. We estimated the odds ratios (ORs) for overall congenital anomalies, organ system anomalies, and specific congenital anomalies associated with prenatal exposure to ASMs compared with those in the unexposed group. Propensity score fine stratification was used to adjust for potential confounders. Among 2,494,958 pregnancies, 5,880 (0.24%) were exposed to ASMs during the first trimester. The mean maternal age at delivery was 32.9 years in the exposed group and 32.4 years in the unexposed group. ASM exposure was associated with an increased risk of overall congenital anomalies (OR 1.26, 95% CI 1.11-1.43). Among monotherapies, valproate had the highest risk (OR 1.46, 95% CI 1.11-1.91), showing a dose-dependent relationship (OR 1.57, 95% CI 1.12-2.19 at ≥500 mg/d). Polytherapy, including valproate, had a higher risk (OR 2.06, 95% CI 1.32-3.20), whereas polytherapy without valproate was not significantly associated with an increased risk (OR 1.26, 95% CI 0.92-1.71). Specific congenital anomalies associated with individual ASMs included congenital hydrocephalus (carbamazepine), atrial septal defects (oxcarbazepine), cleft palate (valproate), hypospadias (levetiracetam), and tetralogy of Fallot and talipes equinovarus (topiramate). This study revealed that prenatal exposure to valproate increased the risk of congenital anomalies. Although other ASMs, even in polytherapy, did not significantly increase the overall risk of congenital anomalies, carbamazepine, levetiracetam, oxcarbazepine, and topiramate were associated with specific types of congenital anomalies. Given the limited number of cases, these findings warrant further investigation in other populations. This study provides Class III evidence that prenatal exposure to valproic acid increases the risk of overall congenital anomalies while other ASMs, including carbamazepine, levetiracetam, oxcarbazepine, and topiramate, do not increase the risk of overall congenital anomalies.
Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.
Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
Congenital hydrocephalus (CH) represents a significant cause of pediatric morbidity. This study characterizes the clinical presentation, epidemiology, and long-term neurodevelopmental outcomes of children with CH, with emphasis on the role of prenatal diagnosis. Retrospective analysis of 102 children with CH who underwent neurosurgical intervention at the Department of Neurosurgery, Habib Bourguiba Hospital, Sfax, Tunisia, over 15 years. Data regarding demographics, clinical presentation, etiology, surgical outcomes, and long-term neurodevelopmental outcomes were systematically analyzed. Estimated incidence was 0.1 per 1,000 live births, with median age at presentation of 7 months (male predominance, sex ratio 1.4:1). Familial history was documented in 8% of cases. Presenting features included increased head circumference (89%) and bulging fontanelle (70%). Hydrocephalus was associated with myelomeningocele in 38 cases (20% prenatally detected), with spina bifida representing the most common etiology (40%). Postoperative complications occurred in 43% of cases. Long-term follow-up (1 month to 16 years; median: 4 years) of 55 patients demonstrated that 32 (58%) attended mainstream school. Among 27 patients with sphincter dysfunction, 23 (85%) had concurrent myelomeningocele. Normal speech development occurred in 39%, while 15 patients (15%) exhibited paraplegia and 22 (22%) developed seizure disorder. Congenital hydrocephalus management requires multidisciplinary approach. These findings provide epidemiological data to inform prenatal diagnosis and prognostication strategies in resource-limited settings.
Publicações recentes
Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.
Individualized treatment strategies and long-term prognosis of congenital hydrocephalus: an integrated analysis based on multicenter retrospective data and machine learning.
Congenital Chylous Ascites in a Neonate with Isolated Aqueductal Stenosis: A Case Report and Literature Review.
A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.
Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
📚 EuropePMC470 artigos no totalmostrando 198
A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.
Annals of Ibadan postgraduate medicineCongenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
World neurosurgeryThe pattern and outcome of infants and neonates undergoing endoscopic third ventriculostomy in Tanzania: an observational cohort study.
Journal of neurosurgery. PediatricsBi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
American journal of human geneticsTreatment failure after endoscopic third ventriculostomy with choroid plexus cauterization, endoscopic third ventriculostomy alone, and ventriculoperitoneal shunt in congenital hydrocephalus: a network and time-to-event meta-analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryManagement of a congenital arachnoid cyst in a newborn with obstructive hydrocephalus: A multistage surgical approach and neurodevelopmental outcome.
Surgical neurology internationalCongenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications.
Molecular genetics and metabolism reportsLetter: Brain Imaging Findings Show Efficacy of Fetal Endoscopic Third Ventriculostomy as Prenatal Treatment for Induced Congenital Hydrocephalus in Fetal Lambs.
NeurosurgeryA pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.
Journal of medical case reportsPrenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.
NeurologySpp1 Appears to Be a Key Gene for Sporadic Obstructive Hydrocephalus in the Absence of AQP4.
International journal of molecular sciencesCongenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency.
CureusRisk Factors for Ventriculoperitoneal Shunt Infection: A Systematic Review and Meta-Analysis.
Brain sciencesFactors affecting infection risk and revision rates in shunted pediatric hydrocephalus: 10 years of data from a single academic center.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[External validation of the ETVSS scale for predicting the outcomes after third ventriculostomy in children less than one year of age with obstructive hydrocephalus].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoClinical Approach and Successful Intervention of Congenital Hydrocephalus in Neonatal Calf.
Veterinary medicine and scienceSocioeconomic Disparities in the Presentation, Management, and Outcomes of Cerebrospinal Fluid Diversion Procedures.
World neurosurgeryVentriculoperitoneal Shunt-Associated Cerebrospinal Fluid Pseudocyst Presenting as Abdominal Distension and Pain in an Adult Female Patient: A Case Report.
CureusA pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.
The Journal of clinical investigationAdverse events during pregnancy, circulating metabolites, and congenital malformations: a Mendelian randomization study.
BMC pregnancy and childbirthRationale for the use of fetal ventriculosubgaleal shunts for the treatment of aqueduct stenosis.
Journal of perinatal medicineImaging Diagnosis of Hydrocephalus in a Fox Cub-Case Study.
Life (Basel, Switzerland)Brain Imaging Findings Show Efficacy of Fetal Endoscopic Third Ventriculostomy as Prenatal Treatment for Induced Congenital Hydrocephalus in Fetal Lambs.
NeurosurgeryCryo-Depleted Plasma Infusions for Ligneous Conjunctivitis.
Case reports in ophthalmologyWhen the Unexpected Happens: Diffuse Alveolar Hemorrhage in Negative-Pressure Pulmonary Edema.
CureusProfound Near Fatal Respiratory Dysfunction in a Neonate With Meningomyelocele: A Narrative With Neurosurgical Lessons.
Case reports in pediatricsCRB2-Related Syndrome in 2 New Patients: Three Novel Variants.
Molecular syndromologyPrenatal intervention in congenital obstructive hydrocephalus: Rationale, eligibility, and techniques.
Best practice & research. Clinical obstetrics & gynaecologyPathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
Journal of child neurologyIncreased Periventricular Inflammation and Toll-Like Receptor-4 Expression Is Present in Early Congenital Hydrocephalus.
Pediatric neurologyThe Hydrocephalus Association Patient-Powered Interactive Engagement Registry (HAPPIER): Design and Initial Baseline Report.
Clinical epidemiologyA 3D SVZonChip Model for In Vitro Mimicry of the Subventricular Zone Neural Stem Cell Niche.
Bioengineering (Basel, Switzerland)Unveiling the Possibility of Subclinically Present Congenital Hydrocephalus Triggered by Thalamic Hemorrhage in Late-onset Years: A Case Report.
NMC case report journalSurgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.
CureusSurgical outcomes of ventriculoperitoneal shunts in the Gaza Strip: Insights from a conflict zone and low-resource setting.
Neuro-ChirurgieCase Report: Hypodipsic hypernatremia secondary to hydrocephalus in a dog.
Frontiers in veterinary scienceRadionuclide Shunt Scintigraphy Technique in Diagnosing Ventriculoperitoneal Shunt Malfunction and Patency: A Case Study and Review of Literature.
CureusIn-utero Therapy for Fetal Aqueductal Stenosis.
Clinical obstetrics and gynecologyGenetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.
Movement disorders : official journal of the Movement Disorder SocietyHuman tripartite motif-containing protein 71 NCL-1/HT2A/LIN-41 domain crystal structure and its potential natural inhibitors.
International journal of biological macromoleculesAutomated Detection of Hydrocephalus in Pediatric Head Computed Tomography Using VGG 16 CNN Deep Learning Architecture and Based Automated Segmentation Workflow for Ventricular Volume Estimation.
Journal of imaging informatics in medicineLongitudinal Hammersmith Infant Neurological Examination (HINE) Trajectories in Children with Cerebral Palsy Identified in High-Risk Follow-Up.
Journal of clinical medicineCase Report: Ultralow-field portable MRI improves the diagnosis of congenital hydrocephalus.
Frontiers in pediatricsThe Neuropsychology of Adult Hydrocephalus.
Neurosurgery clinics of North AmericaA case of meningitis treated with intraventricular vancomycin in an infant.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapyElectroconvulsive therapy for depression in a patient with a programmable ventriculoperitoneal shunt in situ for congenital hydrocephalus.
British journal of neurosurgeryVentriculo-pleural shunt --- A second line option in the management of complex hydrocephalus.
The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and IrelandNeurogenesis and glial impairments in congenital hydrocephalus: insights from a BioGlue-induced fetal lamb model.
Fluids and barriers of the CNSPTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
Nature neuroscienceInfective Endocarditis as a Complication of a Ventriculoatrial Shunt.
JACC. Case reportsAdvancing Hydrocephalus Management: Pathogenesis Insights, Therapeutic Innovations, and Emerging Challenges.
Aging and diseaseNeonatal Abandonment and Hydrocephalus in Antillean Manatees (Trichechus manatus manatus): Is There a Causal Relationship?
Animals : an open access journal from MDPIRisk Factors for 30-Day Postoperative Infection in Pediatric Ventricular Shunts for Hydrocephalus.
World neurosurgeryMedical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly.
Fetal diagnosis and therapyDe novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Brain : a journal of neurology"Dangling choroid" with contralateral glomus displacement and ischemic torsion in congenital hydrocephalus: illustrative case.
Journal of neurosurgery. Case lessonsLoss of Dnah5 Downregulates Dync1h1 Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus.
CellsAtypical delayed ventriculoperitoneal shunt infection following hysteroscopic polypectomy: illustrative case.
Journal of neurosurgery. Case lessonsUnilateral Exophthalmos as the First Sign of Chronic Obstructive Hydrocephalus in a Pediatric Patient: A Case Report.
CureusArmored brain as a late complication of CSF overshunting: A rare case report.
Radiology case reportsWALANT technique for acute compartment syndrome of the arm in a COVID-19 patient: A case report.
International journal of surgery case reportsZebrafish as a Model Organism for Congenital Hydrocephalus: Characteristics and Insights.
ZebrafishThe Ventriculoperitoneal Shunt Complication Rate in Baghdad Medical City from 2019 to 2022.
World neurosurgeryThe economic burden of ventriculoperitoneal shunt insertion and its complications: findings from a cohort in the Philippines.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUtility of cell index in the diagnosis of healthcare-associated ventriculitis and meningitis: an analytical cross-sectional study.
BMC infectious diseasesRGS22 maintains the physiological function of ependymal cells to prevent hydrocephalus.
Science China. Life sciencesThe L1CAM SAX-7 is an antagonistic modulator of Erk Signaling.
bioRxiv : the preprint server for biologyRevision and Infection Rate in 728 Shunt-Treated Adult Hydrocephalus Patients-a Single-Center Retrospective Study.
World neurosurgeryNovel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Clinical geneticsThe Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review.
Prenatal diagnosisCerebellar Haemorrhage After Corrective Surgery for Scoliosis in a Girl with Arrested Hydrocephalus.
Annals of Indian Academy of NeurologyResearch status of fetal hydrocephalus from 2003 to 2022 based on bibliometric analysis.
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International journal of molecular sciencesPeripheral white blood cell patterns in children with hydrocephalus as a response to ventriculo-peritoneal shunt infection.
PloS oneMolecular signatures of normal pressure hydrocephalus: a large-scale proteomic analysis of cerebrospinal fluid.
Fluids and barriers of the CNSMature congenital intraventricular intracranial teratoma: A case report and literature review.
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Fetal diagnosis and therapyDysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
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Fluids and barriers of the CNSPathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Proceedings of the National Academy of Sciences of the United States of AmericaQuality of life and functional vision in adolescents with surgically treated hydrocephalus in infancy.
Acta paediatrica (Oslo, Norway : 1992)TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Brain : a journal of neurologyExpanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart.
Prenatal diagnosisBiomechanical instability of the brain-CSF interface in hydrocephalus.
Brain : a journal of neurologyPaediatric hydrocephalus.
Nature reviews. Disease primersAtresia of the Aqueduct of Sylvius as a cause of congenital hydrocephalus.
Radiology case reportsProspects of CSF shunt independence among chronically shunted patients.
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Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeThe Utilization of Computed Tomography in the Pediatric Emergency Department for Patients With Ventriculoperitoneal Shunts.
CureusSuccessful treatment of penicillin-resistant pneumococcal meningitis following ventriculo-peritoneal shunt for congenital hydrocephalus: A case report on the efficacy of linezolid.
Asian journal of surgeryProteomic Profiling of Cerebrospinal Fluid and Its Extracellular Vesicles from Extraventricular Drainage in Pediatric Pilocytic Astrocytoma, towards Precision Oncology.
CancersPrenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Prenatal diagnosisMolecular Signatures of Normal Pressure Hydrocephalus: A Largescale Proteomic Analysis of Cerebrospinal Fluid.
bioRxiv : the preprint server for biologyA selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis.
Frontiers in cellular neuroscienceAn Infant-Type Hemispheric Glioma With SOX5::ALK: A Novel Fusion.
Journal of the National Comprehensive Cancer Network : JNCCNAn Atypical Presentation of Pancreatitis Secondary to a Ventriculoperitoneal Shunt.
CureusA Review of Cerebrospinal Fluid Circulation and the Pathogenesis of Congenital Hydrocephalus.
Neurochemical researchDelays in care for hydrocephalus and spina bifida at a tertiary hospital in Somaliland.
World journal of pediatric surgeryBowel perforation and anal ventriculoperitoneal shunt migration: A systematic review.
Journal of Taibah University Medical SciencesMigration of the distal ventriculoperitoneal shunt catheter into the stomach with or without trans-oral extrusion: A systematic literature review and meta-analysis.
World journal of clinical pediatricsCCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Clinical genetics"Various factors affecting the success of the ETV procedure in infants"-an insight via a prospective study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIdentification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study.
BiomoleculesA novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain : a journal of neurologyGenetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.
Birth defects researchClosed-Loop Bowel Obstruction Induced by Ventriculoperitoneal Shunt Catheter Coiling at the Sigmoid Colon: A Case Report.
CureusMolecular mechanism governing RNA-binding property of mammalian TRIM71 protein.
Science bulletinImplications of Exome Sequencing for Patients With Congenital Hydrocephalus.
JAMA network openMolecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
JAMA network openThe "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.
Cerebral cortex (New York, N.Y. : 1991)Congenital Pediatric Hydrocephalus in the Brazilian Public Health System: The Reality of a Middle-Income Country in the Past 13 Years.
World neurosurgerySurgery of Cranial Deformity Following Ventricular Shunting: A Multicenter Study.
Turkish neurosurgeryCerebrospinal fluid as vaginal discharge: ventriculoperitoneal shunt migration following Cesarean section.
Minerva obstetrics and gynecologyX-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Molecular syndromologyProgrammable Versus Differential Pressure Ventriculoperitoneal Shunts for Pediatric Hydrocephalus: A 20-Year Single-Center Experience From Saudi Arabia.
CureusAbdominal pseudocyst complicating ventriculoperitoneal shunt: A rare indication for ventriculopleural shunt conversion.
Clinical case reportsCombined medical and surgical approach in the management of ligneous conjunctivitis in a pediatric patient: A case report.
International journal of surgery case reportsRapidly Deteriorating Degenerative Cervical Myelopathy Following Ventricular Shunt Revision for Hydrocephalus: Case Report.
Interactive journal of medical researchSMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Prenatal diagnosisEffect of tolvaptan on hyponatremia in a dog with syndrome of inappropriate secretion of antidiuretic hormone.
The Journal of veterinary medical scienceRight Transcephalic Ventriculo-Subclavian Shunt in the Surgical Treatment of Hydrocephalus-An Original Procedure for Drainage of Cerebrospinal Fluid into the Venous System.
Journal of clinical medicineSmartphone-based thermography to determine shunt patency in patients with hydrocephalus.
Acta neurologica BelgicaSevere hyperglycorrhachia and status epilepticus after endoscopic aqueductoplasty: illustrative case.
Journal of neurosurgery. Case lessonsA case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscope.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryConvergence of multiple RNA-silencing pathways on GW182/TNRC6.
Molecular cellProteomic Analyses Reveal Functional Pathways and Potential Targets in Pediatric Hydrocephalus.
Current gene therapyCerebrospinal fluid liver pseudocyst: A bizarre long-term complication of ventriculoperitoneal shunt: A case report.
World journal of hepatology"Floppy brain" in congenital hydrocephalus.
Cerebral cortex (New York, N.Y. : 1991)Disrupted neurogenesis, gliogenesis, and ependymogenesis in the Ccdc85c knockout rat for hydrocephalus model.
Cells & developmentEndoscopic Third Ventriculostomy in a 12-Year-Old With Recurrent Failure of Ventriculoperitoneal Shunts.
CureusX-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.
Experimental neurologyDifferences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsAdherens, tight, and gap junctions in ependymal cells: A systematic review of their contribution to CSF-brain barrier.
Frontiers in neurologyIntracranial migration of a ventriculoperitoneal shunt: A case report and literature review.
Surgical neurology internationalRole of Ommaya Reservoir in Pediatric Hydrocephalus: Experience in Bangladesh Medical College Hospital from 2019-2021.
Mymensingh medical journal : MMJA novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv : the preprint server for health sciencesGeneration of Periventricular Reactive Astrocytes Overexpressing Aquaporin 4 Is Stimulated by Mesenchymal Stem Cell Therapy.
International journal of molecular sciencesEEG Correlates of Spikes in Intracranial Pressure Caused by Transient Ventriculoperitoneal Shunt Malfunction.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyCongenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Human genomicsBi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Acta neuropathologica communicationsCongenital hydrocephalus diagnosed in a nonagenarian: Case report.
The neuroradiology journalRisk factors of congenital hydrocephalus: a case-control study in a lower-middle-income country (Egypt).
Journal of neurosurgery. PediatricsAcquired hump of the corpus callosum: a rare morphologic complication after CSF shunting.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFatal complication caused by laxative suppository agent on pediatric patient with hydrocephalus on ventriculo-peritoneal shunt: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGain-of-function mutations in Trim71 linked to congenital hydrocephalus.
PLoS biologyDifferent congenital hydrocephalus-associated mutations in Trim71 impair stem cell differentiation via distinct gain-of-function mechanisms.
PLoS biologyTechnique for the Management of Extensive Ocular Surface Lipodermoid Involving the Cornea of Children.
CorneaDetection of Malpositioned VP Shunt Catheter by Radionuclide CSF Cisternography.
Clinical nuclear medicineUpward spontaneous migration of ventriculoperitoneal shunt into the heart: A case report summary.
Journal of cardiovascular and thoracic researchThe genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Brain communicationsIs It Possible to Eliminate Postoperative Shunt Infections?: Results of a Modified Hydrocephalus Clinical Research Network Protocol.
Journal of neurological surgery. Part A, Central European neurosurgeryDelayed-onset ligneous conjunctivitis as a rare association with congenital hydrocephalous: a case report and review of the literature.
Digital journal of ophthalmology : DJOThe effect of shunt removal on the quality of life in patients with congenital hydrocephalus.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCerebral spinal fluid overdrainage from shunt tap using large bore coring needle: A case report.
Surgical neurology internationalRetinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
Ophthalmic geneticsA congenital hydrocephalus-causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation.
EMBO reportsKIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Human geneticsEarly Regressive Development of the Subcommissural Organ of Two Human Fetuses with Non-Communicating Hydrocephalus.
Children (Basel, Switzerland)Epidemiology of hydrocephalus in Brazil.
Jornal de pediatria[Multiple Correspondence of Abnormal Birth History with Genetic and Environmental Risk Factors].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeLeft Ventricular Non-compaction in a 40-Year-Old Male With Congenital Hydrocephalus.
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MaedicaA novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family.
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MedicineCompound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.
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Pediatric health, medicine and therapeuticsAn eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.
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Asian journal of neurosurgeryFrequency of success and complications of primary endoscopic third ventriculostomy in infants with obstructive hydrocephalous.
Pakistan journal of medical sciencesCongenital hydrocephalus in three sheep: Clinical, electroencephalographic and pathological features.
Veterinarni medicinaEarly Anal Protrusion of Distal Ventriculoperitoneal Catheter Due to Iatrogenic Colonic Perforation: A Case Report and Review of Literature.
CureusPositron Emission Tomography Scan: A Good Way to Untie the Gordian Knot of Infection in Case of Multiple Ventriculoperitoneal Shunts.
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NeuronRefractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus.
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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.
- The pattern and outcome of infants and neonates undergoing endoscopic third ventriculostomy in Tanzania: an observational cohort study.
- Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
- Prenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.
- Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
- Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
- Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.
- Individualized treatment strategies and long-term prognosis of congenital hydrocephalus: an integrated analysis based on multicenter retrospective data and machine learning.
- Congenital Chylous Ascites in a Neonate with Isolated Aqueductal Stenosis: A Case Report and Literature Review.
- A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2185(Orphanet)
- MONDO:0016349(MONDO)
- GARD:6682(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345956(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.
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