Hidrocefalia é, de forma genérica, a acumulação de líquido cefalorraquidiano (LCR) no interior da cavidade craniana, que por sua vez, faz aumentar a pressão intracraniana sobre o cérebro, podendo vir a causar lesões no tecido cerebral, havendo o aumento e inchaço do crânio.
Introdução
O que você precisa saber de cara
Hidrocefalia congênita não-comunicante é uma condição rara de acúmulo de líquido cefalorraquidiano no cérebro, causada por obstruções no fluxo, com herança autossômica recessiva associada a genes como WDR81 e CCDC88C.
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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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
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.
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.
Variantes genéticas (ClinVar)
388 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 não-comunicante congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Hidrocefalia não-comunicante congênita
Centros para Hidrocefalia não-comunicante 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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
How hydrocephalus rates and brain development differ between myelomeningocele (MMC; with overlying sac) and myeloschisis (without overlying sac) is poorly understood. In this study, the authors compare rates of and age at CSF diversion as well as brain anatomy in patients with MMC and myeloschisis after prenatal and postnatal repair. Demographic and clinical data were retrospectively collected from open spinal dysraphism patients who underwent prenatal or postnatal repair between 2015 and 2024 at Washington University in St. Louis. The need for and timing of permanent CSF diversion and brain imaging characteristics on the first postnatal MRI examination were compared by lesion type (myeloschisis vs MMC). The following imaging characteristics were examined: ventricular anatomy; corpus callosum, massa intermedia, tectum, and septum pellucidum morphology; the presence of gray matter heterotopias; hindbrain herniation; and medullary kinking/compression/displacement below foramen magnum. A total of 98 patients (48% female, 88% Caucasian) were included. There were 21 (21%; 9 prenatal repair, 12 postnatal repair) myeloschisis and 77 (79%; 29 prenatal repair, 48 postnatal repair) MMC patients with similar distribution of lesion levels (p = 0.115). After both prenatal (relative risk [RR] 2.17, 95% CI 1.14-5.62) and postnatal (RR 1.33, 95% CI 1.07-1.65) repair, more patients with myeloschisis than MMC required CSF diversion. Those with prenatally repaired MMC (median 94 days, range 15-154 days) underwent CSF diversion earlier than those with myeloschisis (median 210 days, range 13-357 days) (Hodges-Lehmann Δ114, 95% CI 2-226). However, this was no longer significant after adjusting for fetal atrial diameter, the presence of hindbrain herniation, and medullary compression (β = 75 days, 95% CI -78 to 229). There were minimal differences in brain imaging characteristics except for an increased presence of hindbrain herniation (4 [44%] myeloschisis patients vs 6 [21%] MMC patients; Δ23.8, 95% CI -11.9 to 59.4) and a decreased presence of posterior fossa crowding (2 [22%] myeloschisis patients vs 15 [52%] MMC patients; Δ30.3, 95% CI 3.0-62.1) in patients with myeloschisis versus MMC that was repaired prenatally. Patients with myeloschisis have an increased need for CSF diversion after both prenatal and postnatal repair compared to those with MMC, which may be a consequence of increased rates of hindbrain herniation. The timing of CSF diversion after prenatal repair occurs later in patients with myeloschisis, which may be a consequence of lower rates of medullary compression. These findings suggest that there may be differences in pathophysiology between lesion types and may help with patient counseling.
Dermal sinus in children: epidemiology, diagnosis, and management of a retrospective cohort.
Dermal sinus (DS) is a rare congenital disorder characterized by an epithelium-lined tract extending inward from the skin, potentially causing severe neurological complications. The current literature is limited by small sample sizes and insufficient analytical depth, hindering clear diagnostic and management guidelines. This is the largest study to comprehensively analyze epidemiological, diagnostic, and management outcomes in order to enhance clinical guidance for pediatric DS. The medical records of 107 DS patients (60 males and 46 females; mean ± SD age 2.99 ± 2.67 years) admitted to Beijing Children's Hospital over a 15.62-year period were retrospectively reviewed, with a focus on patient demographic characteristics, clinical presentations, imaging findings, and treatment interventions. Factors associated with clinical outcomes were analyzed using the 2-sided Fisher's exact test (p < 0.05). The mean ± SD prehospital delay was 236 ± 474 days. Infection prevalence was high (80%), primarily meningitis (55%) and myelitis (42%). Neurological deficits were present in 76% of cases. MRI sensitivity was high (94%) for DS tract detection but limited for assessing intradural terminations and inclusion cyst types. The complete resection rate (76%) improved significantly when patients achieved preoperative normalization of body temperature and had sufficient posttherapy waiting periods (> 7 days). Preoperative complications were associated with less favorable outcomes, with 77% of symptomatic patients fully recovering. Recurrence (6%) exclusively followed incomplete resection and was significantly associated with abscesses, hydrocephalus, and shorter posttherapy waiting periods. Early sign recognition, complementary imaging modalities, careful preoperative management to reduce inflammation, and timely individualized surgical planning balancing neural preservation and recurrence risk are essential for optimizing outcomes in DS.
Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.
Dandy-Walker syndrome is typically characterized by near-complete cerebellar vermis agenesis, enlarged posterior fossa, and dilated fourth ventricle. By contrast, Dandy-Walker variant (DWv) shows milder features, typically characterized by partial agenesis of the cerebellar vermis, mild enlargement of the posterior fossa, and variable dilation of the fourth ventricle. Both conditions are usually associated with normal or enlarged head circumference. We report a 16-month-old girl presenting with congenital microcephaly, frequent seizures, and severe global developmental delay. Brain MRI revealed findings consistent with DWv, which did not explain the severity of her clinical symptoms or her microcephaly. Chromosomal microarray analysis revealed multiple regions of homozygosity on chromosome 11, indicating potential recessive inheritance; karyotype analysis and mitochondrial testing showed no clear etiology. Trio-based whole-exome sequencing identified a heterozygous variant (NM_021096.4:c.4891T>A/p.Phe1631Ile) in CACNA1I and a homozygous variant (NM_002335.4:c.1310C>T/p.Thr437Met) in LRP5. Variants in CACNA1I are associated with neurodevelopmental disorders, including epilepsy and developmental delay, while variants in LRP5 are linked to osteoporosis and microcephaly. Based on the clinical presentation and molecular findings, we hypothesize that both variants contributed to the patient's complex phenotype. This case highlights that in patients with unusually severe or atypical manifestations, the possibility of multiple genetic pathogenic contributions should be considered, and comprehensive genomic evaluation is essential for accurate diagnosis and management.
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.
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Journal of neurosurgery. Pediatrics[External validation of the ETVSS scale for predicting the outcomes after third ventriculostomy in children less than one year of age with obstructive hydrocephalus].
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Birth defects researchCharacterizing congenital encephaloceles: epidemiological insights and clinical outcomes in a 12-year single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDental Management of Child with Myelomeningocele Associated with Type II Arnold-Chiari Malformation: Case Report and Review of Literature.
International journal of clinical pediatric dentistryCache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.
American journal of veterinary researchA radiological finding suggesting Blake's pouch cyst: A rare pediatric anomaly associated with hydrocephalus - A case report.
Surgical neurology internationalAnesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.
Journal of medical casesOverview of pediatric hydrocephalus in Nigeria: A systematic review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEndoscopic Third Ventriculostomy in Hydrocephalus Due to Complex Congenital Heart Disease: A Case Report.
CureusExploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.
The Medical journal of MalaysiaOpen fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.
Archivos argentinos de pediatriaCongenital Abnormalities.
The Veterinary clinics of North America. Small animal practiceSocioeconomic Disparities in the Presentation, Management, and Outcomes of Cerebrospinal Fluid Diversion Procedures.
World neurosurgeryA Rare Cause of Headache in the Emergency Department: A Case Report.
The Journal of emergency medicineExploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.
Journal of molecular neuroscience : MN5-year follow up after successful craniopagus separation: Review on hydrocephalus and venous system re-arrangement.
Neuro-ChirurgieVentriculoperitoneal Shunt-Associated Cerebrospinal Fluid Pseudocyst Presenting as Abdominal Distension and Pain in an Adult Female Patient: A Case Report.
CureusAn Overview of Developmental Disorders Leading to Dystocia in Cattle.
Reproduction in domestic animals = ZuchthygieneThe RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.
Proceedings of the National Academy of Sciences of the United States of AmericaA 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 medicineCongenital Malformations of the Central Nervous System Caused by Bluetongue Virus Serotype 3 (BTV-3) in Two Calves.
Veterinary sciencesBarriers to Timely Referral of Children Born with Myelomeningocele in Zambia.
Journal of clinical 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.
NeurosurgeryDiffuse bilateral cerebral calcification caused by Vein of Galen aneurysmal malformation in a two-year-old child: A rare presentation.
Radiology case reportsSurgical interventions for fetal hydrocephalus: systematic review.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyX-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.
Clinical case reportsTessier type 3 facial clefts: A case report and literature review.
International journal of surgery case reportsCryo-Depleted Plasma Infusions for Ligneous Conjunctivitis.
Case reports in ophthalmologyFirst case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.
International journal of surgery case reportsWhen the Unexpected Happens: Diffuse Alveolar Hemorrhage in Negative-Pressure Pulmonary Edema.
CureusQuality of life in children with myelomeningocele undergoing intrauterine repair and postnatal surgery.
The journal of spinal cord medicineProfound Near Fatal Respiratory Dysfunction in a Neonate With Meningomyelocele: A Narrative With Neurosurgical Lessons.
Case reports in pediatricsEffective endovascular treatment of veins of Galen malformation in a child: A case study.
Radiology case reportsCase Report: Staged epicardial pacemaker implantation in a 740 g ELBW infant with 25 + 2 weeks of GA with congenital complete heart block.
Frontiers in pediatricsTime to Death and Predictors Among Neonates with Neural Tube Defects in Two Public Hospitals, Addis Ababa, Ethiopia: A Retrospective Follow-Up Study.
Pediatric health, medicine and therapeuticsCRB2-Related Syndrome in 2 New Patients: Three Novel Variants.
Molecular syndromologyHydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management.
BiomedicinesPrenatal intervention in congenital obstructive hydrocephalus: Rationale, eligibility, and techniques.
Best practice & research. Clinical obstetrics & gynaecologyTectal gliomas as a rare finding in presumed idiopathic congenital aqueductal stenosis: patient series.
Journal of neurosurgery. Case lessonsDpcd Induces Hydrocephalus Because of Partial Defects in the Inner Dynein Arms, With Abnormal Ciliary Motility.
Cytoskeleton (Hoboken, N.J.)Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
Journal of child neurologyBroad 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 MexicoCongenital toxoplasmosis.
Seminars in pediatric neurologyFoundations of Myelomeningocele Management: History, Embryology, Diagnosis, and Treatment of Myelomeningoceles Through the Sheffield Study.
World neurosurgeryIncreased Periventricular Inflammation and Toll-Like Receptor-4 Expression Is Present in Early Congenital Hydrocephalus.
Pediatric neurologyDandy-Walker malformation associated with massive occipital encephalocele: A case report.
International journal of surgery case reportsCraniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.
BMJ case reportsA Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.
Molecular syndromologyTreatment with Plasma Transfusion and Plasma-Derived Human Plasminogen in a Newborn with Plasminogen Deficiency and Recurrent Hydrocephalus: A Case Report.
NeonatologyThe Hydrocephalus Association Patient-Powered Interactive Engagement Registry (HAPPIER): Design and Initial Baseline Report.
Clinical epidemiologyNeural stem cell changes and spatial distribution of AQP4 expression in a fetal goat model of obstructive hydrocephalus.
IBRO neuroscience reportsMPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.
GenesA 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 journalQuantification of Zika virus using a colloidal gold nanoparticle-based immunosensor and Fourier-transform infrared spectroscopy.
Journal of virological methodsCytomegalovirus (CMV) Infection in Pregnancy Resulting in Neonatal Mortality Due to Congenital CMV: A Case Report.
CureusSurgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.
CureusDe Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.
Journal of veterinary internal medicine'VACTERL-H in newborn: A rare case report'.
Journal of neonatal-perinatal medicineRehabilitation in a child with Chiari II malformation, lumbosacral meningomyelocele, achondroplasia and impaired respiratory regulation - a case report and literature review.
Journal of pediatric rehabilitation medicineTwo Cerebrospinal Fluid (CSF) Diversion Procedures for Two Separate CSF Pathologies in a 19-Year-Old Male: A Case Report.
CureusSurgical outcomes of ventriculoperitoneal shunts in the Gaza Strip: Insights from a conflict zone and low-resource setting.
Neuro-ChirurgieA Case Report of an Adverse Outcome: Development of a Dural Arteriovenous Fistula Following Foramen Magnum Decompression for Chiari Malformation.
CureusRadiographic Evaluation of Normal Pressure Hydrocephalus.
Continuum (Minneapolis, Minn.)Case Report: Hypodipsic hypernatremia secondary to hydrocephalus in a dog.
Frontiers in veterinary scienceRisk factors for neural tube defects in the war and siege-affected tigray regional state of ethiopia: a case-control study.
BMC pregnancy and childbirthRadionuclide Shunt Scintigraphy Technique in Diagnosing Ventriculoperitoneal Shunt Malfunction and Patency: A Case Study and Review of Literature.
CureusSpinal Ultrasound Assessment of Correlation Between Intraventricular Hemorrhage Severity and Cerebrospinal Fluid Volume in Preterm Infants.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineTransarterial embolization for infants under 3 months of age with refractory seizures due to hemimegalencephaly: complication analysis and evolution of treatment strategy.
Journal of neurointerventional surgeryUnraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.
International journal of clinical pediatric dentistryCongenital Disseminated Pyogenic Granuloma: A Case With Numerous Mucocutaneous and Visceral Lesions.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Machine learning-based assessment of seizure risk predictors in myelomeningocele patients: A single-center retrospective cohort study.
Qatar medical journalInvestigating the types of microorganisms causing cerebrospinal fluid shunt infection in King Abdullah University Hospital in Jordan.
Qatar medical journalDual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.
American journal of medical genetics. Part AIn-utero Therapy for Fetal Aqueductal Stenosis.
Clinical obstetrics and gynecologyUpper thoracic spinal schwannoma leading to intracranial hypertension and hydrocephalus: A case report and literature review.
MedicineGenetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.
Movement disorders : official journal of the Movement Disorder SocietyA retrospective outpatient department-based study of the pattern of first-visit pediatric neurosurgical disorders: a 6-year single-center experience in Ghana.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHuman tripartite motif-containing protein 71 NCL-1/HT2A/LIN-41 domain crystal structure and its potential natural inhibitors.
International journal of biological macromoleculesDandy-Walker malformation associated with hydrocephalus in a 15-month-old child: A case report with literature review.
International journal of surgery case reportsAmniotic Membrane Interposition Graft for Open Fetal Myelomeningocele Repair.
Operative neurosurgery (Hagerstown, Md.)Diencephalic-mesencephalic junction dysplasia: case report and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRisk factors and influence on neurodevelopmental outcomes of neonatal seizures in very low birth weight infants based on nationwide cohort.
Scientific reportsUnraveling Dandy-Walker Malformation: A Comprehensive Literature Review and Case Insight.
Clinical case reportsCongenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate.
Radiology case reportsUnilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.
Annals of medicine and surgery (2012)Automated 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 medicineValidation of data capture in the Australasian shunt registry with a prospectively maintained institutional database.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaCase Report: Ultralow-field portable MRI improves the diagnosis of congenital hydrocephalus.
Frontiers in pediatricsChildhood disabilities, household poverty, and inequality: A population-based case-control study in rural Bangladesh.
Developmental medicine and child neurologyThe Neuropsychology of Adult Hydrocephalus.
Neurosurgery clinics of North AmericaAdult Hydrocephalus Clinical Subtypes.
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 ChemotherapyRecessive genetic contribution to congenital heart disease in 5,424 probands.
Proceedings of the National Academy of Sciences of the United States of AmericaElectroconvulsive therapy for depression in a patient with a programmable ventriculoperitoneal shunt in situ for congenital hydrocephalus.
British journal of neurosurgeryImplementation of in utero laparotomy-assisted fetoscopic spina bifida repair in two centers in Latin America: rationale for this approach in this region.
AJOG global reportsHydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.
Malawi medical journal : the journal of Medical Association of MalawiVentriculo-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 neuroscienceTransient pharmacological inhibition of SUMOylation during pregnancy induces craniofacial malformations in offspring mice.
European journal of cell biologyManagement and Outcomes in Isolated Congenital Aqueductal Stenosis: A Single-Center Retrospective Cohort Study.
Prenatal diagnosisAllosteric inhibition rescues hydrocephalus caused by catalytically inactive Shp2.
bioRxiv : the preprint server for biologyInfective Endocarditis as a Complication of a Ventriculoatrial Shunt.
JACC. Case reportsCongenital alopecia with multiple nodules over face in an infant.
BMJ case reportsSpinal rhabdomyosarcoma in a child at the site of a lumbosacral lipoma: a rare entity.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPediatric Chiari Malformation Management: WFNS Spine Committee Recommendations.
SpineA Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.
Molecular syndromologyAdvancing Hydrocephalus Management: Pathogenesis Insights, Therapeutic Innovations, and Emerging Challenges.
Aging and diseaseUsing Artificial Intelligence to Identify Three Presenting Phenotypes of Chiari Type-1 Malformation and Syringomyelia.
NeurosurgeryCanadian Association of Radiologists Central Nervous System Diagnostic Imaging Referral Guideline.
Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistesSuccess Rate of Endoscopic Third Ventriculostomy in Children Younger Than 1 Year With Idiopathic Congenital Aqueductal Stenosis and Long-term Follow-up.
Journal of child neurologyNeonatal Abandonment and Hydrocephalus in Antillean Manatees (Trichechus manatus manatus): Is There a Causal Relationship?
Animals : an open access journal from MDPIHydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Diagnostics (Basel, Switzerland)Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.
Journal of community geneticsLate Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report.
Journal of neurological surgery reportsRisk 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 therapyHydranencephaly in a Newborn: A Case Report and a Review of the Literature.
CureusA Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
GenesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
- Dermal sinus in children: epidemiology, diagnosis, and management of a retrospective cohort.
- Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.
- 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.
- Survival outcomes and risk factors for ventriculo-peritoneal shunt failure in pediatric hydrocephalus: a multi-center cohort study in Vietnam.
- Treatment 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.
- Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
- A 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:269510(Orphanet)
- MONDO:0017117(MONDO)
- GARD:17272(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345979(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
