Raras
Buscar doenças, sintomas, genes...
Hidrocefalia não-comunicante congênita
ORPHA:269510CID-10 · Q03.1CID-11 · 8D64.1DOENÇA RARA

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.

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Herança
Autosomal recessive
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q03.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025156 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

WDR81WD repeat-containing protein 81Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Early endosome membraneLate endosome membraneLysosome membraneCytoplasmic vesicle, autophagosome membraneMitochondrionCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
CDC42 GTPase cycle
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
32.0 TPM
Cervix Endocervix
31.9 TPM
Útero
31.8 TPM
Baço
30.9 TPM
Cervix Ectocervix
27.1 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (5)
hydrocephalus, congenital, 3, with brain anomaliescerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2congenital communicating hydrocephaluscerebellar ataxia, intellectual disability, and dysequilibrium
HGNC:26600UniProt:Q562E7
CCDC88CProtein DapleDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmCell junction

VIAS BIOLÓGICAS (1)
Negative regulation of TCF-dependent signaling by DVL-interacting proteins
MECANISMO DE DOENÇA

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.

INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (3)
hydrocephalus, nonsyndromic, autosomal recessive 1spinocerebellar ataxia type 40congenital non-communicating hydrocephalus
HGNC:19967UniProt:Q9P219

Variantes genéticas (ClinVar)

388 variantes patogênicas registradas no ClinVar.

🧬 CCDC88C: NM_001080414.4(CCDC88C):c.3967-2A>G ()
🧬 CCDC88C: NM_001080414.4(CCDC88C):c.3541C>T (p.Gln1181Ter) ()
🧬 CCDC88C: NM_001080414.4(CCDC88C):c.5323C>T (p.Gln1775Ter) ()
🧬 CCDC88C: NM_001080414.4(CCDC88C):c.3195+1G>A ()
🧬 CCDC88C: NM_001080414.4(CCDC88C):c.874C>T (p.Gln292Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.

Journal of neurosurgery. Pediatrics2026 Mar 13

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.

#2

Dermal sinus in children: epidemiology, diagnosis, and management of a retrospective cohort.

Journal of neurosurgery. Pediatrics2026 Mar 06

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.

#3

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Neurology2026 Apr 14

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.

#4

The pattern and outcome of infants and neonates undergoing endoscopic third ventriculostomy in Tanzania: an observational cohort study.

Journal of neurosurgery. Pediatrics2026 Feb 27

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.

#5

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

American journal of human genetics2026 Mar 05

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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Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.

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Dermal sinus in children: epidemiology, diagnosis, and management of a retrospective cohort.

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Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

Pediatric blood &amp; cancer
2026

Clinical presentation of hydrocephalus following pre- and postnatal myelomeningocele repair: a Hydrocephalus Clinical Research Network study.

Journal of neurosurgery. Pediatrics
2025

Quantifying the risks: a systematic review and proportional meta-analysis of the perioperative complications of posterior cranial vault distraction osteogenesis in patients with craniosynostosis.

Journal of neurosurgery. Pediatrics
2026

Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.

BMJ case reports
2025

Congenital factor XIII deficiency caused by F13A1 gene mutations presenting with intracranial hemorrhage: a case report.

Frontiers in pediatrics
2026

A congenital infant-type hemispheric glioma case with EML4::ALK fusion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Occipital encephalocele: prognostic factors of psychomotor delay and visual agnosia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Sudden death due to ventriculoperitoneal shunt dysfunction: A case report.

Journal of forensic and legal medicine
2025

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios.

BMC pregnancy and childbirth
2025

Bringing Imaging to the Bedside: The Growing Impact of Point-of-Care Ultrasound in Pediatric and Neonatal Intensive Care.

Cureus
2025

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.

Journal of medical case reports
2025

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatric neurosurgery
2025

Dandy Walker malformation with occipital encephalocele - personal series and updated literature review.

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

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES.

Acta ortopedica brasileira
2025

Outbreak of BVDV-1b associated with persistent infection, reproductive losses, and congenital malformations in beef cattle in Southern Brazil.

Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology]
2025

Severe myelomeningocele in the fourth pregnancy of a 29-year-old woman: a case report.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2026

Prenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.

Neurology
2025

Diagnosis of a Neonate With Long QT Syndrome and Severe Complications Delayed due to an Unrecognized Familial History.

Case reports in pediatrics
2025

Case Report: Congenital neurosyphilis presenting as post-hemorrhagic hydrocephalus in a preterm infant and a review of literature.

Frontiers in pediatrics
2025

Successful Management of a Rare Case of Double Myelomeningocele in an Infant: A Case Report from Pakistan and Brief Review of Pathophysiology.

Asian journal of neurosurgery
2025

Changing Landscape of Hydrocephalus Treatment in Pakistan: A Brief History and Bibliometric Analysis.

Asian journal of neurosurgery
2025

Long-term cognitive outcomes of Chiari II malformation and corpus callosum abnormalities in myelomeningocele.

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

Recurrent Nausea and Hyponatraemia: Unmasking SIADH in a 50-Year-Old Woman.

Case reports in endocrinology
2025

Amelanotic melanoma of the central nervous system with systemic spread - imaging pitfalls and clues in a rare paediatric case with congenital melanocytic naevi.

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

[Giant retrosellar arachnoid cyst: a case report and literature review].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Rapid progression of a posterior fossa arachnoid cyst in a child following minor head trauma: a case report.

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

Long-term outcomes of children born with neural-tube defects in Botswana.

BMC pediatrics
2025

Point-Of-Care Ultrasound in the Assessment of Cerebral Arteriovenous Malformations.

Journal of clinical ultrasound : JCU
2025

Spp1 Appears to Be a Key Gene for Sporadic Obstructive Hydrocephalus in the Absence of AQP4.

International journal of molecular sciences
2025

Double jeopardy in early infancy: aperta lipomyelomeningocele with Chiari II malformation complicated by infantile hypertrophic pyloric stenosis.

BMJ case reports
2025

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency.

Cureus
2025

First reported case of abdominal Nocardia pseudocyst in the setting of a ventriculoperitoneal shunt: a case report and review of literature.

Journal of medical case reports
2025

[Neurocutaneous melanosis in children caused by NRAS gene variation: a clinicopathological and molecular genetic analysis of three cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Myelomeningocele in the Pediatric Neurosurgery Department at Bernard Mevs Hospital in Haiti: A Retrospective Analysis.

Neurosurgery practice
2025

Risk Factors for Ventriculoperitoneal Shunt Infection: A Systematic Review and Meta-Analysis.

Brain sciences
2025

Pediatric Coccidioidal Meningitis: A Systematic Review and Proportional Synthesis of Cases Reported in the Fluconazole Era (2000-2025).

Journal of fungi (Basel, Switzerland)
2025

Factors 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
2025

Endoscopic fenestration of an acquired arachnoid cyst causing a trapped lateral ventricle: Two-dimensional operative video.

Surgical neurology international
2025

Life-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.

Surgical neurology international
2025

Rate and risk factors for shunt revision in pediatric patients with hydrocephalus during a 17-year study period: a retrospective, population-based study.

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

Tension hydrothorax due to delayed and spontaneous supradiaphragmatic and intrathoracic migration of ventriculoperitoneal shunt catheter in pediatric patient: a rare complication with exhaustive literature review.

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

Effect of endoscopic third ventriculostomy on subsequent shunt failure: a Hydrocephalus Clinical Research Network study.

Journal of neurosurgery. Pediatrics
2025

[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. Burdenko
2025

Clinical Approach and Successful Intervention of Congenital Hydrocephalus in Neonatal Calf.

Veterinary medicine and science
2025

Endoscopic third ventriculostomy versus ventriculoperitoneal shunting for hydrocephalus treatment following prenatal and postnatal myelomeningocele repair.

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

Prevalence and Risk Factors of Pediatric Neurosurgical Congenital Anomalies at Mbeya Zonal Referral Hospital, Tanzania.

Birth defects research
2025

Characterizing 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 Neurosurgery
2025

Dental Management of Child with Myelomeningocele Associated with Type II Arnold-Chiari Malformation: Case Report and Review of Literature.

International journal of clinical pediatric dentistry
2026

Cache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.

American journal of veterinary research
2025

A radiological finding suggesting Blake's pouch cyst: A rare pediatric anomaly associated with hydrocephalus - A case report.

Surgical neurology international
2025

Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.

Journal of medical cases
2025

Overview of pediatric hydrocephalus in Nigeria: A systematic review.

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

Endoscopic Third Ventriculostomy in Hydrocephalus Due to Complex Congenital Heart Disease: A Case Report.

Cureus
2025

Exploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.

The Medical journal of Malaysia
2026

Open fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.

Archivos argentinos de pediatria
2025

Congenital Abnormalities.

The Veterinary clinics of North America. Small animal practice
2025

Socioeconomic Disparities in the Presentation, Management, and Outcomes of Cerebrospinal Fluid Diversion Procedures.

World neurosurgery
2025

A Rare Cause of Headache in the Emergency Department: A Case Report.

The Journal of emergency medicine
2025

Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.

Journal of molecular neuroscience : MN
2025

5-year follow up after successful craniopagus separation: Review on hydrocephalus and venous system re-arrangement.

Neuro-Chirurgie
2025

Ventriculoperitoneal Shunt-Associated Cerebrospinal Fluid Pseudocyst Presenting as Abdominal Distension and Pain in an Adult Female Patient: A Case Report.

Cureus
2025

An Overview of Developmental Disorders Leading to Dystocia in Cattle.

Reproduction in domestic animals = Zuchthygiene
2025

The 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 America
2025

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

The Journal of clinical investigation
2025

Adverse events during pregnancy, circulating metabolites, and congenital malformations: a Mendelian randomization study.

BMC pregnancy and childbirth
2025

Rationale for the use of fetal ventriculosubgaleal shunts for the treatment of aqueduct stenosis.

Journal of perinatal medicine
2025

Congenital Malformations of the Central Nervous System Caused by Bluetongue Virus Serotype 3 (BTV-3) in Two Calves.

Veterinary sciences
2025

Barriers to Timely Referral of Children Born with Myelomeningocele in Zambia.

Journal of clinical medicine
2025

Imaging Diagnosis of Hydrocephalus in a Fox Cub-Case Study.

Life (Basel, Switzerland)
2026

Brain Imaging Findings Show Efficacy of Fetal Endoscopic Third Ventriculostomy as Prenatal Treatment for Induced Congenital Hydrocephalus in Fetal Lambs.

Neurosurgery
2025

Diffuse bilateral cerebral calcification caused by Vein of Galen aneurysmal malformation in a two-year-old child: A rare presentation.

Radiology case reports
2025

Surgical interventions for fetal hydrocephalus: systematic review.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.

Clinical case reports
2025

Tessier type 3 facial clefts: A case report and literature review.

International journal of surgery case reports
2025

Cryo-Depleted Plasma Infusions for Ligneous Conjunctivitis.

Case reports in ophthalmology
2025

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

International journal of surgery case reports
2025

When the Unexpected Happens: Diffuse Alveolar Hemorrhage in Negative-Pressure Pulmonary Edema.

Cureus
2026

Quality of life in children with myelomeningocele undergoing intrauterine repair and postnatal surgery.

The journal of spinal cord medicine
2025

Profound Near Fatal Respiratory Dysfunction in a Neonate With Meningomyelocele: A Narrative With Neurosurgical Lessons.

Case reports in pediatrics
2025

Effective endovascular treatment of veins of Galen malformation in a child: A case study.

Radiology case reports
2025

Case Report: Staged epicardial pacemaker implantation in a 740 g ELBW infant with 25 + 2 weeks of GA with congenital complete heart block.

Frontiers in pediatrics
2025

Time 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 therapeutics
2025

CRB2-Related Syndrome in 2 New Patients: Three Novel Variants.

Molecular syndromology
2025

Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management.

Biomedicines
2025

Prenatal intervention in congenital obstructive hydrocephalus: Rationale, eligibility, and techniques.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2025

Tectal gliomas as a rare finding in presumed idiopathic congenital aqueductal stenosis: patient series.

Journal of neurosurgery. Case lessons
2025

Dpcd Induces Hydrocephalus Because of Partial Defects in the Inner Dynein Arms, With Abnormal Ciliary Motility.

Cytoskeleton (Hoboken, N.J.)
2026

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology
2025

Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.

Fetal and pediatric pathology
2025

Schizencephaly in neonates and clinical importance. Cases report.

Boletin medico del Hospital Infantil de Mexico
2025

Congenital toxoplasmosis.

Seminars in pediatric neurology
2025

Foundations of Myelomeningocele Management: History, Embryology, Diagnosis, and Treatment of Myelomeningoceles Through the Sheffield Study.

World neurosurgery
2025

Increased Periventricular Inflammation and Toll-Like Receptor-4 Expression Is Present in Early Congenital Hydrocephalus.

Pediatric neurology
2025

Dandy-Walker malformation associated with massive occipital encephalocele: A case report.

International journal of surgery case reports
2025

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

BMJ case reports
2025

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

Molecular syndromology
2025

Treatment with Plasma Transfusion and Plasma-Derived Human Plasminogen in a Newborn with Plasminogen Deficiency and Recurrent Hydrocephalus: A Case Report.

Neonatology
2025

The Hydrocephalus Association Patient-Powered Interactive Engagement Registry (HAPPIER): Design and Initial Baseline Report.

Clinical epidemiology
2025

Neural stem cell changes and spatial distribution of AQP4 expression in a fetal goat model of obstructive hydrocephalus.

IBRO neuroscience reports
2025

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Genes
2025

A 3D SVZonChip Model for In Vitro Mimicry of the Subventricular Zone Neural Stem Cell Niche.

Bioengineering (Basel, Switzerland)
2025

Unveiling the Possibility of Subclinically Present Congenital Hydrocephalus Triggered by Thalamic Hemorrhage in Late-onset Years: A Case Report.

NMC case report journal
2025

Quantification of Zika virus using a colloidal gold nanoparticle-based immunosensor and Fourier-transform infrared spectroscopy.

Journal of virological methods
2025

Cytomegalovirus (CMV) Infection in Pregnancy Resulting in Neonatal Mortality Due to Congenital CMV: A Case Report.

Cureus
2025

Surgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.

Cureus
2025

De 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
2025

'VACTERL-H in newborn: A rare case report'.

Journal of neonatal-perinatal medicine
2025

Rehabilitation in a child with Chiari II malformation, lumbosacral meningomyelocele, achondroplasia and impaired respiratory regulation - a case report and literature review.

Journal of pediatric rehabilitation medicine
2025

Two Cerebrospinal Fluid (CSF) Diversion Procedures for Two Separate CSF Pathologies in a 19-Year-Old Male: A Case Report.

Cureus
2025

Surgical outcomes of ventriculoperitoneal shunts in the Gaza Strip: Insights from a conflict zone and low-resource setting.

Neuro-Chirurgie
2025

A Case Report of an Adverse Outcome: Development of a Dural Arteriovenous Fistula Following Foramen Magnum Decompression for Chiari Malformation.

Cureus
2025

Radiographic Evaluation of Normal Pressure Hydrocephalus.

Continuum (Minneapolis, Minn.)
2025

Case Report: Hypodipsic hypernatremia secondary to hydrocephalus in a dog.

Frontiers in veterinary science
2025

Risk factors for neural tube defects in the war and siege-affected tigray regional state of ethiopia: a case-control study.

BMC pregnancy and childbirth
2025

Radionuclide Shunt Scintigraphy Technique in Diagnosing Ventriculoperitoneal Shunt Malfunction and Patency: A Case Study and Review of Literature.

Cureus
2025

Spinal 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 Medicine
2026

Transarterial embolization for infants under 3 months of age with refractory seizures due to hemimegalencephaly: complication analysis and evolution of treatment strategy.

Journal of neurointerventional surgery
2025

Unraveling Dandy-Walker Syndrome: A Case Report with Clinical Presentations and Management Insights.

International journal of clinical pediatric dentistry
2024

Congenital Disseminated Pyogenic Granuloma: A Case With Numerous Mucocutaneous and Visceral Lesions.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2025

Machine learning-based assessment of seizure risk predictors in myelomeningocele patients: A single-center retrospective cohort study.

Qatar medical journal
2025

Investigating the types of microorganisms causing cerebrospinal fluid shunt infection in King Abdullah University Hospital in Jordan.

Qatar medical journal
2025

Dual 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 A
2025

In-utero Therapy for Fetal Aqueductal Stenosis.

Clinical obstetrics and gynecology
2025

Upper thoracic spinal schwannoma leading to intracranial hypertension and hydrocephalus: A case report and literature review.

Medicine
2025

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.

Movement disorders : official journal of the Movement Disorder Society
2025

A 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 Neurosurgery
2025

Human tripartite motif-containing protein 71 NCL-1/HT2A/LIN-41 domain crystal structure and its potential natural inhibitors.

International journal of biological macromolecules
2025

Dandy-Walker malformation associated with hydrocephalus in a 15-month-old child: A case report with literature review.

International journal of surgery case reports
2025

Amniotic Membrane Interposition Graft for Open Fetal Myelomeningocele Repair.

Operative neurosurgery (Hagerstown, Md.)
2025

Diencephalic-mesencephalic junction dysplasia: case report and literature review.

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

Risk factors and influence on neurodevelopmental outcomes of neonatal seizures in very low birth weight infants based on nationwide cohort.

Scientific reports
2025

Unraveling Dandy-Walker Malformation: A Comprehensive Literature Review and Case Insight.

Clinical case reports
2025

Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate.

Radiology case reports
2025

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Annals of medicine and surgery (2012)
2025

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 medicine
2025

Longitudinal Hammersmith Infant Neurological Examination (HINE) Trajectories in Children with Cerebral Palsy Identified in High-Risk Follow-Up.

Journal of clinical medicine
2025

Validation 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 Australasia
2025

Case Report: Ultralow-field portable MRI improves the diagnosis of congenital hydrocephalus.

Frontiers in pediatrics
2025

Childhood disabilities, household poverty, and inequality: A population-based case-control study in rural Bangladesh.

Developmental medicine and child neurology
2025

The Neuropsychology of Adult Hydrocephalus.

Neurosurgery clinics of North America
2025

Adult Hydrocephalus Clinical Subtypes.

Neurosurgery clinics of North America
2025

A case of meningitis treated with intraventricular vancomycin in an infant.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2025

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Proceedings of the National Academy of Sciences of the United States of America
2026

Electroconvulsive therapy for depression in a patient with a programmable ventriculoperitoneal shunt in situ for congenital hydrocephalus.

British journal of neurosurgery
2025

Implementation of in utero laparotomy-assisted fetoscopic spina bifida repair in two centers in Latin America: rationale for this approach in this region.

AJOG global reports
2024

Hydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.

Malawi medical journal : the journal of Medical Association of Malawi
2025

Ventriculo-pleural shunt --- A second line option in the management of complex hydrocephalus.

The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
2025

Neurogenesis and glial impairments in congenital hydrocephalus: insights from a BioGlue-induced fetal lamb model.

Fluids and barriers of the CNS
2025

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

Nature neuroscience
2025

Transient pharmacological inhibition of SUMOylation during pregnancy induces craniofacial malformations in offspring mice.

European journal of cell biology
2025

Management and Outcomes in Isolated Congenital Aqueductal Stenosis: A Single-Center Retrospective Cohort Study.

Prenatal diagnosis
2025

Allosteric inhibition rescues hydrocephalus caused by catalytically inactive Shp2.

bioRxiv : the preprint server for biology
2025

Infective Endocarditis as a Complication of a Ventriculoatrial Shunt.

JACC. Case reports
2024

Congenital alopecia with multiple nodules over face in an infant.

BMJ case reports
2025

Spinal 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 Neurosurgery
2025

Pediatric Chiari Malformation Management: WFNS Spine Committee Recommendations.

Spine
2025

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Molecular syndromology
2025

Advancing Hydrocephalus Management: Pathogenesis Insights, Therapeutic Innovations, and Emerging Challenges.

Aging and disease
2025

Using Artificial Intelligence to Identify Three Presenting Phenotypes of Chiari Type-1 Malformation and Syringomyelia.

Neurosurgery
2025

Canadian Association of Radiologists Central Nervous System Diagnostic Imaging Referral Guideline.

Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
2025

Success Rate of Endoscopic Third Ventriculostomy in Children Younger Than 1 Year With Idiopathic Congenital Aqueductal Stenosis and Long-term Follow-up.

Journal of child neurology
2025

Neonatal Abandonment and Hydrocephalus in Antillean Manatees (Trichechus manatus manatus): Is There a Causal Relationship?

Animals : an open access journal from MDPI
2025

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Diagnostics (Basel, Switzerland)
2025

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Journal of community genetics
2025

Late Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report.

Journal of neurological surgery reports
2025

Risk Factors for 30-Day Postoperative Infection in Pediatric Ventricular Shunts for Hydrocephalus.

World neurosurgery
2025

Medical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly.

Fetal diagnosis and therapy
2024

Hydranencephaly in a Newborn: A Case Report and a Review of the Literature.

Cureus
2024

A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.

Genes

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Hidrocefalia não-comunicante congênita.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Hidrocefalia não-comunicante congênita

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Myelomeningocele versus myeloschisis: comparison of brain development and need for CSF diversion.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41825066mais citado
  2. Dermal sinus in children: epidemiology, diagnosis, and management of a retrospective cohort.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41791107mais citado
  3. Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.
    Neurology· 2026· PMID 41791021mais citado
  4. The pattern and outcome of infants and neonates undergoing endoscopic third ventriculostomy in Tanzania: an observational cohort study.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41759095mais citado
  5. Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
    American journal of human genetics· 2026· PMID 41720098mais citado
  6. Survival outcomes and risk factors for ventriculo-peritoneal shunt failure in pediatric hydrocephalus: a multi-center cohort study in Vietnam.
    Childs Nerv Syst· 2026· PMID 41699343recente
  7. 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.
    Childs Nerv Syst· 2026· PMID 41670774recente
  8. Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
    BMJ Case Rep· 2026· PMID 41554615recente
  9. 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.
    J Med Case Rep· 2025· PMID 41444928recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:269510(Orphanet)
  2. MONDO:0017117(MONDO)
  3. GARD:17272(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Hidrocefalia não-comunicante congênita
Compêndio · Raras BR

Hidrocefalia não-comunicante congênita

ORPHA:269510 · MONDO:0017117
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
Q03.1 · Atresia das fendas de Luschka e do forâmen de Magendie
CID-11
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4546092
Wikidata
DiscussaoAtiva

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