Raras
Buscar doenças, sintomas, genes...
Hidrocefalia congênita
ORPHA:2185CID-10 · Q03.1CID-11 · LA04DOENÇA RARA

Hidrocefalia presente ao nascimento.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Hidrocefalia presente ao nascimento.

Pesquisas ativas
1 ensaio
2 total registrados no ClinicalTrials.gov
Publicações científicas
1.140 artigos
Último publicado: 2026 Apr 15

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
Início
Antenatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +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
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
14 sintomas
👁️
Olhos
8 sintomas
❤️
Coração
4 sintomas
😀
Face
4 sintomas
🦴
Ossos e articulações
3 sintomas
👂
Ouvidos
2 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

90%prev.
Hidrocefalia
Muito frequente (99-80%)
55%prev.
Bossas frontais
Frequente (79-30%)
55%prev.
Convulsão
Frequente (79-30%)
55%prev.
Orelhas com rotação posterior
Frequente (79-30%)
55%prev.
Assimetria facial
Frequente (79-30%)
55%prev.
Ventriculomegalia
Frequente (79-30%)
55sintomas
Muito frequente (1)
Frequente (15)
Muito raro (5)
Sem dados (34)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.

HidrocefaliaHydrocephalus
Muito frequente (99-80%)90%
Bossas frontaisFrontal bossing
Frequente (79-30%)55%
ConvulsãoSeizure
Frequente (79-30%)55%
Orelhas com rotação posteriorPosteriorly rotated ears
Frequente (79-30%)55%
Assimetria facialFacial asymmetry
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.140PubMed
Últimos 10 anos200publicações
Pico202354 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

5 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

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
TRIM71E3 ubiquitin-protein ligase TRIM71Candidate gene tested inAltamente restrito
FUNÇÃO

E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism (PubMed:23125361). Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by r

LOCALIZAÇÃO

Cytoplasm, P-body

VIAS BIOLÓGICAS (1)
Antigen processing: Ubiquitination & Proteasome degradation
MECANISMO DE DOENÇA

Hydrocephalus, congenital, 4

An autosomal dominant form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the absence of obstruction to cerebrospinal fluid flow between the ventricles (communicating hydrocephalus). Affected individuals have neurodevelopmental delay and epilepsy.

EXPRESSÃO TECIDUAL(Tecido-específico)
Testículo
9.3 TPM
Brain Nucleus accumbens basal ganglia
1.0 TPM
Pulmão
0.9 TPM
Rim - Córtex
0.6 TPM
Brain Caudate basal ganglia
0.6 TPM
OUTRAS DOENÇAS (2)
hydrocephalus, congenital communicating, 1congenital communicating hydrocephalus
HGNC:32669UniProt:Q2Q1W2
L1CAMNeural cell adhesion molecule L1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity

LOCALIZAÇÃO

Cell membraneCell projection, growth coneCell projection, axonCell projection, dendrite

VIAS BIOLÓGICAS (5)
Basigin interactionsRecycling pathway of L1L1CAM interactionsSignal transduction by L1Interaction between L1 and Ankyrins
MECANISMO DE DOENÇA

Hydrocephalus, congenital, X-linked

An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
258.9 TPM
Cérebro - Hemisfério cerebelar
236.4 TPM
Nervo tibial
112.8 TPM
Córtex cerebral
69.3 TPM
Brain Frontal Cortex BA9
67.7 TPM
OUTRAS DOENÇAS (4)
MASA syndromeX-linked complicated corpus callosum dysgenesisX-linked hydrocephalus with stenosis of the aqueduct of SylviusX-linked complicated spastic paraplegia type 1
HGNC:6470UniProt:P32004
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
MPDZMultiple PDZ domain proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity)

LOCALIZAÇÃO

Cell membraneApical cell membranePostsynaptic densityCell projection, dendriteCell junction, tight junctionSynapseSynapse, synaptosome

MECANISMO DE DOENÇA

Hydrocephalus, congenital, 2, with or without brain or eye anomalies

A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
48.9 TPM
Aorta
41.1 TPM
Nervo tibial
38.3 TPM
Útero
38.1 TPM
Fallopian Tube
37.6 TPM
OUTRAS DOENÇAS (2)
hydrocephalus, nonsyndromic, autosomal recessive 2congenital communicating hydrocephalus
HGNC:7208UniProt:O75970

Variantes genéticas (ClinVar)

844 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

Classificação de variantes (ClinVar)

Distribuição de 19 variantes classificadas pelo ClinVar.

13
6
Patogênica (68.4%)
VUS (31.6%)
VARIANTES MAIS SIGNIFICATIVAS
SMARCC1: NM_003074.4(SMARCC1):c.1676T>A (p.Leu559Ter) [Likely pathogenic]
SGCD: NC_000005.9:g.155599390_155755985dup [Likely pathogenic]
NC_000005.9:g.154735732_155604899dup [Likely pathogenic]
LOC100507346: NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) [Pathogenic]
PTCH1: NM_000264.5(PTCH1):c.456_457del (p.Met152fs) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hidrocefalia congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Hidrocefalia congênita

Centros para Hidrocefalia congênita

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

2 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
425 papers (10 anos)
#1

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.

#2

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.

#3

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

Neurology2026 Jan 13

Valproate has a well-documented teratogenic risk, whereas lamotrigine and levetiracetam seem relatively safe. However, evidence for other antiseizure medications (ASMs) and specific congenital anomalies remains limited and inconsistent. We aimed to assess the risk of overall and specific congenital anomalies associated with prenatal exposure to individual ASMs. We conducted a retrospective cohort study using the Korean National Health Insurance Service mother-child linkage database from 2013 to 2021. Pregnant women aged 20-45 years with live births were included. Exposure was defined as the prescription of any ASM during the first trimester. The primary outcome was congenital anomalies in offspring identified by diagnostic codes within 1 year of birth. We estimated the odds ratios (ORs) for overall congenital anomalies, organ system anomalies, and specific congenital anomalies associated with prenatal exposure to ASMs compared with those in the unexposed group. Propensity score fine stratification was used to adjust for potential confounders. Among 2,494,958 pregnancies, 5,880 (0.24%) were exposed to ASMs during the first trimester. The mean maternal age at delivery was 32.9 years in the exposed group and 32.4 years in the unexposed group. ASM exposure was associated with an increased risk of overall congenital anomalies (OR 1.26, 95% CI 1.11-1.43). Among monotherapies, valproate had the highest risk (OR 1.46, 95% CI 1.11-1.91), showing a dose-dependent relationship (OR 1.57, 95% CI 1.12-2.19 at ≥500 mg/d). Polytherapy, including valproate, had a higher risk (OR 2.06, 95% CI 1.32-3.20), whereas polytherapy without valproate was not significantly associated with an increased risk (OR 1.26, 95% CI 0.92-1.71). Specific congenital anomalies associated with individual ASMs included congenital hydrocephalus (carbamazepine), atrial septal defects (oxcarbazepine), cleft palate (valproate), hypospadias (levetiracetam), and tetralogy of Fallot and talipes equinovarus (topiramate). This study revealed that prenatal exposure to valproate increased the risk of congenital anomalies. Although other ASMs, even in polytherapy, did not significantly increase the overall risk of congenital anomalies, carbamazepine, levetiracetam, oxcarbazepine, and topiramate were associated with specific types of congenital anomalies. Given the limited number of cases, these findings warrant further investigation in other populations. This study provides Class III evidence that prenatal exposure to valproic acid increases the risk of overall congenital anomalies while other ASMs, including carbamazepine, levetiracetam, oxcarbazepine, and topiramate, do not increase the risk of overall congenital anomalies.

#4

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

Journal of child neurology2026 Feb

Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.

#5

Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.

World neurosurgery2026 Mar 20

Congenital hydrocephalus (CH) represents a significant cause of pediatric morbidity. This study characterizes the clinical presentation, epidemiology, and long-term neurodevelopmental outcomes of children with CH, with emphasis on the role of prenatal diagnosis. Retrospective analysis of 102 children with CH who underwent neurosurgical intervention at the Department of Neurosurgery, Habib Bourguiba Hospital, Sfax, Tunisia, over 15 years. Data regarding demographics, clinical presentation, etiology, surgical outcomes, and long-term neurodevelopmental outcomes were systematically analyzed. Estimated incidence was 0.1 per 1,000 live births, with median age at presentation of 7 months (male predominance, sex ratio 1.4:1). Familial history was documented in 8% of cases. Presenting features included increased head circumference (89%) and bulging fontanelle (70%). Hydrocephalus was associated with myelomeningocele in 38 cases (20% prenatally detected), with spina bifida representing the most common etiology (40%). Postoperative complications occurred in 43% of cases. Long-term follow-up (1 month to 16 years; median: 4 years) of 55 patients demonstrated that 32 (58%) attended mainstream school. Among 27 patients with sphincter dysfunction, 23 (85%) had concurrent myelomeningocele. Normal speech development occurred in 39%, while 15 patients (15%) exhibited paraplegia and 22 (22%) developed seizure disorder. Congenital hydrocephalus management requires multidisciplinary approach. These findings provide epidemiological data to inform prenatal diagnosis and prognostication strategies in resource-limited settings.

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Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.

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Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
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Molecular syndromology
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Best practice &amp; research. Clinical obstetrics &amp; gynaecology
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Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology
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Bioengineering (Basel, Switzerland)
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NMC case report journal
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Cureus
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Frontiers in veterinary science
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Cureus
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Clinical obstetrics and gynecology
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Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.

Movement disorders : official journal of the Movement Disorder Society
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Human tripartite motif-containing protein 71 NCL-1/HT2A/LIN-41 domain crystal structure and its potential natural inhibitors.

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

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

Frontiers in pediatrics
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The Neuropsychology of Adult Hydrocephalus.

Neurosurgery clinics of North America
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Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2026

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

British journal of neurosurgery
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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
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Fluids and barriers of the CNS
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Nature neuroscience
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Infective Endocarditis as a Complication of a Ventriculoatrial Shunt.

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

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

Animals : an open access journal from MDPI
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Risk Factors for 30-Day Postoperative Infection in Pediatric Ventricular Shunts for Hydrocephalus.

World neurosurgery
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Medical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly.

Fetal diagnosis and therapy
2025

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.

Brain : a journal of neurology
2024

"Dangling choroid" with contralateral glomus displacement and ischemic torsion in congenital hydrocephalus: illustrative case.

Journal of neurosurgery. Case lessons
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Loss of Dnah5 Downregulates Dync1h1 Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus.

Cells
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Atypical delayed ventriculoperitoneal shunt infection following hysteroscopic polypectomy: illustrative case.

Journal of neurosurgery. Case lessons
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Unilateral Exophthalmos as the First Sign of Chronic Obstructive Hydrocephalus in a Pediatric Patient: A Case Report.

Cureus
2025

Armored brain as a late complication of CSF overshunting: A rare case report.

Radiology case reports
2024

WALANT technique for acute compartment syndrome of the arm in a COVID-19 patient: A case report.

International journal of surgery case reports
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Zebrafish as a Model Organism for Congenital Hydrocephalus: Characteristics and Insights.

Zebrafish
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The Ventriculoperitoneal Shunt Complication Rate in Baghdad Medical City from 2019 to 2022.

World neurosurgery
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The economic burden of ventriculoperitoneal shunt insertion and its complications: findings from a cohort in the Philippines.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Utility of cell index in the diagnosis of healthcare-associated ventriculitis and meningitis: an analytical cross-sectional study.

BMC infectious diseases
2025

RGS22 maintains the physiological function of ependymal cells to prevent hydrocephalus.

Science China. Life sciences
2024

The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling.

bioRxiv : the preprint server for biology
2024

Revision and Infection Rate in 728 Shunt-Treated Adult Hydrocephalus Patients-a Single-Center Retrospective Study.

World neurosurgery
2025

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Clinical genetics
2024

The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review.

Prenatal diagnosis
2024

Cerebellar Haemorrhage After Corrective Surgery for Scoliosis in a Girl with Arrested Hydrocephalus.

Annals of Indian Academy of Neurology
2025

Research status of fetal hydrocephalus from 2003 to 2022 based on bibliometric analysis.

Ibrain
2024

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

Military Medical Research
2024

Absence of Aquaporin-4 (AQP4) Prolongs the Presence of a CD11c+ Microglial Population during Postnatal Corpus Callosum Development.

International journal of molecular sciences
2024

Peripheral white blood cell patterns in children with hydrocephalus as a response to ventriculo-peritoneal shunt infection.

PloS one
2024

Molecular signatures of normal pressure hydrocephalus: a large-scale proteomic analysis of cerebrospinal fluid.

Fluids and barriers of the CNS
2024

Mature congenital intraventricular intracranial teratoma: A case report and literature review.

Surgical neurology international
2024

Congenital hydrocephalus and ligneous conjunctivitis in two children with severe type I plasminogen deficiency: A case report and literature review.

SAGE open medical case reports
2025

Ultrasound Guidance to Replicate Transuterine BioGlue Injection in the Fetal Hydrocephalus Sheep Model.

Fetal diagnosis and therapy
2024

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.

Cell reports. Medicine
2024

Pediatric shunt failure in a resource limited Lower-Middle Income Country (LMIC) institution in La Paz, Bolivia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Impact of aquaporin-4 and CD11c + microglia in the development of ependymal cells in the aqueduct: inferences to hydrocephalus.

Fluids and barriers of the CNS
2024

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Proceedings of the National Academy of Sciences of the United States of America
2024

Quality of life and functional vision in adolescents with surgically treated hydrocephalus in infancy.

Acta paediatrica (Oslo, Norway : 1992)
2024

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Brain : a journal of neurology
2024

Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart.

Prenatal diagnosis
2024

Biomechanical instability of the brain-CSF interface in hydrocephalus.

Brain : a journal of neurology
2024

Paediatric hydrocephalus.

Nature reviews. Disease primers
2024

Atresia of the Aqueduct of Sylvius as a cause of congenital hydrocephalus.

Radiology case reports
2024

Prospects of CSF shunt independence among chronically shunted patients.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

[Correlations of Birth Defects With Birth Weight and Gestational Age].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2024

The Utilization of Computed Tomography in the Pediatric Emergency Department for Patients With Ventriculoperitoneal Shunts.

Cureus
2024

Successful treatment of penicillin-resistant pneumococcal meningitis following ventriculo-peritoneal shunt for congenital hydrocephalus: A case report on the efficacy of linezolid.

Asian journal of surgery
2024

Proteomic Profiling of Cerebrospinal Fluid and Its Extracellular Vesicles from Extraventricular Drainage in Pediatric Pilocytic Astrocytoma, towards Precision Oncology.

Cancers
2024

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

Prenatal diagnosis
2024

Molecular Signatures of Normal Pressure Hydrocephalus: A Largescale Proteomic Analysis of Cerebrospinal Fluid.

bioRxiv : the preprint server for biology
2024

A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis.

Frontiers in cellular neuroscience
2024

An Infant-Type Hemispheric Glioma With SOX5::ALK: A Novel Fusion.

Journal of the National Comprehensive Cancer Network : JNCCN
2024

An Atypical Presentation of Pancreatitis Secondary to a Ventriculoperitoneal Shunt.

Cureus
2024

A Review of Cerebrospinal Fluid Circulation and the Pathogenesis of Congenital Hydrocephalus.

Neurochemical research
2023

Delays in care for hydrocephalus and spina bifida at a tertiary hospital in Somaliland.

World journal of pediatric surgery
2024

Bowel perforation and anal ventriculoperitoneal shunt migration: A systematic review.

Journal of Taibah University Medical Sciences
2023

Migration of the distal ventriculoperitoneal shunt catheter into the stomach with or without trans-oral extrusion: A systematic literature review and meta-analysis.

World journal of clinical pediatrics
2024

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.

Clinical genetics
2024

"Various factors affecting the success of the ETV procedure in infants"-an insight via a prospective study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study.

Biomolecules
2024

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Brain : a journal of neurology
2024

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.

Birth defects research
2023

Closed-Loop Bowel Obstruction Induced by Ventriculoperitoneal Shunt Catheter Coiling at the Sigmoid Colon: A Case Report.

Cureus
2024

Molecular mechanism governing RNA-binding property of mammalian TRIM71 protein.

Science bulletin
2023

Implications of Exome Sequencing for Patients With Congenital Hydrocephalus.

JAMA network open
2023

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.

JAMA network open
2024

The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.

Cerebral cortex (New York, N.Y. : 1991)
2024

Congenital Pediatric Hydrocephalus in the Brazilian Public Health System: The Reality of a Middle-Income Country in the Past 13 Years.

World neurosurgery
2023

Surgery of Cranial Deformity Following Ventricular Shunting: A Multicenter Study.

Turkish neurosurgery
2023

Cerebrospinal fluid as vaginal discharge: ventriculoperitoneal shunt migration following Cesarean section.

Minerva obstetrics and gynecology
2023

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.

Molecular syndromology
2023

Programmable Versus Differential Pressure Ventriculoperitoneal Shunts for Pediatric Hydrocephalus: A 20-Year Single-Center Experience From Saudi Arabia.

Cureus
2023

Abdominal pseudocyst complicating ventriculoperitoneal shunt: A rare indication for ventriculopleural shunt conversion.

Clinical case reports
2023

Combined medical and surgical approach in the management of ligneous conjunctivitis in a pediatric patient: A case report.

International journal of surgery case reports
2023

Rapidly Deteriorating Degenerative Cervical Myelopathy Following Ventricular Shunt Revision for Hydrocephalus: Case Report.

Interactive journal of medical research
2023

SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.

Prenatal diagnosis
2023

Effect of tolvaptan on hyponatremia in a dog with syndrome of inappropriate secretion of antidiuretic hormone.

The Journal of veterinary medical science
2023

Right Transcephalic Ventriculo-Subclavian Shunt in the Surgical Treatment of Hydrocephalus-An Original Procedure for Drainage of Cerebrospinal Fluid into the Venous System.

Journal of clinical medicine
2024

Smartphone-based thermography to determine shunt patency in patients with hydrocephalus.

Acta neurologica Belgica
2023

Severe hyperglycorrhachia and status epilepticus after endoscopic aqueductoplasty: illustrative case.

Journal of neurosurgery. Case lessons
2023

A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscope.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Convergence of multiple RNA-silencing pathways on GW182/TNRC6.

Molecular cell
2023

Proteomic Analyses Reveal Functional Pathways and Potential Targets in Pediatric Hydrocephalus.

Current gene therapy
2023

Cerebrospinal fluid liver pseudocyst: A bizarre long-term complication of ventriculoperitoneal shunt: A case report.

World journal of hepatology
2023

"Floppy brain" in congenital hydrocephalus.

Cerebral cortex (New York, N.Y. : 1991)
2023

Disrupted neurogenesis, gliogenesis, and ependymogenesis in the Ccdc85c knockout rat for hydrocephalus model.

Cells &amp; development
2023

Endoscopic Third Ventriculostomy in a 12-Year-Old With Recurrent Failure of Ventriculoperitoneal Shunts.

Cureus
2023

X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.

Experimental neurology
2023

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2023

Adherens, tight, and gap junctions in ependymal cells: A systematic review of their contribution to CSF-brain barrier.

Frontiers in neurology
2023

Intracranial migration of a ventriculoperitoneal shunt: A case report and literature review.

Surgical neurology international
2023

Role of Ommaya Reservoir in Pediatric Hydrocephalus: Experience in Bangladesh Medical College Hospital from 2019-2021.

Mymensingh medical journal : MMJ
2023

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.

medRxiv : the preprint server for health sciences
2023

Generation of Periventricular Reactive Astrocytes Overexpressing Aquaporin 4 Is Stimulated by Mesenchymal Stem Cell Therapy.

International journal of molecular sciences
2023

EEG Correlates of Spikes in Intracranial Pressure Caused by Transient Ventriculoperitoneal Shunt Malfunction.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2023

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

Human genomics
2023

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Acta neuropathologica communications
2023

Congenital hydrocephalus diagnosed in a nonagenarian: Case report.

The neuroradiology journal
2023

Risk factors of congenital hydrocephalus: a case-control study in a lower-middle-income country (Egypt).

Journal of neurosurgery. Pediatrics
2023

Acquired hump of the corpus callosum: a rare morphologic complication after CSF shunting.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Fatal complication caused by laxative suppository agent on pediatric patient with hydrocephalus on ventriculo-peritoneal shunt: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.

PLoS biology
2023

Different congenital hydrocephalus-associated mutations in Trim71 impair stem cell differentiation via distinct gain-of-function mechanisms.

PLoS biology
2023

Technique for the Management of Extensive Ocular Surface Lipodermoid Involving the Cornea of Children.

Cornea
2023

Detection of Malpositioned VP Shunt Catheter by Radionuclide CSF Cisternography.

Clinical nuclear medicine
2022

Upward spontaneous migration of ventriculoperitoneal shunt into the heart: A case report summary.

Journal of cardiovascular and thoracic research
2023

The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.

Brain communications
2024

Is It Possible to Eliminate Postoperative Shunt Infections?: Results of a Modified Hydrocephalus Clinical Research Network Protocol.

Journal of neurological surgery. Part A, Central European neurosurgery
2022

Delayed-onset ligneous conjunctivitis as a rare association with congenital hydrocephalous: a case report and review of the literature.

Digital journal of ophthalmology : DJO
2023

The effect of shunt removal on the quality of life in patients with congenital hydrocephalus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Cerebral spinal fluid overdrainage from shunt tap using large bore coring needle: A case report.

Surgical neurology international
2023

Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.

Ophthalmic genetics
2023

A congenital hydrocephalus-causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation.

EMBO reports
2023

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

Human genetics
2022

Early Regressive Development of the Subcommissural Organ of Two Human Fetuses with Non-Communicating Hydrocephalus.

Children (Basel, Switzerland)
2023

Epidemiology of hydrocephalus in Brazil.

Jornal de pediatria
2022

[Multiple Correspondence of Abnormal Birth History with Genetic and Environmental Risk Factors].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2022

Left Ventricular Non-compaction in a 40-Year-Old Male With Congenital Hydrocephalus.

Cureus
2022

Successful conservative management of a large acute epidural hematoma in a patient with arrested hydrocephalus: A case report.

Surgical neurology international
2023

A girl with membranous nephropathy associated with ventriculoperitoneal shunt infection.

CEN case reports
2023

In vitro and in vivo assessment of a novel ultra-flexible ventriculoamniotic shunt for treating fetal hydrocephalus.

Journal of biomaterials applications
2022

Ultrasound Appearance of Fetal Posterior Fossa and a Case Report of Prenatal Diagnosis of Dandy-Walker Malformation.

Maedica
2023

A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family.

Genes &amp; genomics
2022

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Medicine
2022

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.

The journal of obstetrics and gynaecology research
2023

Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".

Cerebral cortex (New York, N.Y. : 1991)
2022

Ptpn20 deletion in H-Tx rats enhances phosphorylation of the NKCC1 cotransporter in the choroid plexus: an evidence of genetic risk for hydrocephalus in an experimental study.

Fluids and barriers of the CNS
2022

The subcommissural organ maintains features of neuroepithelial cells in the adult mouse.

Journal of anatomy
2022

Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000-2014 multi-country registry-based study.

Birth defects research
2022

Congenital hydrocephalus in a trisomy 9p gained child: a case report.

Journal of medical case reports
2022

Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis.

Taiwanese journal of obstetrics &amp; gynecology
2022

Congenital Hydrocephalus and Associated Risk Factors: An Institution-Based Case-Control Study, Dessie Town, North East Ethiopia.

Pediatric health, medicine and therapeutics
2022

An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.

British journal of neurosurgery
2022

The role of cilia for hydrocephalus formation.

American journal of medical genetics. Part C, Seminars in medical genetics
2022

Pulmonary arterial hypertension due to ventriculoatrial shunts: A case report and literature review.

Neuro-Chirurgie
2022

[Epidemiology of Idiopathic Normal Pressure Hydrocephalus and Hereditary Hydrocephalus].

No shinkei geka. Neurological surgery
2022

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.

Nature neuroscience
2022

The Role of Early Postoperative Intracranial Pressure Monitoring in Predicting the Outcome of Endoscopic Third Ventriculostomy Performed in Infants With Congenital Hydrocephalus: A Prospective Analysis.

Cureus
2022

Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing.

Disease markers
2022

Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.

The journal of gene medicine
2022

Navigating the ventricles: Novel insights into the pathogenesis of hydrocephalus.

EBioMedicine
2023

Corneal Perforation associated with "Silent Brain Syndrome".

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Complications Encountered with ETV in Infants with Congenital Hydrocephalus.

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2021

Fetal Ventriculomegaly and Hydrocephalus - What Shouldn't be Missed on Imaging?

Neurology India
2022

Hospital incidence and costs of congenital hydrocephalus in Spain: a multicenter retrospective study.

Expert review of pharmacoeconomics &amp; outcomes research
2021

Evaluation of Pediatric Hydrocephalus: Clinical, Surgical, and Outcome Perspective in a Tertiary Center.

Asian journal of neurosurgery
2022

Frequency of success and complications of primary endoscopic third ventriculostomy in infants with obstructive hydrocephalous.

Pakistan journal of medical sciences
2022

Congenital hydrocephalus in three sheep: Clinical, electroencephalographic and pathological features.

Veterinarni medicina
2021

Early Anal Protrusion of Distal Ventriculoperitoneal Catheter Due to Iatrogenic Colonic Perforation: A Case Report and Review of Literature.

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2022

Positron Emission Tomography Scan: A Good Way to Untie the Gordian Knot of Infection in Case of Multiple Ventriculoperitoneal Shunts.

World neurosurgery
2022

Brain ventricles as windows into brain development and disease.

Neuron
2021

Refractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus.

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Ver todos os 470 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Hidrocefalia congênita

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. 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
  2. Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
    American journal of human genetics· 2026· PMID 41720098mais citado
  3. Prenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.
    Neurology· 2026· PMID 41370743mais citado
  4. Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
    Journal of child neurology· 2026· PMID 40717626mais citado
  5. Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.
    World neurosurgery· 2026· PMID 41865987mais citado
  6. Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.
    Childs Nerv Syst· 2026· PMID 41986703recente
  7. Individualized treatment strategies and long-term prognosis of congenital hydrocephalus: an integrated analysis based on multicenter retrospective data and machine learning.
    Childs Nerv Syst· 2026· PMID 41925876recente
  8. Congenital Chylous Ascites in a Neonate with Isolated Aqueductal Stenosis: A Case Report and Literature Review.
    Reports (MDPI)· 2026· PMID 41893447recente
  9. A RARE CASE OF DISCORDANT ANOMALY IN A DICHORIONIC DIAMNIOTIC TWIN PREGNANCY: TESSIER CLEFT WITH SEVERE HYDROCEPHALUS IN A LOW RESOURCE SETTING.
    Ann Ib Postgrad Med· 2025· PMID 41878075recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2185(Orphanet)
  2. MONDO:0016349(MONDO)
  3. GARD:6682(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55345956(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hidrocefalia congênita
Compêndio · Raras BR

Hidrocefalia congênita

ORPHA:2185 · MONDO:0016349
Prevalência
Unknown
Herança
Not applicable
CID-10
Q03.1 · Atresia das fendas de Luschka e do forâmen de Magendie
CID-11
Ensaios
1 ativos
Início
Antenatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0020256
EuropePMC
Wikidata
Papers 10a
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