Doença cerebral congênita rara em que os hemisférios cerebrais estão ausentes e são substituídos por bolsas que contêm líquido cefalorraquidiano. Os sinais e sintomas incluem irritabilidade, aumento do tônus muscular, convulsões e hidrocefalia. O prognóstico é ruim.
Introdução
O que você precisa saber de cara
Doença cerebral congênita rara em que os hemisférios cerebrais estão ausentes e são substituídos por bolsas que contêm líquido cefalorraquidiano. Os sinais e sintomas incluem irritabilidade, aumento do tônus muscular, convulsões e hidrocefalia. O prognóstico é ruim.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive, Unknown.
Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the
Cytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeChromosome, centromere, kinetochoreCytoplasm, cytoskeleton, spindleCleavage furrowCytoplasmic vesicle membrane
Lissencephaly 4 with microcephaly
A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability.
Variantes genéticas (ClinVar)
534 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 18 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hidranencefalia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
FLVCR2 is a highly conserved member of the major facilitator superfamily (MFS), the largest superfamily of solute carriers that are involved in the transport of small molecules across lipid bilayers. The loss of the murine ortholog Mfsd7c, an endothelial transporter in brain blood vessels, causes brain angiogenic growth deficiency and lethality. Recessive FLVCR2 variants cause proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome. This often-lethal condition features microcephaly, skeletal deformities, and severe cerebrovascular defects. Although a number of cases have been reported, very limited evidence of the pathogenicity of FLVCR2 variants is available. In this study, we thoroughly investigated a new fetal case of Fowler syndrome. Through exome sequencing, we identified two compound heterozygous FLVCR2 variants: the maternal c.1124+3_1124+6del and the paternal p.(Arg492Trp). The effects of the c.1124+3_1124+6del variant were investigated through a minigene assay, which showed impaired splicing of the exon 5 of FLVCR2. To characterize the impact of the p.(Arg492Trp) substitution, we performed protein modeling using Rosetta and DynaMut2, that showed a highly destabilizing effect. Then, based on the very recent evidence that choline is a major FLVCR2 ligand, we performed a radiolabeled-choline or ethanolamine transport assays in HEK 293 cells and found that the p.(Arg492Trp) variant causes a 50-60% reduction of FLVCR2 transport activity, resulting in a net activity of 25-30%. Our findings suggest that FLVCR2 deficiency may be sufficient to cause PVHH even in the absence of a complete loss of transport activity, possibly involving extragenetic factors in the pathophysiology of this complex condition.
Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
In 2022, piggeries in southeastern Australia experienced an increase in reproductive losses and occasional neurologic disease in neonates with up to 100% mortality in some litters. Molecular testing identified a genotype IV Japanese encephalitis virus (JEV) as the etiological agent, detected for the first time in Australia. Necropsy of 235 JEV-positive domestic piglets, mostly stillbirths with 30% mummified, revealed hydranencephaly-porencephaly impacting the dorsal cerebrum as the most common lesion. Microscopically, this was characterized by varying degrees of parenchymal collapse as a result of liquefactive necrosis, hypoplasia, and dysplasia, with nonsuppurative inflammation and mineralization. In the most severe cases, hydranencephaly reduced the cerebral parenchyma to a thin membrane enclosing dilated lateral ventricles. Histologically, the affected neuroparenchyma was largely devoid of mature neurons, axons, myelin, and oligodendrocytes. What remained was mostly a dense population of IBA-1-positive histiocytes and few CD3-positive T-lymphocytes, interspersed within a dense network of GFAP-positive astrocytic processes. Immunohistochemistry for flaviviral antigen showed colocalization of viral antigen-positive neurons and necrotic foci. In less severe cases, cerebral necrosis occurred in well-demarcated, locally extensive regions or isolated gyri, sometimes with a vascular distribution, resulting in porencephaly. In addition, vascular calcification was noted, although with unknown significance and pathogenesis. Arthrogryposis, scoliosis, and kyphosis were observed in a small subset of the cases, which had myelodysplasia. Myelodysplastic changes varied and included central canal duplication, dysplastic gray matter, and bifurcation of the ventral medial sulcus. Multifocal necrosis and inflammation were also observed in the spinal cord, although the extent was typically limited.
The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.
The aim of the study was to analyze the evolution, indications, and outcomes of cephalocentesis over a 38-year period at two tertiary fetal medicine centers. A retrospective review of 70 cephalocentesis procedures (1985-2023) was conducted at Mount Sinai Hospital, Toronto, and the National Maternity Hospital, Dublin. Cases were divided into pre-2002 (n = 37) and 2002-onward (n = 33) cohorts in order to evaluate practice evolution. Mean gestational age at diagnosis was 32.7 ± 5.4 weeks with severe hydrocephalus in 95.7% (67/70) and hydranencephaly in 4.3% (3/70) of cases. Pre-2002, 94.6% (35/37) of procedures were performed intrapartum; 2002 onward, this shifted to 66.7% (22/33) pre-labor planned procedures with 84.8% (28/33) using a transabdominal approach. Concurrent fetal analgesia and potassium chloride (KCl) to achieve fetal asystole was introduced in 2002. Vaginal delivery was achieved in 95.7% (67/70) of cases. Perinatal mortality (excluding KCl cases) was 91.8% (45/49). All four survivors (5.8%) demonstrated neurodevelopmental impairment. Cephalocentesis has evolved from an intrapartum intervention to a planned procedure with standardized protocols. Our findings support reserving this procedure for cases where there is no expectation of postnatal survival, with the primary purpose of facilitating vaginal delivery when caesarean section could unnecessarily increase maternal morbidity.
A neutralizing antibody protects Kunming mice against AKAV lethal challenge.
Akabane virus (AKAV) infection is associated with arthrogryposis-hydranencephaly syndrome in ruminants. Current commercialized AKAV live attenuated vaccines have safety concerns and cannot fully protect against all genotypes or emerging strains. Thus, developing a new type of vaccine or treatment is urgently required. The neutralizing antibodies (NAbs) directed against the Gc protein can efficiently neutralize the corresponding Bunyavirales viruses. We previously generated three NAbs against the Gc protein of AKAV that collectively recognize a highly conserved epitope among diverse AKAV genotypes and established a mouse model of AKAV infection. Here, our objective was to evaluate the protective efficacy of one of the produced NAbs, 4F12, against AKAV infection using the mouse model. Suckling Kunming mice were first intraperitoneally administered varying doses of the NAb 4F12, followed by intraperitoneal (IP) or intracerebral (IC) challenge with a lethal dose of AKAV. Clinical symptoms, body weight, and mortality were then monitored and recorded daily for 14 days. The AKAV RNA, viral particles, antigens distribution, and microscopic lesions in the brain tissues of the experimental mice were analyzed. All mice that did not receive 4F12 pretreatment died before the experimental endpoint, regardless of the AKAV challenge routes. While a dose-dependent survival increase (50% ~ 83.33%) was observed in 4F12-pretreated mice, with higher antibody concentrations conferring greater protection against both IC and IP AKAV challenges. Moreover, all mice that survived AKAV challenge due to 4F12 pretreatment showed complete absence of AKAV RNA, viral particles, and antigens in brain tissues, with no detectable virus-associated brain lesions. We proved that the NAb 4F12 could reduce the AKAV-induced mortality in mice. 4F12 is a promising candidate suitable for clinical development as an AKAV therapeutic. The highly conserved epitope recognized by 4F12 provides critical insights for the design of new broadly protective AKAV vaccines.
Research progress on the N gene of Akabane virus.
Akabane disease, an arthropod-borne viral infection transmitted by Culicoides mosquitoes, causes severe reproductive disorders in livestock, including abortion, stillbirth, and congenital arthrogryposis-hydranencephaly syndrome. Caused by Akabane virus (AKAV), a single-stranded negative-sense RNA virus of the genus Orthobunyavirus (family Peribunyaviridae), this pathogen poses significant economic threats to global cattle and sheep industries. This review comprehensively examines the nucleocapsid protein (N) encoded by the AKAV S segment, which forms a conserved ribonucleoprotein (RNP) complex essential for viral genome protection, replication, and transcription. The structural characteristics of the N gene were analyzed, its minimal genetic variation across genotypes (97-100% homology), and functional roles in viral pathogenesis. Furthermore, applications of the N gene in diagnostic development (e.g., ELISA, PCR, colloidal gold immunoassays) and vaccine design were summarized, highlighting its utility as an immunogenic target due to high conservation and early antibody in-duction. By integrating these genetic, structural, and applied research advances, this review provides a theoretical foundation for novel control strategies against AKAV.
Publicações recentes
[Hydranencephaly in a newborn calf after intrauterine BTV-3 infection in a beef cattle herd in Saxony/Germany].
Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.
A neutralizing antibody protects Kunming mice against AKAV lethal challenge.
Cattle Abortions and Congenital Malformations Due to Bluetongue Virus Serotype 3 in Southern Belgium, 2024.
📚 EuropePMC330 artigos no totalmostrando 117
Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
Veterinary pathologyThe Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.
Fetal diagnosis and therapyA neutralizing antibody protects Kunming mice against AKAV lethal challenge.
BMC veterinary researchCattle Abortions and Congenital Malformations Due to Bluetongue Virus Serotype 3 in Southern Belgium, 2024.
VirusesResearch progress on the N gene of Akabane virus.
Frontiers in veterinary scienceConstruction and Characterization of a Vesicular Stomatitis Virus Chimera Expressing Schmallenberg Virus Glycoproteins.
Veterinary sciencesCongenital Malformations of the Central Nervous System Caused by Bluetongue Virus Serotype 3 (BTV-3) in Two Calves.
Veterinary sciencesCerebral Malformations in Calves Presumed to Be Associated with an Outbreak of Bluetongue Virus Serotype 3 Infection.
Animals : an open access journal from MDPIIdentification of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy) in a pregnancy following single euploid embryo transfer.
Journal of assisted reproduction and geneticsFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.
Developmental medicine and child neurologyInvestigating serological evidence of Schmallenberg virus in cattle in eastern Algeria.
Veterinary research forum : an international quarterly journalA hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
European journal of human genetics : EJHGHydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.
Malawi medical journal : the journal of Medical Association of MalawiCerebrolith in hydranencephaly.
Pediatric radiologyHydranencephaly in a Newborn: A Case Report and a Review of the Literature.
CureusGeneration of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells.
Stem cell researchBiallelic missense CEP55 variants cause prenatal MARCH syndrome.
Journal of human geneticsBiallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Genetics in medicine : official journal of the American College of Medical GeneticsStudy of Akabane disease in an Iranian dairy herd: a re-emerging disease.
Veterinary research communicationsAn outbreak of Akabane disease in a cattle herd on the Mughan plain, Iran.
Veterinary research forum : an international quarterly journalReplication of Akabane virus and related orthobunyaviruses in a fetal-bovine-brain-derived cell line.
Archives of virologyPrevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
Journal of community geneticsA case of testicular cancer in a long-term hydranencephaly survivor with undescended testes.
IJU case reportsType 1 early infantile epileptic encephalopathy: A case report and literature review.
Molecular genetics & genomic medicineEthics in Practice: Laryngotracheoplasty Versus Tracheostomy in a Patient With Severe Hydranencephaly.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryGenetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
NeurogeneticsVentriculoperitoneal Shunt Alone for Spontaneous Cerebrospinal Fluid Rhinorrhea as a Presenting Symptom of Hemi-hydranencephaly.
The Journal of craniofacial surgeryCEP55-associated lethal fetal syndrome: a case report of a Chinese family.
Frontiers in geneticsCongenital malformations caused by Akabane virus in porcine fetuses in southern Japan.
Veterinary research communicationsA forensic case of hydranencephaly in a preterm neonate fully documented by postmortem imaging techniques.
Forensic sciences researchHydranencephaly following carbon monoxide poisoning during pregnancy: An uncommon and potentially fatal complication in infant.
Birth defects researchCongenital cerebral and cerebellar anomalies in relation to bovine viral diarrhoea virus and Akabane virus in newborn calves.
Acta veterinaria HungaricaEpidemiology of Chuzan Virus Infection in Free-Ranging and Farmed Cervids in South Korea: A Seroprevalence Survey.
Journal of wildlife diseasesHemihydranencephaly in a cat.
The Journal of small animal practiceHydranencephaly in CENPJ-related Seckel syndrome.
European journal of medical geneticsHydranencephaly in a newborn due to occupational toluene exposure during pregnancy: a case report.
Acute and critical carePeripartum cephalocenthesis in a large fetal hydranencephaly.
Journal of perinatal medicineChoroid Plexectomy for Hydrocephalus Management in a Pediatric Patient with a Pilocytic Astrocytoma.
Journal of neurosciences in rural practiceNDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
American journal of medical genetics. Part ASeroepidemiology of Aino Virus in Farmed and Free-Ranging Cervids in the Republic of Korea.
Frontiers in veterinary scienceA novel ARX loss of function variant in female monozygotic twins is associated with chorea.
European journal of medical geneticsComputed tomography (CT) scan findings in calves with hydranencephaly.
Iranian journal of veterinary researchFatal fetal abnormality Irish live-born survival-an observational study.
Journal of community geneticsUltrasonographic approach and findings in calves with hydranencephaly.
Veterinary medicine and scienceBiallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.
AJP reportsThe spectrum of brain malformations and disruptions in twins.
American journal of medical genetics. Part APrenatal diagnosis of fetal microhydranencephaly: a case report and literature review.
BMC pregnancy and childbirthHydranencephaly: Clinical Features and Survivorship in a Retrospective Cohort.
World neurosurgeryVariability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Clinical geneticsUnveiling what is absent within: illustrating anesthetic considerations in a patient with hydranencephaly - a case report.
BMC anesthesiologyMultiple Cephalic Malformations in a Calf.
Animals : an open access journal from MDPIQuantitative contrast-enhanced ultrasound of the brain on twin fetal lambs maintained by the extrauterine environment for neonatal development (EXTEND): initial experience.
Pediatric radiologyA video polysomnographic study of spontaneous smiling during sleep in newborns.
Journal of sleep researchAbnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncExpanding the phenotype of COL4A1-related disorders-Four novel variants.
Brain & developmentHydranencephaly treatments: retrospective case series and review of the literature.
Journal of neurosurgery. PediatricsExpanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Clinical geneticsHydranencephaly in a Neonate: A Literature Review.
Neurology IndiaExpanding the spectrum of CEP55-associated disease to viable phenotypes.
American journal of medical genetics. Part AManagement and problems of prolonged survival with hydranencephaly in the modern treatment era.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical cases of Bluetongue serotype 8 in calves in France in the 2018-2019 winter.
Transboundary and emerging diseasesPrenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
Journal of clinical ultrasound : JCUSchmallenberg virus: a systematic international literature review (2011-2019) from an Irish perspective.
Irish veterinary journalSchmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain.
Acta virologicaThe Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly.
African journal of reproductive healthMarching out of the crypt.
Science (New York, N.Y.)Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation.
Genes to cells : devoted to molecular & cellular mechanismsRight Brain: A state of emotional aphasia.
NeurologyHydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAn unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPhenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.
American journal of medical genetics. Part AAn Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
European journal of human genetics : EJHGAerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.
Birth defects researchFirst genomic detection of Peaton virus in a calf with hydranencephaly in Israel.
Veterinary medicine and scienceCabergoline versus bromocriptine for the treatment of giant prolactinomas: A quantitative and systematic review.
Metabolic brain diseaseFowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
Pediatric radiologyProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Molecular genetics & genomic medicinePrenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.
Taiwanese journal of obstetrics & gynecologyMalformations attributed to the process of vascular disruption.
Birth defects research[Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus].
Archivos argentinos de pediatriaDiscrepancy Between Cerebral Structure and Cognitive Functioning: A Review.
The Journal of nervous and mental diseaseSeroprevalence of Schmallenberg virus in dairy cattle in Ethiopia.
Acta tropicaTeratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical.
Current opinion in virologyCongenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq.
Veterinary worldApplication of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.
Korean journal of pediatricsA large-scale serological survey of Akabane virus infection in cattle, yak, sheep and goats in China.
Veterinary microbiologyDiagnosis and treatment of herpes simplex 1 virus infection in pregnancy.
Obstetric medicineChoroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHeparan Sulfate Proteoglycan Is an Important Attachment Factor for Cell Entry of Akabane and Schmallenberg Viruses.
Journal of virologyEvidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected.
Transboundary and emerging diseasesA truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Journal of medical geneticsInfant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program.
American journal of obstetrics and gynecologyPrevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012.
PLoS neglected tropical diseasesHydranencephaly in Monochorionic-Diamniotic Twins.
Pediatric neurologyCharacterization of Shuni viruses detected in Israel.
Virus genesA Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.
Case reports in ophthalmologyA novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
GeneA lethal phenotype associated with tissue plasminogen deficiency in humans.
Human genetics[Vascular disruption birth defects are not associated to chromosomal alterations].
Ginecologia y obstetricia de MexicoGlioblastoma in hemihydranencephaly: preoperative and postoperative language ability of the right hemisphere.
Acta neurochirurgicaBilateral population receptive fields in congenital hemihydranencephaly.
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise.
PLoS neglected tropical diseasesCongenital multi-organ malformations in a Holstein calf.
Veterinary research forum : an international quarterly journalSeroprevalence of Schmallenberg virus infection in sheep and goats flocks in Germany, 2012-2013.
Veterinary medicine and scienceSEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS.
Genetic counseling (Geneva, Switzerland)Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.
Pediatric neurologyTUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Scientific reportsHydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation.
Turkish neurosurgerySchmallenberg disease in sheep or goats: Past, present and future.
Veterinary microbiologyProfound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly.
Pediatric neurologyVirus-induced congenital malformations in cattle.
Acta veterinaria ScandinavicaCentral nervous system injury in utero: selected entities.
Pediatric radiologyGeneration of a Recombinant Akabane Virus Expressing Enhanced Green Fluorescent Protein.
Journal of virologyGenotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.
Frontiers in neuroscienceHyperbole as Harmful as Cocaine.
Birth defects research. Part A, Clinical and molecular teratologyIncreased expressions of ADAMTS-13, neuronal nitric oxide synthase, and neurofilament correlate with severity of neuropathology in Border disease virus-infected small ruminants.
PloS oneMutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Clinical geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
- Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
- The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.
- A neutralizing antibody protects Kunming mice against AKAV lethal challenge.
- Research progress on the N gene of Akabane virus.
- [Hydranencephaly in a newborn calf after intrauterine BTV-3 infection in a beef cattle herd in Saxony/Germany].
- Cattle Abortions and Congenital Malformations Due to Bluetongue Virus Serotype 3 in Southern Belgium, 2024.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2177(Orphanet)
- MONDO:0016344(MONDO)
- GARD:6681(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2565270(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
