Raras
Buscar doenças, sintomas, genes...
Porencefalia familiar
ORPHA:2940CID-10 · Q04.6CID-11 · LA05.60DOENÇA RARA

A porencefalia é uma condição em que há um espaço oco (uma cavidade) bem delimitado dentro do cérebro, de tamanho variável. As bordas dessa cavidade podem ser formadas por matéria cinzenta (uma parte do cérebro) com um desenvolvimento anormal, apresentando muitas dobras pequenas e irregulares. Em casos mais graves, essa cavidade pode criar uma comunicação entre a superfície externa do cérebro e os ventrículos (espaços preenchidos por líquido dentro do cérebro). A essa situação específica se dá o nome de esquizencefalia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A porencefalia é uma condição em que há um espaço oco (uma cavidade) bem delimitado dentro do cérebro, de tamanho variável. As bordas dessa cavidade podem ser formadas por matéria cinzenta (uma parte do cérebro) com um desenvolvimento anormal, apresentando muitas dobras pequenas e irregulares. Em casos mais graves, essa cavidade pode criar uma comunicação entre a superfície externa do cérebro e os ventrículos (espaços preenchidos por líquido dentro do cérebro). A essa situação específica se dá o nome de esquizencefalia.

Publicações científicas
623 artigos
Último publicado: 2026 Apr 14

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
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.6
🇧🇷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

Partes do corpo afetadas

🧠
Neurológico
17 sintomas
👁️
Olhos
10 sintomas
🦴
Ossos e articulações
4 sintomas
💪
Músculos
2 sintomas
❤️
Coração
2 sintomas
😀
Face
1 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade do movimento
Muito frequente (99-80%)
90%prev.
Porencefalia
Muito frequente (99-80%)
90%prev.
Espasticidade
Muito frequente (99-80%)
90%prev.
Ventriculomegalia
Muito frequente (99-80%)
55%prev.
Deficiência intelectual
Frequente (79-30%)
55%prev.
Convulsão
Frequente (79-30%)
63sintomas
Muito frequente (4)
Frequente (4)
Sem dados (55)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do movimentoAbnormality of movement
Muito frequente (99-80%)90%
PorencefaliaPorencephaly
Muito frequente (99-80%)90%
EspasticidadeSpasticity
Muito frequente (99-80%)90%
VentriculomegaliaVentriculomegaly
Muito frequente (99-80%)90%
Deficiência intelectualIntellectual disability
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico623PubMed
Últimos 10 anos144publicações
Pico202020 papers
Linha do tempo
2026Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2020Ano 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

3 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.

COL4A1Collagen alpha-1(IV) chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

VIAS BIOLÓGICAS (1)
Collagen degradation
MECANISMO DE DOENÇA

Hereditary angiopathy with nephropathy aneurysms and muscle cramps

The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.

OUTRAS DOENÇAS (8)
brain small vessel disease 1 with or without ocular anomaliesautosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndromeretinal arterial tortuositymicroangiopathy and leukoencephalopathy, pontine, autosomal dominant
HGNC:2202UniProt:P02462
COL4A2Collagen alpha-2(IV) chainDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

VIAS BIOLÓGICAS (1)
Collagen degradation
MECANISMO DE DOENÇA

Brain small vessel disease 2

An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures.

OUTRAS DOENÇAS (4)
porencephaly 2familial porencephalybrain small vessel disease 1 with or without ocular anomalieshemorrhage, intracerebral, susceptibility to
HGNC:2203UniProt:P08572
COLGALT1Procollagen galactosyltransferase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317)

LOCALIZAÇÃO

Endoplasmic reticulum lumen

VIAS BIOLÓGICAS (1)
Collagen biosynthesis and modifying enzymes
MECANISMO DE DOENÇA

Brain small vessel disease 3

An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.

OUTRAS DOENÇAS (2)
brain small vessel disease 3familial porencephaly
HGNC:26182UniProt:Q8NBJ5

Variantes genéticas (ClinVar)

1,240 variantes patogênicas registradas no ClinVar.

🧬 COL4A1: NM_001845.6(COL4A1):c.967G>T (p.Gly323Cys) ()
🧬 COL4A1: NM_001845.6(COL4A1):c.388-2del ()
🧬 COL4A1: GRCh38/hg38 13q31.3-34(chr13:89779269-114338054)x1 ()
🧬 COL4A1: NM_001845.6(COL4A1):c.563G>T (p.Gly188Val) ()
🧬 COL4A1: NM_001845.6(COL4A1):c.878G>C (p.Gly293Ala) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 324 variantes classificadas pelo ClinVar.

162
162
Patogênica (50.0%)
VUS (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
COL4A2: NM_001846.4(COL4A2):c.4038del (p.Arg1349fs) [Likely pathogenic]
COL4A2: NM_001846.4(COL4A2):c.1189+1G>A [Likely pathogenic]
JAM3: NM_032801.5(JAM3):c.406C>T (p.Gln136Ter) [Likely pathogenic]
COL4A2: NM_001846.4(COL4A2):c.2019_2022del (p.Gln674fs) [Pathogenic]
COL4A2: NM_001846.4(COL4A2):c.2264dup (p.Gly756fs) [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

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Porencefalia familiar

🗺️

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

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Publicações mais relevantes

Timeline de publicações
134 papers (10 anos)
#1

Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association2026 Mar

A 3-year-old intact female Sulawesi crested macaque (Macaca nigra) was referred for progressive abnormal behavior and ataxia in all four limbs. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions located in the occipital lobes and in the right cerebellar culmen, together with the presence of communication between the subarachnoid space and lateral ventricles. The lesions showed no contrast enhancement on CT. These imaging findings were consistent with porencephaly, which was confirmed on necropsy and histopathology. An inflammatory meningoencephalitis was diagnosed.

#2

Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.

Veterinary pathology2026 Feb 25

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.

#3

Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.

Frontiers in neuroscience2025

Cerebral small vessel disease (cSVD) is a leading cause of stroke and vascular contributions to cognitive impairment and dementia (VCID). Studying monogenic forms of cSVD can elucidate molecular pathways that are dysfunctional in the common sporadic forms and may serve as potential therapeutic targets. Mutations in COL4A1 and COL4A2 cause highly penetrant cSVD as part of the multisystem disorder known as Gould syndrome, which includes cerebrovascular manifestations such as porencephaly, early-onset stroke, leukoencephalopathy, and intracerebral hemorrhage (ICH). To investigate how allelic heterogeneity influences cerebrovascular phenotypes, we examined five Col4a1 mutant mouse strains that collectively model the clinical spectrum of Gould syndrome. Each strain underwent multimodal magnetic resonance imaging (MRI) at 14.1 Tesla to assess radiological features characteristic of cSVD. Multimodal MRI successfully identified typical cSVD-associated lesions across all Col4a1 mutant strains. The imaging revealed heterogeneous expressivity among the allelic variants in terms of lesion prevalence, size, and number. Furthermore, analysis across strains identified brain regions that were consistently more vulnerable to cSVD-related lesions. These findings demonstrate that high-field multimodal MRI can sensitively detect and differentiate cerebrovascular abnormalities among Col4a1 mutant mouse models of Gould syndrome. The approach provides a powerful, noninvasive platform for assessing genotype-phenotype relationships and for identifying brain regions at heightened risk in cSVD, supporting its potential use in early diagnosis and mechanistic studies of vascular pathology.

#4

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

Surgical neurology international2025

Porencephalic cysts are rare cerebrospinal fluid-filled cavities within the brain parenchyma, classified as either congenital or acquired (secondary to trauma, surgical interventions, ischemia, or infections). Clinical presentations vary depending on the cyst's size, location, and associated mass effect, with diagnosis established through neuroimaging. This report describes a rare, life-threatening exacerbation of a chronic porencephalic cyst in an adult, progressing to hydrocephalus and acute intracranial hypertension (IH). A 57-year-old female presented to an outpatient clinic with an 8-month history of gait disturbances, memory impairment, apathy-abulia, and wheelchair dependence. Eight years earlier, she had sustained a mild traumatic brain injury, during which a porencephalic cyst was incidentally detected on cranial computed tomography (CT) scan; however, she had not been followed up, and the finding was not disclosed during the current evaluation. A new cranial CT and magnetic resonance imaging revealed a large porencephalic cyst in the left frontal lobe with mass effect, bilateral foramen of Monro obstruction, and hydrocephalus. An elective endoscopic cyst-ventricle communication was planned. Two weeks later, the patient presented signs of acute IH, including severe headache, diplopia, and blurred vision. An emergent external ventricular drain (EVD) was placed into the cyst cavity, leading to rapid symptom relief. The EVD was subsequently replaced by a cyst-peritoneal shunt. One year later, the proximal catheter became exposed and required complete shunt removal. Since then, she has remained clinically stable and shunt free. This case represents a rare, adult-onset, life-threatening exacerbation of chronic porencephaly. It demonstrates the importance of long-term follow-up in patients with known porencephalic cysts, even if previously asymptomatic, and the efficacy of timely neurosurgical intervention and close radiological monitoring in preventing severe or potentially fatal complications.

#5

Collagen IV in Gould syndrome and Alport syndrome.

Nature reviews. Nephrology2025 Nov

Collagen IV is a basement membrane component that is encoded by six genes in mammals (COL4Α1-COL4A6). The α-chains encoded by these genes assemble into three known heterotrimers - collagen α1α1α2(IV), α3α4α5(IV) and α5α5α6(IV) - that provide structure and act as multifunctional signalling platforms. The ancestral collagen superfamily members collagen alpha-1(IV) chain (COL4Α1) and collagen alpha-2(IV) chain (COL4Α2) are present throughout the animal kingdom and in all developing and most mature mammalian tissues. Consistent with this broad distribution, variants in COL4A1 and COL4A2 cause a congenital multisystem disorder called Gould syndrome (GS), which is characterized by cerebral, ocular, muscular and kidney defects. The main clinical consequences involve the cerebral vasculature (porencephaly, small-vessel disease, leukoencephalopathy and intracerebral haemorrhage). However, the full clinical spectrum, including the organs affected and acquired phenotypes such as vascular dementia, is still being defined. By contrast, variants in COL4A3, COL4A4 or COL4A5 cause Alport syndrome (AS), a disorder of variable severity that affects the kidney, ear and eye. AS nephropathies often progress from haematuria to proteinuria, renal impairment and kidney failure. The auditory features include sensorineural hearing loss, whereas the ocular features comprise corneal dystrophy, lenticonus, dot-and-fleck retinopathy and maculopathy. Although GS and AS have little clinical resemblance, the high conservation of the genes and proteins suggests common elements of underlying pathophysiology. Conventional therapies that modify haemodynamics have lengthened the time to kidney failure for patients living with AS. However, no curative or mechanism-based interventions exist for GS. Gene-editing approaches hold promise for both disorders.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC254 artigos no totalmostrando 140

2026

Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2026

Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.

Veterinary pathology
2025

Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.

Frontiers in neuroscience
2025

Neurodevelopmental Changes in the Guinea Pig Brain Caused by Time-Limited Complete Vitamin C Deprivation.

Nutrients
2025

Beyond infection: Ommaya reservoir-induced vasogenic edema and reversible leukoencephalopathy.

Oxford medical case reports
2025

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

Surgical neurology international
2025

Collagen IV in Gould syndrome and Alport syndrome.

Nature reviews. Nephrology
2025

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.

Developmental medicine and child neurology
2025

A unilateral open-lip schizencephaly in a neonate: A rare case report.

Radiology case reports
2025

How many cranial CT scans does a man need?

Practical neurology
2025

Dr. Richard L. Heschl: A Name Known by Everyone, a Man Known by None.

World neurosurgery
2025

Obsessive-compulsive disorder and temporal lobe porencephaly: a case report.

BMC psychiatry
2025

Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.

Epilepsia open
2024

Unsupported walking with only half of the brain due to severe porencephaly.

Journal of family medicine and primary care
2024

Intracranial hemorrhage and additional anomalies detected on prenatal magnetic resonance imaging: A large, retrospective study in two tertiary medical institutions.

Heliyon
2025

COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

American journal of medical genetics. Part A
2024

Porencephaly and Psychosis: A Rare Case of Neurological and Psychiatric Intersection.

Cureus
2024

Fetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study.

Annals of neurology
2024

Internal porencephalic cyst.

BMJ case reports
2024

Teaching NeuroImage: Porencephaly and Hemorrhage in Infantile COL4A2-Related Cerebral Microangiopathy.

Neurology
2024

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

American journal of medical genetics. Part C, Seminars in medical genetics
2024

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.

International journal of medical sciences
2024

COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.

Frontiers in pediatrics
2024

Hemispheric surgery in children: perisylvian technique.

Neurosurgical focus: Video
2024

COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum.

American journal of medical genetics. Part A
2024

Ventriculoperitoneal shunt for giant porencephaly: a case report and literature review.

Frontiers in surgery
2024

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.

BMJ case reports
2024

Expanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.

Pediatric neurosurgery
2023

Are postnatal traumatic events an underestimated cause of porencephalic lesions in dogs and cats?

Frontiers in veterinary science
2024

Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.

Asian journal of endoscopic surgery
2023

Hypodipsic hypernatremia after long-standing polydipsia in a cat with suspect neonatal head trauma.

The Canadian veterinary journal = La revue veterinaire canadienne
2023

Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.

Pediatric neurology
2023

Phenytoin-induced dyskinesia: a case report.

Journal of medical case reports
2023

Porencephaly may Present even in Elderly.

The Journal of the Association of Physicians of India
2023

Congenital cerebral and cerebellar anomalies in relation to bovine viral diarrhoea virus and Akabane virus in newborn calves.

Acta veterinaria Hungarica
2023

Prenatal diagnosis of familial porencephaly associated with fetal stroke.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Clinical neurology and neurosurgery
2022

Aggressive Pyogenic Spondylitis Caused by S. constellatus: A Case Report.

Diagnostics (Basel, Switzerland)
2022

Schizencephaly in Hereditary Hemorrhagic Telangiectasia.

AJNR. American journal of neuroradiology
2022

Post-traumatic cysts detected by ultrasound in infant presented with first-time seizures: Case report.

Radiology case reports
2022

Case report: Temporal alterations in vascular function during the first 2 weeks of pediatric septic shock.

Frontiers in pediatrics
2022

Pseudo-porencephaly With Structural Epilepsy After Perinatal Intracerebral Bleeding.

Neurology India
2022

Polysulfone tailor-made implant for the surgical correction of a frontoparietal meningoencephalocoele in a cat.

JFMS open reports
2022

Psychosis Associated with Acquired Porencephaly-Cause or Incidental Finding? Case Report and Review of Literature.

Medicina (Kaunas, Lithuania)
2022

Expression of Concern: A Giant Porencephaly: A Rare Etiology of Pediatric Seizures.

Cureus
2022

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2022

Porencephalic cyst in adult.

Autopsy &amp; case reports
2022

Porencephaly with an optic organ abnormality in a beagle dog.

Journal of toxicologic pathology
2021

A Giant Porencephaly: A Rare Etiology of Pediatric Seizures.

Cureus
2021

Case Report: Complex Congenital Brain Anomaly in a BBxHF Calf-Clinical Signs, Magnetic Resonance Imaging, and Pathological Findings.

Frontiers in veterinary science
2022

Discordant electroencephalogram epileptiform activity and hemispherectomy in children with refractory epilepsy and encephaloclastic lesions: a case series.

Developmental medicine and child neurology
2021

Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.

Disease models &amp; mechanisms
2021

Progressive cerebral atrophies in three children with COL4A1 mutations.

Brain &amp; development
2021

Edge-to-edge repair of the systolic anterior motion of mitral valve and cardiac myectomy of the abnormally positioned papillary muscles in an infant with COL4A1 mutation.

Journal of surgical case reports
2021

Pseudo-porencephaly Mimicking Multiple Intracerebral Hemorrhages.

Internal medicine (Tokyo, Japan)
2021

Surgical strategy for refractory epilepsy secondary to porencephaly: ictal SPECT may obviate the need for intracranial electroencephalography. Patient series.

Journal of neurosurgery. Case lessons
2021

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.

Journal of neuropathology and experimental neurology
2022

Porencephaly causing limb size asymmetry.

Acta neurologica Belgica
2021

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.

Neurology. Genetics
2021

Novel COL4A2 mutation causing familial malformations of cortical development.

European review for medical and pharmacological sciences
2020

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Human genome variation
2022

Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2021

The spectrum of brain malformations and disruptions in twins.

American journal of medical genetics. Part A
2020

Vein of Galen Aneurysmal Malformation.

American journal of obstetrics and gynecology
2020

Neuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood.

Neurocase
2020

Neuroimaging Perspectives of Perinatal Arterial Ischemic Stroke.

Pediatric neurology
2020

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.

Frontiers in neurology
2020

Porencephaly and Intracranial Calcifications in a Neonate.

Pediatrics in review
2020

An Iatrogenic Model of Brain Small-Vessel Disease: Post-Radiation Encephalopathy.

International journal of molecular sciences
2020

Targeted re-sequencing in pediatric and perinatal stroke.

European journal of medical genetics
2020

Multilobar Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom.

Neurosurgery
2020

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.

Medicine
2021

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Journal of medical genetics
2020

Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2020

"I Do not know them" - Capgras syndrome associated with porencephaly and agenesis of the Splenium.

Asian journal of psychiatry
2021

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Phenotypic characterization of COL4A1-related West syndrome.

Epilepsy research
2020

Risk factors and results of hemispherotomy reoperations in children.

Neurosurgical focus
2020

Vasospasm Following Hemispherectomy: A Case Report of a Novel Complication.

World neurosurgery
2020

Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).

Epileptic disorders : international epilepsy journal with videotape
2020

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

PloS one
2019

Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation.

Case reports in ophthalmology
2019

Phentermine Use During First and Second Trimesters Associated with Fetal Stroke.

Cureus
2020

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.

Neuropathology : official journal of the Japanese Society of Neuropathology
2020

Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures.

Radiology case reports
2019

A case of left congenital homonymous hemianopia associated with right occipital porencephaly.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2020

Life-threatening muscle complications of COL4A1-related disorder.

Brain &amp; development
2019

COL4A1 MUTATIONS IN TWO INFANTS WITH CONGENITAL CATARACTS AND PORENCEPHALY: AN OPHTHALMOLOGIC PERSPECTIVE.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2019

Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain.

Acta virologica
2019

The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program.

Biology open
2019

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Human genetics
2019

Increased Susceptibility to Postoperative PCA Morphine-Induced Respiratory Depression in a Patient with an Undiagnosed Traumatic Porencephalic Cyst - A Case Report.

Journal of critical care medicine (Universitatea de Medicina si Farmacie din Targu-Mures)
2019

Porencephaly and Periventricular Encephalitis in a 4-month-old Puppy: Detection of Canine Parvovirus Type 2 and Potential Role in Brain Lesions.

Journal of comparative pathology
2019

Asymmetry of the bilateral bispectral index in a hemiparetic patient with porencephaly.

Journal of clinical anesthesia
2018

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2018

Further refinement of COL4A1 and COL4A2 related cortical malformations.

European journal of medical genetics
2018

Relationships among clinic, home, and ambulatory blood pressures with small vessel disease of the brain and functional status in older people with hypertension.

American heart journal
2018

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Brain &amp; development
2018

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

Human genome variation
2018

Porencephalic cyst: a rare cause of new-onset seizure in an adult.

Journal of community hospital internal medicine perspectives
2018

Successful hemispherotomy in two refractory epilepsy patients with cerebral hemiatrophy and contralateral EEG abnormalities.

Brain &amp; development
2017

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.

Yonago acta medica
2018

A porencephalic cyst formation in a 6-year-old female with a functioning ventriculoperitoneal shunt: a case-based review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

Basement membrane collagen IV: Isolation of functional domains.

Methods in cell biology
2017

Teratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical.

Current opinion in virology
2017

Fetopathic effects of experimental Schmallenberg virus infection in pregnant goats.

Veterinary microbiology
2017

An Atypical Porencephalic Cyst Manifesting as a Simple Partial Seizure: A Case Report and Literature Review.

Case reports in neurological medicine
2017

Intravenous Alteplase for Acute Stroke and Pulmonary Embolism in a Patient With Recent Abdominoplasty.

The neurologist
2017

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

Clinical genetics
2017

Clinical Features, Imaging Characteristics, and Long-term Outcome of Dogs with Cranial Meningocele or Meningoencephalocele.

Journal of veterinary internal medicine
2017

A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.

Oxford medical case reports
2017

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.

Pediatric neurology
2017

[Trends in the prevalence and characteristics of unilateral spastic cerebral palsy in patients born between 1988 and 2007 in Okinawa, Japan].

No to hattatsu = Brain and development
2017

Fetal cytomegalovirus infection.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2017

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.

Brain &amp; development
2017

MEG May Reveal Hidden Population of Spikes in Epilepsy With Porencephalic Cyst/Encephalomalacia.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2016

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2016

Evaluation of long-term neurodevelopment in twin-twin transfusion syndrome after laser therapy.

Prenatal diagnosis
2015

Dyke-Davidoff-Masson Syndrome: Time to Revisit Case Series.

The Journal of the Association of Physicians of India
2016

Porencephaly in a fennec fox (Vulpes zerda).

The Journal of veterinary medical science
2016

Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period.

Birth defects research. Part A, Clinical and molecular teratology
2017

The pathology of incipient polymicrogyria.

Brain &amp; development
2016

Right hemisphere dominance for language in a woman with schizophrenia and a porencephalic cyst of the left hemisphere.

Neurocase
2016

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

American journal of medical genetics. Part A
2016

Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly.

Neurosciences (Riyadh, Saudi Arabia)
2015

Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.

The Neurodiagnostic journal
2016

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

American journal of medical genetics. Part A
2016

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2016

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Pediatric neurology
2016

The Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.

Journal of child neurology
2015

Virus-induced congenital malformations in cattle.

Acta veterinaria Scandinavica
2016

Drosophila type IV collagen mutation associates with immune system activation and intestinal dysfunction.

Matrix biology : journal of the International Society for Matrix Biology
2015

The role of computerized tomographic scan in the management of children with cerebral palsy.

The Nigerian postgraduate medical journal
2015

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Journal of the neurological sciences
2015

Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy.

The Journal of veterinary medical science
2015

Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.

Circulation
2015

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
2015

Antenatal diagnosis of intracranial haemorrhage and porencephalic cyst.

BMJ case reports
2015

Mirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands.

Minerva pediatrica
2014

Congenital porencephaly in a new born child.

Journal of clinical and diagnostic research : JCDR
Ver todos os 254 no EuropePMC

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Doenças relacionadas

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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.

  1. Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.
    Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association· 2026· PMID 41766441mais citado
  2. Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
    Veterinary pathology· 2026· PMID 41738435mais citado
  3. Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
    Frontiers in neuroscience· 2025· PMID 41311701mais citado
  4. Life-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.
    Surgical neurology international· 2025· PMID 41112368mais citado
  5. Collagen IV in Gould syndrome and Alport syndrome.
    Nature reviews. Nephrology· 2025· PMID 40745060mais citado
  6. Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.
    Arch Dis Child Fetal Neonatal Ed· 2026· PMID 41980807recente
  7. Neurodevelopmental Changes in the Guinea Pig Brain Caused by Time-Limited Complete Vitamin C Deprivation.
    Nutrients· 2025· PMID 41228556recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2940(Orphanet)
  2. MONDO:0017410(MONDO)
  3. GARD:7430(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q492129(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

Porencefalia familiar
Compêndio · Raras BR

Porencefalia familiar

ORPHA:2940 · MONDO:0017410
Prevalência
Unknown
Herança
Multigenic/multifactorial, Not applicable
CID-10
Q04.6 · Cistos cerebrais congênitos
CID-11
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0302892
EuropePMC
Wikidata
Wikipedia
Papers 10a
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