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.
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.
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
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 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
3 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.
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
Secreted, extracellular space, extracellular matrix, basement membrane
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.
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
Secreted, extracellular space, extracellular matrix, basement membrane
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.
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)
Endoplasmic reticulum lumen
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.
Variantes genéticas (ClinVar)
1,240 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 324 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 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 — Porencefalia familiar
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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
Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.
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.
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.
Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
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.
Life-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.
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.
Collagen IV in Gould syndrome and Alport syndrome.
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
Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.
Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.
Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
Neurodevelopmental Changes in the Guinea Pig Brain Caused by Time-Limited Complete Vitamin C Deprivation.
📚 EuropePMC254 artigos no totalmostrando 140
Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationHydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
Veterinary pathologyMultimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
Frontiers in neuroscienceNeurodevelopmental Changes in the Guinea Pig Brain Caused by Time-Limited Complete Vitamin C Deprivation.
NutrientsBeyond infection: Ommaya reservoir-induced vasogenic edema and reversible leukoencephalopathy.
Oxford medical case reportsLife-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.
Surgical neurology internationalCollagen IV in Gould syndrome and Alport syndrome.
Nature reviews. NephrologyFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.
Developmental medicine and child neurologyA unilateral open-lip schizencephaly in a neonate: A rare case report.
Radiology case reportsHow many cranial CT scans does a man need?
Practical neurologyDr. Richard L. Heschl: A Name Known by Everyone, a Man Known by None.
World neurosurgeryObsessive-compulsive disorder and temporal lobe porencephaly: a case report.
BMC psychiatryPhenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.
Epilepsia openUnsupported walking with only half of the brain due to severe porencephaly.
Journal of family medicine and primary careIntracranial hemorrhage and additional anomalies detected on prenatal magnetic resonance imaging: A large, retrospective study in two tertiary medical institutions.
HeliyonCOL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.
American journal of medical genetics. Part APorencephaly and Psychosis: A Rare Case of Neurological and Psychiatric Intersection.
CureusFetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study.
Annals of neurologyInternal porencephalic cyst.
BMJ case reportsTeaching NeuroImage: Porencephaly and Hemorrhage in Infantile COL4A2-Related Cerebral Microangiopathy.
NeurologyMultiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
American journal of medical genetics. Part C, Seminars in medical geneticsCol4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.
International journal of medical sciencesCOL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
Frontiers in pediatricsHemispheric surgery in children: perisylvian technique.
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American journal of medical genetics. Part AVentriculoperitoneal shunt for giant porencephaly: a case report and literature review.
Frontiers in surgeryInfantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
BMJ case reportsExpanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.
Pediatric neurosurgeryAre postnatal traumatic events an underestimated cause of porencephalic lesions in dogs and cats?
Frontiers in veterinary sciencePotential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.
Asian journal of endoscopic surgeryHypodipsic hypernatremia after long-standing polydipsia in a cat with suspect neonatal head trauma.
The Canadian veterinary journal = La revue veterinaire canadienneSpectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.
Pediatric neurologyPhenytoin-induced dyskinesia: a case report.
Journal of medical case reportsPorencephaly may Present even in Elderly.
The Journal of the Association of Physicians of IndiaCongenital cerebral and cerebellar anomalies in relation to bovine viral diarrhoea virus and Akabane virus in newborn calves.
Acta veterinaria HungaricaPrenatal diagnosis of familial porencephaly associated with fetal stroke.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyLeukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
Clinical neurology and neurosurgeryAggressive Pyogenic Spondylitis Caused by S. constellatus: A Case Report.
Diagnostics (Basel, Switzerland)Schizencephaly in Hereditary Hemorrhagic Telangiectasia.
AJNR. American journal of neuroradiologyPost-traumatic cysts detected by ultrasound in infant presented with first-time seizures: Case report.
Radiology case reportsCase report: Temporal alterations in vascular function during the first 2 weeks of pediatric septic shock.
Frontiers in pediatricsPseudo-porencephaly With Structural Epilepsy After Perinatal Intracerebral Bleeding.
Neurology IndiaPolysulfone tailor-made implant for the surgical correction of a frontoparietal meningoencephalocoele in a cat.
JFMS open reportsPsychosis Associated with Acquired Porencephaly-Cause or Incidental Finding? Case Report and Review of Literature.
Medicina (Kaunas, Lithuania)Expression of Concern: A Giant Porencephaly: A Rare Etiology of Pediatric Seizures.
CureusPrenatal 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 SocietyPorencephalic cyst in adult.
Autopsy & case reportsPorencephaly with an optic organ abnormality in a beagle dog.
Journal of toxicologic pathologyA Giant Porencephaly: A Rare Etiology of Pediatric Seizures.
CureusCase Report: Complex Congenital Brain Anomaly in a BBxHF Calf-Clinical Signs, Magnetic Resonance Imaging, and Pathological Findings.
Frontiers in veterinary scienceDiscordant electroencephalogram epileptiform activity and hemispherectomy in children with refractory epilepsy and encephaloclastic lesions: a case series.
Developmental medicine and child neurologyIdentification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.
Disease models & mechanismsProgressive cerebral atrophies in three children with COL4A1 mutations.
Brain & developmentEdge-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 reportsPseudo-porencephaly Mimicking Multiple Intracerebral Hemorrhages.
Internal medicine (Tokyo, Japan)Surgical strategy for refractory epilepsy secondary to porencephaly: ictal SPECT may obviate the need for intracranial electroencephalography. Patient series.
Journal of neurosurgery. Case lessonsNovel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.
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Acta neurologica BelgicaBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.
Neurology. GeneticsNovel COL4A2 mutation causing familial malformations of cortical development.
European review for medical and pharmacological sciencesNovel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
Human genome variationSonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.
The journal of maternal-fetal & 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 ObstetriciansThe spectrum of brain malformations and disruptions in twins.
American journal of medical genetics. Part AVein of Galen Aneurysmal Malformation.
American journal of obstetrics and gynecologyNeuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood.
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Pediatric neurologyp.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.
Frontiers in neurologyPorencephaly and Intracranial Calcifications in a Neonate.
Pediatrics in reviewAn Iatrogenic Model of Brain Small-Vessel Disease: Post-Radiation Encephalopathy.
International journal of molecular sciencesTargeted re-sequencing in pediatric and perinatal stroke.
European journal of medical geneticsMultilobar Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom.
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Journal of medical geneticsAbnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Radiographics : a review publication of the Radiological Society of North America, Inc"I Do not know them" - Capgras syndrome associated with porencephaly and agenesis of the Splenium.
Asian journal of psychiatryPrevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPhenotypic characterization of COL4A1-related West syndrome.
Epilepsy researchRisk factors and results of hemispherotomy reoperations in children.
Neurosurgical focusVasospasm Following Hemispherectomy: A Case Report of a Novel Complication.
World neurosurgerySurgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).
Epileptic disorders : international epilepsy journal with videotapeWhole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
PloS oneOptic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation.
Case reports in ophthalmologyPhentermine Use During First and Second Trimesters Associated with Fetal Stroke.
CureusCerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.
Neuropathology : official journal of the Japanese Society of NeuropathologyIntraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures.
Radiology case reportsA case of left congenital homonymous hemianopia associated with right occipital porencephaly.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieLife-threatening muscle complications of COL4A1-related disorder.
Brain & developmentCOL4A1 MUTATIONS IN TWO INFANTS WITH CONGENITAL CATARACTS AND PORENCEPHALY: AN OPHTHALMOLOGIC PERSPECTIVE.
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Acta virologicaThe Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program.
Biology openCOL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Human geneticsIncreased 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)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 pathologyAsymmetry of the bilateral bispectral index in a hemiparetic patient with porencephaly.
Journal of clinical anesthesiaFetal 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 SocietyFurther refinement of COL4A1 and COL4A2 related cortical malformations.
European journal of medical geneticsRelationships among clinic, home, and ambulatory blood pressures with small vessel disease of the brain and functional status in older people with hypertension.
American heart journalA case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
Brain & developmentNovel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
Human genome variationPorencephalic cyst: a rare cause of new-onset seizure in an adult.
Journal of community hospital internal medicine perspectivesSuccessful hemispherotomy in two refractory epilepsy patients with cerebral hemiatrophy and contralateral EEG abnormalities.
Brain & developmentSchizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.
Yonago acta medicaA 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 NeurosurgeryBasement membrane collagen IV: Isolation of functional domains.
Methods in cell biologyTeratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical.
Current opinion in virologyFetopathic effects of experimental Schmallenberg virus infection in pregnant goats.
Veterinary microbiologyAn Atypical Porencephalic Cyst Manifesting as a Simple Partial Seizure: A Case Report and Literature Review.
Case reports in neurological medicineIntravenous Alteplase for Acute Stroke and Pulmonary Embolism in a Patient With Recent Abdominoplasty.
The neurologistNovel COL4A2 variant in a large pedigree: Consequences and dilemmas.
Clinical geneticsClinical Features, Imaging Characteristics, and Long-term Outcome of Dogs with Cranial Meningocele or Meningoencephalocele.
Journal of veterinary internal medicineA 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 reportsCOL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
Pediatric neurology[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 developmentFetal cytomegalovirus infection.
Best practice & research. Clinical obstetrics & gynaecologyDramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
Brain & developmentMEG May Reveal Hidden Population of Spikes in Epilepsy With Porencephalic Cyst/Encephalomalacia.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyA 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 AssociationEvaluation of long-term neurodevelopment in twin-twin transfusion syndrome after laser therapy.
Prenatal diagnosisDyke-Davidoff-Masson Syndrome: Time to Revisit Case Series.
The Journal of the Association of Physicians of IndiaPorencephaly in a fennec fox (Vulpes zerda).
The Journal of veterinary medical scienceBirth defects and neonatal morbidity caused by teratogen exposure after the embryonic period.
Birth defects research. Part A, Clinical and molecular teratologyThe pathology of incipient polymicrogyria.
Brain & developmentRight hemisphere dominance for language in a woman with schizophrenia and a porencephalic cyst of the left hemisphere.
NeurocaseMolecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
American journal of medical genetics. Part ADecrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly.
Neurosciences (Riyadh, Saudi Arabia)Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.
The Neurodiagnostic journalA mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
American journal of medical genetics. Part ANormal 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 NeurophysiologyNeuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.
Pediatric neurologyThe Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.
Journal of child neurologyVirus-induced congenital malformations in cattle.
Acta veterinaria ScandinavicaDrosophila type IV collagen mutation associates with immune system activation and intestinal dysfunction.
Matrix biology : journal of the International Society for Matrix BiologyThe role of computerized tomographic scan in the management of children with cerebral palsy.
The Nigerian postgraduate medical journalTwo families with novel missense mutations in COL4A1: When diagnosis can be missed.
Journal of the neurological sciencesPorencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy.
The Journal of veterinary medical scienceMolecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
CirculationThe 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 GeneticsAntenatal diagnosis of intracranial haemorrhage and porencephalic cyst.
BMJ case reportsMirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands.
Minerva pediatricaCongenital porencephaly in a new born child.
Journal of clinical and diagnostic research : JCDRAssociações
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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.
- Magnetic Resonance and Computed Tomographic Findings in a Case of Encephaloclastic Porencephaly in a Sulawesi Crested Macaque.Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association· 2026· PMID 41766441mais citado
- Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
- Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
- Life-threatening exacerbation of a chronic porencephalic cyst in an adult: A case report and literature review.
- Collagen IV in Gould syndrome and Alport syndrome.
- Diagnostic yield and imaging: aetiology correlations in prenatal intracranial haemorrhage-a retrospective cohort study.
- Neurodevelopmental Changes in the Guinea Pig Brain Caused by Time-Limited Complete Vitamin C Deprivation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2940(Orphanet)
- MONDO:0017410(MONDO)
- GARD:7430(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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
