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Journal of Toxicologic Pathology Mar 2012Porencephaly was observed in a female cynomolgus monkey (Macaca fascicularis) aged 5 years and 7 months. The cerebral hemisphere exhibited diffuse brownish excavation...
Porencephaly was observed in a female cynomolgus monkey (Macaca fascicularis) aged 5 years and 7 months. The cerebral hemisphere exhibited diffuse brownish excavation with partial defects of the full thickness of the hemispheric wall, and it constituted open channels between the lateral ventricular system and arachnoid space. In addition, the bilateral occipital lobe was slightly atrophied. Histopathologically, fibrous gliosis was spread out around the excavation area and its periphery. In the roof tissue over the cavity, small round cells were arranged in the laminae. They seemed to be neural or glial precursor cells because they were positive for Musashi 1 and negative for NeuN and GFAP. In the area of fibrous gliosis, hemosiderin or lipofuscin were deposited in the macrophages, and activated astroglias were observed extensively around the excavation area.
PubMed: 22481858
DOI: 10.1293/tox.25.45 -
Revista de Neurologia
Topics: Brain; Humans; Terminology as Topic
PubMed: 10229972
DOI: No ID Found -
Journal of the American Academy of... Feb 1984In congenital generalized fibromatosis (CGF), fibrous nodules involve the skin, bone, and viscera, and the mortality rate is as high as 80% because the visceral nodules... (Review)
Review
Congenital generalized fibromatosis: a review of the literature and report of a case associated with porencephaly, hemiatrophy, and cutis marmorata telangiectatica congenita.
In congenital generalized fibromatosis (CGF), fibrous nodules involve the skin, bone, and viscera, and the mortality rate is as high as 80% because the visceral nodules can significantly obstruct and compress vital organs. If the fibromas involve only the skin and skeleton and not the viscera, the disease is known as congenital multiple fibromatosis, and the prognosis is excellent. In both conditions, which may be variants of the same disease process, the fibromas resolve completely and spontaneously. There are no previous reports in the literature of CGF associated with cutis marmorata telangiectatica congenita (CMTC), hemiatrophy, or porencephaly with hemiparesis, although CMTC has been seen in conjunction with hemiatrophy. These associations may be coincidental.
Topics: Atrophy; Brain Diseases; Face; Female; Fibroma; Humans; Infant; Telangiectasis
PubMed: 6368619
DOI: 10.1016/s0190-9622(84)80009-2 -
Pediatric Neurology Dec 2020Perinatal stroke ranks second only to that of adult stroke in the overall stroke incidence. It is a major contributor to long-term neurological morbidity, which includes... (Review)
Review
Perinatal stroke ranks second only to that of adult stroke in the overall stroke incidence. It is a major contributor to long-term neurological morbidity, which includes cognitive dysfunction, cerebral palsy and seizures. Risk factors for stroke in the perinatal period differ from those in children and tend to be multifactorial. Differences in territorial predilection, response to injury, and stroke evolution exist when compared with childhood and adult stroke, and also among differing gestation age groups in the perinatal period (i.e., extreme preterm versus preterm versus term). The role of imaging is to diagnose stroke, exclude stroke mimics, establish the nature of stroke (arterial versus venous), and aid in prognostication. Magnetic resonance imaging is the mainstay of neuroimaging in perinatal stroke. Advanced imaging techniques such as diffusion tensor imaging and perfusion-weighted imaging are emerging as useful supplements to conventional imaging sequences. Here we describe the neuroimaging of perinatal arterial ischemic stroke with emphasis on imaging techniques, imaging phenotypes, stroke evolution, role of advanced imaging, and differences between stroke in preterm and term neonates. We also briefly describe the emerging role of fetal magnetic resonance imaging in the diagnosis of in utero stroke.
Topics: Fetal Diseases; Humans; Infant, Newborn; Ischemic Stroke; Neuroimaging; Prenatal Diagnosis
PubMed: 33038575
DOI: 10.1016/j.pediatrneurol.2020.08.011 -
Annals of Neurology Jan 2013Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this...
OBJECTIVE
Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations.
METHODS
We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult.
RESULTS
COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. Mutations include 10 missense, a nonsense, a frameshift, and 3 splice site mutations. Five mutations were confirmed as de novo events. One mutation was cosegregated with familial porencephaly, and 2 mutations were inherited from asymptomatic parents. Aberrant splicing was demonstrated by reverse transcriptase polymerase chain reaction analyses in 2 patients with splice site mutations.
INTERPRETATION
Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. Based on the finding that COL4A1 mutations were frequent in patients with porencephaly and schizencephaly, genetic testing for COL4A1 should be considered for children with these conditions.
Topics: Anemia, Hemolytic; Brain Diseases; Child; Child, Preschool; Collagen Type IV; Hemiplegia; Humans; Infant; Malformations of Cortical Development; Mutation; Phenotype; Porencephaly
PubMed: 23225343
DOI: 10.1002/ana.23736 -
European Journal of Human Genetics :... Aug 2012Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV...
Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral and ocular bleeding and developmental defects. We observed porencephaly and white matter lesions in members from two families that lack COL4A1 mutations. We hypothesized that COL4A2 mutations confer genetic predisposition to porencephaly, therefore we sequenced COL4A2 in the family members and characterized clinical, neuroradiological and biochemical phenotypes. Genomic sequencing of COL4A2 identified the heterozygous missense G1389R in exon 44 in one family and the c.3206delC change in exon 34 leading to frame shift and premature stop, in the second family. Fragmentation and duplication of epidermal basement membranes were observed by electron microscopy in a c.3206delC patient skin biopsy, consistent with abnormal collagen IV network. Collagen chain accumulation and endoplasmic reticulum (ER) stress have been proposed as cellular mechanism in COL4A1 mutations. In COL4A2 (3206delC) fibroblasts we detected increased rates of apoptosis and no signs of ER stress. Mutation phenotypes varied, including porencephaly, white matter lesions, cerebellar and optic nerve hypoplasia and unruptured carotid aneurysm. In the second family however, we found evidence for additional factors contributing to the phenotype. We conclude that dominant COL4A2 mutations are a novel major risk factor for familial cerebrovascular disease, including porencephaly and small-vessel disease with reduced penetrance and variable phenotype, which might also be modified by other contributing factors.
Topics: Adolescent; Adult; Animals; Apoptosis; Base Sequence; Basement Membrane; Brain; Brain Diseases; Child; Child, Preschool; Collagen Type IV; Consanguinity; Endoplasmic Reticulum Stress; Exons; Female; Genetic Predisposition to Disease; Hemiplegia; Heterozygote; Humans; Infant; Intracranial Aneurysm; Magnetic Resonance Imaging; Male; Mice; Mice, Knockout; Mutation; Pedigree; Porencephaly; Skin; Young Adult
PubMed: 22333902
DOI: 10.1038/ejhg.2012.20 -
AJNR. American Journal of Neuroradiology Jan 1998We determined the frequency of amygdalar-hippocampal atrophy in patients with congenital porencephaly-related seizure disorders to ascertain whether specific MR features...
PURPOSE
We determined the frequency of amygdalar-hippocampal atrophy in patients with congenital porencephaly-related seizure disorders to ascertain whether specific MR features of the porencephaly correlate with amygdalar-hippocampal atrophy and epilepsy.
METHODS
We studied brain MR images of 22 patients with congenital porencephaly and measured the volume of the amygdala, the hippocampal formation, and the porencephalic cyst. We then compared imaging features with seizure symptoms.
RESULTS
Porencephaly was unilateral in 20 patients and bilateral in two. Eighteen patients had cortical or subcortical cavitation and four had encephaloclastic changes (noncircumscribed parenchymal destruction associated with cystic components). The porencephaly was located in the middle cerebral artery territory in 12 patients, in the posterior cerebral artery in four, in the internal carotid artery in two, and in multiple vessels in four. The volume of the porencephalic cyst ranged from 1% to 32% of total intracranial volume (mean, 11%). Volumetry detected atrophy of the hippocampal formation in 21 cases (11 unilateral, 10 bilateral) and atrophy of the amygdala in 12 (nine unilateral, three bilateral). No correlation was found between size or location of the porencephaly and degree of hippocampal atrophy. Seizure symptoms correlated with mesial temporal origin but not with cyst location.
CONCLUSION
Amygdalar-hippocampal atrophy often coexists with congenital porencephaly (95%), and the atrophy may be bilateral despite unilateral cysts. Hippocampal structures should be carefully assessed in patients with porencephaly-related seizures.
Topics: Adolescent; Adult; Amygdala; Atrophy; Brain; Child; Child, Preschool; Congenital Abnormalities; Cysts; Epilepsy; Female; Hippocampus; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Sclerosis
PubMed: 9432171
DOI: No ID Found -
Brain & Development Aug 2012The epileptic characteristics and their differences in patients with porencephaly and schizencephaly were, respectively, evaluated. Eleven patients with porencephaly and... (Comparative Study)
Comparative Study
The epileptic characteristics and their differences in patients with porencephaly and schizencephaly were, respectively, evaluated. Eleven patients with porencephaly and eight patients with schizencephaly were retrospectively enrolled in this study. Five of the six patients with extensive porencephaly and all five patients with open-lip schizencephaly had been suffering from various types of epileptic seizures. Three patients with extensive porencephaly and all five patients with open-lip schizencephaly had presented with early onset seizures before 9 months of age. Two patients with extensive porencephaly and three patients with open-lip schizencephaly had presented with West syndrome. These two groups of patients with epileptic seizures showed generalized epilepsy or generalized epilepsy with unilateral dominancy at the onset, and then developed localization-related epilepsy or unilateral seizures with increasing age. The epileptic paroxysms showed multifocal independent spikes, which were not always localized in the defect or cleft sites at the last examination. Polytherapy or synergistic combinations were eventually introduced for these intractable seizures in both groups for patients without any evidence of efficacy. In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. All five patients with schizencephaly had been treated by polytherapy, and three of them had persistent intractable seizures in spite of trying rational monotherapy or two-drug therapy. The epileptic intractability associated with open-lip schizencephaly might be related to the epileptogenesis of these extensive and widespread defective lesions, which were commonly associated with cortical dysplasia. A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly.
Topics: Adolescent; Adult; Brain Diseases; Child; Collagen Type IV; Drug Combinations; Electroencephalography; Epilepsy; Female; Hemiplegia; Humans; Male; Malformations of Cortical Development; Porencephaly; Retrospective Studies; Young Adult
PubMed: 22024697
DOI: 10.1016/j.braindev.2011.10.001 -
Pediatria Polska Dec 1965
Topics: Brain; Child, Preschool; Female; Humans; Infant
PubMed: 5864929
DOI: No ID Found -
American Journal of Diseases of... Jul 1967
Topics: Brain Diseases; Cerebral Ventriculography; Cerebrospinal Fluid Shunts; Cysts; Female; Humans; Hydrocephalus; Infant, Newborn; Infant, Premature, Diseases; Male; Meningomyelocele; Postoperative Complications
PubMed: 4951529
DOI: 10.1001/archpedi.1967.02090220078014