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Zhonghua Wai Ke Za Zhi [Chinese Journal... Apr 1991In 45 cases of porencephaly 35 were male and 10 female. Their age ranged from 80 days to 58 years (mean 14 years). In this series, symptoms were observed 80 days to 22...
In 45 cases of porencephaly 35 were male and 10 female. Their age ranged from 80 days to 58 years (mean 14 years). In this series, symptoms were observed 80 days to 22 years before diagnosis. twenty-four cases were premature delivery, difficult labour or birth trauma. 14 cases had a history of head injury. 36 cases had congenital porencephalic cyst and 9 had post-traumatic porencephaly. The main symptoms and signs of porencephaly were dementia, speech defect, intracranial hypertension, hydrocephalus, epilepsy, ataxia or paralysis. etc. It is suggested that CT scan is very useful in the diagnosis of porencephaly, and section of cerebral cortex, opening of cyst, continuous drainage or shunting operation should be done as soon as the diagnosis was made.
Topics: Adolescent; Adult; Brain; Brain Diseases; Brain Injuries; Child; Child, Preschool; Cysts; Female; Humans; Infant; Male; Middle Aged
PubMed: 1874115
DOI: No ID Found -
Journal of Clinical Anesthesia Aug 2019
Topics: Adolescent; Anesthesia, General; Consciousness; Consciousness Monitors; Electroencephalography; Female; Humans; Lower Extremity; Monitoring, Intraoperative; Orthopedic Procedures; Paresis; Porencephaly
PubMed: 30594096
DOI: 10.1016/j.jclinane.2018.12.030 -
Clinical EEG (electroencephalography) Jan 1985With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was investigated in 13 patients with... (Comparative Study)
Comparative Study
With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was investigated in 13 patients with porencephaly and arachnoid cyst verified by CT scan. The spatial distribution of the EEG activity was displayed in the delta, theta, alpha-1, alpha-2, beta-1, and beta-2 frequency bands. The abnormality of EEG topographic images (e.g., an increase of the power of delta activity and/or a decrease of the power of alpha activity in the involved side of the brain) was more marked in cases with porencephaly than those with arachnoid cyst, and in cases with mental retardation or paralysis than among those without.
Topics: Adolescent; Arachnoid; Brain; Brain Diseases; Child; Child, Preschool; Cysts; Electroencephalography; Humans; Infant
PubMed: 4028451
DOI: 10.1177/155005948501600104 -
Prenatal Diagnosis Nov 1993
Topics: Adult; Arachnoid Cysts; Chorionic Villi Sampling; Female; Humans; Pregnancy
PubMed: 8140074
DOI: 10.1002/pd.1970131115 -
Science (New York, N.Y.) May 2005Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate...
Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of vascular basement membranes. Half of the mutant mice died with cerebral hemorrhage within a day of birth, and approximately 18% of survivors had porencephaly. We show that vascular defects are caused by a semidominant mutation in the procollagen type IV alpha 1 gene (Col4a1) in mice, which inhibits the secretion of mutant and normal type IV collagen. We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease.
Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Animals; Animals, Newborn; Basement Membrane; Brain; Brain Diseases; Cerebral Hemorrhage; Chromosome Mapping; Collagen Type IV; Endoderm; Heterozygote; Humans; Mice; Mutation; Protein Structure, Tertiary
PubMed: 15905400
DOI: 10.1126/science.1109418 -
Annals of Neurology Jan 1981The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without... (Review)
Review
The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with a method for establishing the clinical efficacy of antiepileptic drugs and determining their therapeutic serum concentrations. Computerized tomography has enhanced the identification of structural brain lesions. Most of the reported CT abnormalities consist of diffuse and focal atrophies, mild ventricular dilatations, and porencephalies. CT has detected tumors in 8 to 10% of the patients regardless of age or type of seizure involved. New concepts of antiepileptic drug therapy have developed from the recognition of pharmacological properties peculiar to each agent. Determination of serum antiepileptic drug levels has to be utilized to reduce the problem of pharmacokinetic variability from one patient to another and in the same patient at different times, so that dosage can be individualized to achieve maximum therapeutic effects with least toxicity. Review of the literature on pregnancy in epileptic women shows that a third to half experienced more seizures during gestation. Reduced serum levels of most antiepileptic drugs have recently been observed during gestation. Infants of epileptic women taking antiepileptic drugs have a two to three times greater risk for congenital anomalies than infants of nonepileptic women. However, with the exception of oxazolidinediones, evidence to date has not proved the teratogenicity of antiepileptic drugs. The role of genetic factors and the effect of seizures during pregnancy have not been determined. Modest progress has been made in epilepsy rehabilitation, but serious problems still remain. The unemployment rate of persons with epilepsy is twice the national average. Half of those who are successfully employed did not disclose their disorder at the time of employment. Several prognostic indicators have been reported, but the validity of many of these indicators is questionable. For example, does shorter life expectancy apply to all subgroups, or does it vary according to seizure type and cause? The life expectancy, treatment response, and probability of remission in epileptic persons must be reevaluated after consistent applications of current methods of epilepsy management.
Topics: Abnormalities, Drug-Induced; Adult; Anticonvulsants; Electroencephalography; Employment; Epilepsy; Female; Humans; Maternal-Fetal Exchange; Middle Aged; Pregnancy; Pregnancy Complications; Prognosis; Rehabilitation, Vocational; Tomography, X-Ray Computed; Videotape Recording
PubMed: 7011170
DOI: 10.1002/ana.410090103 -
Journal of AAPOS : the Official... Dec 2019
Topics: Brain Diseases; Cataract; Collagen Type IV; Humans; Infant; Mutation; Porencephaly
PubMed: 31525464
DOI: 10.1016/j.jaapos.2019.07.002 -
Frontiers in Neurology 2020COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic...
COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders.
PubMed: 33013618
DOI: 10.3389/fneur.2020.00827 -
European Journal of Paediatric... 2004Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and...
Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. Brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.
Topics: Adolescent; Adult; Brain; Central Nervous System Cysts; Cerebral Ventricles; Child; Child, Preschool; Dominance, Cerebral; Female; Follow-Up Studies; Genes, Dominant; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Netherlands; Neurologic Examination; Pedigree; Pregnancy; Thrombophilia; Tomography, X-Ray Computed
PubMed: 15023374
DOI: 10.1016/j.ejpn.2003.10.002 -
The Journal of Pediatrics Oct 1986
Topics: Brain; Brain Diseases; Child, Preschool; Female; Hemiplegia; Humans; Male; Tomography, X-Ray Computed
PubMed: 3761085
DOI: 10.1016/s0022-3476(86)80240-2