-
The American Journal of Roentgenology... Oct 1946
Topics: Atrophy; Brain; Brain Diseases; Central Nervous System Cysts; Humans; Porencephaly
PubMed: 21000817
DOI: No ID Found -
Neurology India 2022
Topics: Brain; Brain Diseases; Cerebral Hemorrhage; Epilepsy; Humans; Porencephaly
PubMed: 35864714
DOI: 10.4103/0028-3886.349580 -
Journal of AAPOS : the Official... Dec 2019
Topics: Cataract; Collagen Type IV; Humans; Infant; Mutation; Ophthalmology; Porencephaly
PubMed: 31580895
DOI: 10.1016/j.jaapos.2019.09.004 -
BMC Psychiatry Mar 2010Malformations of the cerebral cortex are often associated with developmental delay and psychoses. Porencephaly is a rare congenital disorder of central nervous system... (Review)
Review
BACKGROUND
Malformations of the cerebral cortex are often associated with developmental delay and psychoses. Porencephaly is a rare congenital disorder of central nervous system involving a cyst or a cavity filled with cerebrospinal fluid, in brain's parenchyma.
CASE PRESENTATION
We present a 25 years old woman with her first psychotic episode. She also suffers from porencephaly in the frontotemporal lobes region. It is emphasized that the two consistently abnormal brain regions in schizophrenia research had significant damage in this patient since birth. There is a total of only five cases of schizencephaly or porencephaly associated with psychosis in the scientific literature. Their clinical characteristics as well as the imaging results are described.
CONCLUSION
It is unclear if porencephaly and psychosis concur by chance or are causally related. The area where the porencephalic cysts appear seems to be of relevance. This case highlights the need for further research.
Topics: Adult; Central Nervous System Cysts; Comorbidity; Female; Functional Laterality; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Psychotic Disorders; Radiography; Schizophrenia, Paranoid
PubMed: 20196853
DOI: 10.1186/1471-244X-10-19 -
Genetics in Medicine : Official Journal... Nov 2015Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement... (Meta-Analysis)
Meta-Analysis Review
Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "COL4A1 mutation-related disorders." Genetic counseling is challenging because of broad phenotypic variation and reduced penetrance. At the Erasmus University Medical Center, diagnostic DNA analysis of both COL4A1 and COL4A2 in 183 index patients was performed between 2005 and 2013. In total, 21 COL4A1 and 3 COL4A2 mutations were identified, mostly in children with porencephaly or other patterns of parenchymal hemorrhage, with a high de novo mutation rate of 40% (10/24). The observations in 13 novel families harboring either COL4A1 or COL4A2 mutations prompted us to review the clinical spectrum. We observed recognizable phenotypic patterns and propose a screening protocol at diagnosis. Our data underscore the importance of COL4A1 and COL4A2 mutations in cerebrovascular disease, also in sporadic patients. Follow-up data on symptomatic and asymptomatic mutation carriers are needed for prognosis and appropriate surveillance.
Topics: Alleles; Anterior Eye Segment; Brain; Cerebral Hemorrhage; Cohort Studies; Collagen Type IV; Eye Abnormalities; Eye Diseases, Hereditary; Family; Gene Order; Genetic Association Studies; Genetic Loci; Genotype; Humans; Leukomalacia, Periventricular; Magnetic Resonance Imaging; Mutation; Pedigree; Phenotype; Porencephaly
PubMed: 25719457
DOI: 10.1038/gim.2014.210 -
Developmental Medicine and Child... Apr 1968
Topics: Cerebral Ventricles; Cerebral Ventriculography; Cysts; Humans; Hydrocephalus; Infant; Nutrition Disorders; Punctures
PubMed: 5301286
DOI: 10.1111/j.1469-8749.1968.tb02873.x -
Pediatrics Jul 1974
Topics: Brain Diseases; Cerebral Angiography; Congenital Abnormalities; Dura Mater; Electroencephalography; Encephalomalacia; Female; Humans; Infant; Infant, Newborn; Male; Paralysis; Pneumoencephalography; Radionuclide Imaging; Transillumination; Vision Disorders
PubMed: 4834300
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Jul 2023
Topics: Female; Humans; Pregnancy; Porencephaly; Prenatal Diagnosis; Stroke
PubMed: 36722041
DOI: 10.1002/uog.26168 -
United States Armed Forces Medical... Jul 1957
Topics: Brain; Central Nervous System Cysts; Cysts; Humans; Porencephaly
PubMed: 13443071
DOI: No ID Found -
Journal of Neuroradiology = Journal de... 1982
Topics: Adult; Brain Diseases; Cerebral Angiography; Child; Child, Preschool; Female; Humans; Infant; Male; Pneumoencephalography; Tomography, X-Ray Computed; Ultrasonography
PubMed: 7108590
DOI: No ID Found