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Medicina (Kaunas, Lithuania) Apr 2022Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of... (Review)
Review
Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case.
Topics: Adult; Brain; Brain Diseases; Child; Humans; Incidental Findings; Male; Porencephaly; Psychotic Disorders
PubMed: 35630003
DOI: 10.3390/medicina58050586 -
Yonago Acta Medica Dec 2017Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and...
Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls, suggestive of hemosiderosis secondary to intracranial hemorrhage. Case 2: Prenatal MRI showed bilateral cleft and cyst formation in the fetal cerebrum, as well as calcification and hemosiderosis indicative of past hemorrhage. T2-weighted images showed hypointensities in the same regions as the calcification, corresponding with hemosiderosis due to intracranial hemorrhage on postnatal day 10. Thus, prenatal MRI was useful for diagnosing schizencephaly and porencephaly. Schizencephaly and porencephaly were thought to be due to fetal intracranial hemorrhage, which, in the porencephaly case, may have been related to a mutation of .
PubMed: 29434494
DOI: 10.24563/yam.2017.12.005 -
The Journal of Veterinary Medical... Jul 2015Porencephaly is the congenital cerebral defect and a rare malformation and described few MRI reports in veterinary medicine. MRI features of porencephaly are recognized...
Porencephaly is the congenital cerebral defect and a rare malformation and described few MRI reports in veterinary medicine. MRI features of porencephaly are recognized the coexistence with the unilateral/bilateral hippocampal atrophy, caused by the seizure symptoms in human medicine. We studied 2 dogs and 1 cat with congenital porencephaly to characterize the clinical signs and MRI, and to discuss the associated MRI with hippocampal atrophy. The main clinical sign was the seizure symptoms, and all had hippocampal atrophy at the lesion side or the larger defect side. There is association between hippocampal atrophy or the cyst volume and the severe of clinical signs, and it is suggested that porencephaly coexists with hippocampal atrophy as well as humans in this study.
Topics: Animals; Atrophy; Cat Diseases; Cats; Dog Diseases; Dogs; Female; Hippocampus; Magnetic Resonance Imaging; Male; Porencephaly
PubMed: 25786357
DOI: 10.1292/jvms.14-0359 -
Developmental Medicine and Child... Jun 2012To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation. (Review)
Review
AIM
To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.
METHOD
We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was performed in all index cases and, where possible, in affected family members.
RESULTS
The three male and one female index cases presented with recurrent childhood-onset stroke, infantile hemiplegia/spastic quadriplegia, and infantile spasms. Additional features such as congenital cataracts and anterior segment dysgenesis were present. Microcephaly and developmental delay/learning difficulties were present in three cases. Three cases had one or more family member affected in multiple generations, with a total of 11 such individuals identified. The clinical features showed a wide intrafamilial variation. Magnetic resonance imaging (MRI) showed bilateral white matter change in all cases, except in one mutation-positive family member. Unilateral or bilateral porencephaly was present in cases with infantile hemiplegia, and a diagnosis of clinical stroke was supported by the presence of intracerebral haemorrhage. The age at diagnosis was between 1 year and 6 years for the children with presentation in infancy and 12 months after stroke in a 14-year-old male. Three new pathogenic mutations were identified in the COL4A1 gene.
INTERPRETATION
COL4A1 mutations can present in children with infantile hemiplegia/quadriplegia, stroke or epilepsy, and a motor disorder. The presence of eye features and white matter change on MRI in childhood can help point towards the diagnosis. Once the diagnosis is made, a careful search can identify affected family members.
Topics: Adolescent; Brain; Brain Diseases; Child; Child, Preschool; Collagen Type IV; Eye Abnormalities; Family Health; Female; Hemiplegia; Humans; Infant; Magnetic Resonance Imaging; Male; Mutation; Porencephaly; Retrospective Studies
PubMed: 22574627
DOI: 10.1111/j.1469-8749.2011.04198.x -
Internal Medicine (Tokyo, Japan) Dec 2021
Topics: Cerebral Hemorrhage; Humans; Porencephaly
PubMed: 34148964
DOI: 10.2169/internalmedicine.7446-21 -
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 -
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 -
Italian Journal of Pediatrics Oct 2014The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still... (Review)
Review
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.
Topics: Child, Preschool; Diagnosis, Differential; Humans; Hydranencephaly; Hydrocephalus; Porencephaly
PubMed: 25326191
DOI: 10.1186/s13052-014-0079-1 -
Revista de Neurologia May 2011
Topics: Brain; Brain Diseases; Collagen Type IV; Hemiplegia; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Porencephaly
PubMed: 21488010
DOI: No ID Found -
Methods in Cell Biology 2018Collagen IV is a major constituent of basement membranes, specialized form of extracellular matrix that provides a mechanical support for tissues, serves as a polyvalent...
Collagen IV is a major constituent of basement membranes, specialized form of extracellular matrix that provides a mechanical support for tissues, serves as a polyvalent ligand for cell adhesion receptors and as a scaffold for other proteins, and plays a key role in tissue genesis, differentiation, homeostasis, and remodeling. Collagen IV underlies the pathogenesis of several human disorders including Goodpasture's disease, Alport's syndrome, diabetic nephropathy, angiopathy, and porencephaly. While the isolation of the collagen IV molecules from tissues is an ultimate prerequisite for structural and functional studies, it has been always hampered by the protein insolubility due to extensive intermolecular crosslinking and noncovalent associations with other components of basement membranes. In this chapter, we present methods for the isolation of collagen IV fragments from basement membranes or from extracellular matrix deposited by cultured cells, and the recombinant expression alternative. These methods are useful to address the fundamental questions on the role of collagen IV in tissue genesis under the normal and pathological conditions.
Topics: Animals; Basement Membrane; Cells, Cultured; Collagen Type IV; Collagenases; Extracellular Matrix; Humans; Morphogenesis; Pepsin A; Protein Domains; Recombinant Proteins; Solubility
PubMed: 29310777
DOI: 10.1016/bs.mcb.2017.08.010