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Indian Pediatrics May 1989
Topics: Brain Diseases; Cysts; Encephalomalacia; Humans; Infant; Infant, Newborn; Male; Meningitis
PubMed: 2599620
DOI: No ID Found -
Brain & Development Dec 1999
Topics: Child, Preschool; Female; Humans; Infant; Nervous System Malformations; Spasms, Infantile
PubMed: 10598061
DOI: 10.1016/s0387-7604(99)00060-1 -
BMJ Case Reports Feb 2024Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial...
Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at his well-child check. Referral to neurology and a subsequent MRI demonstrated porencephaly and ocular lens abnormalities. Genetic sequencing uncovered a mutation to the COL4A1 gene, suggesting Gould syndrome. There are no family members with similar phenotypes. Mutations to the COL4A1 and COL4A2 genes result in disruption of collagen found in most basement membranes, resulting in a variety of phenotypes that can make diagnosis difficult. Genetic identification of these patients is critical as these patients require a multidisciplinary approach to care and specific counselling on risk reduction techniques.
Topics: Infant; Humans; Male; Porencephaly; Collagen Type IV; Mutation; Basement Membrane; Phenotype; Family
PubMed: 38355202
DOI: 10.1136/bcr-2023-259103 -
Asian Journal of Psychiatry Dec 2020
Topics: Brain; Capgras Syndrome; Delusions; Humans; Porencephaly
PubMed: 32653846
DOI: 10.1016/j.ajp.2020.102289 -
Frontiers in Surgery 2024Porencephaly (POR) is an exceedingly rare neurological disorder characterized by the presence of solitary or multiple regressive cerebrospinal fluid (CSF) cavities...
Porencephaly (POR) is an exceedingly rare neurological disorder characterized by the presence of solitary or multiple regressive cerebrospinal fluid (CSF) cavities within the brain parenchyma. Currently, there is a limited understanding of the pathogenesis and treatment options for this condition, and clinical presentations can vary significantly. However, imaging plays a crucial role in diagnosis and determining the optimal treatment strategy, necessitating individualized comprehensive treatment upon detection. We reported a 25-year-old male case with persistent head pain that did not resolve with rest. Magnetic resonance imaging (MRI) confirmed the giant POR, and we finally performed a ventriculoperitoneal shunt, and the symptoms of intracranial hypertension were relieved after surgery.
PubMed: 38708364
DOI: 10.3389/fsurg.2024.1389050 -
The Journal of Nervous and Mental... Dec 1948
Topics: Epilepsy; Humans; Porencephaly
PubMed: 18106819
DOI: 10.1097/00005053-194810860-00005 -
Canadian Journal of Ophthalmology.... Oct 2019
Topics: Abnormalities, Multiple; Female; Hemianopsia; Humans; Magnetic Resonance Imaging; Middle Aged; Occipital Lobe; Porencephaly; Tomography, Optical Coherence; Visual Acuity; Visual Fields
PubMed: 31564367
DOI: 10.1016/j.jcjo.2019.01.012 -
American Journal of Medical Genetics.... Apr 2016Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability,...
Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. Families with mutations in COL4A2 are now emerging with a similar phenotype. We describe a family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities, which was negative for mutations in COL4A1. Using whole exome sequencing of three affected individuals from three generations, we identified a rare variant in COL4A2. This COL4A2 (c.2399G>A, p.G800E, CCDS41907.1) variant was predicted to be damaging by multiple bioinformatics tools and affects an invariable glycine residue that is essential for the formation of collagen IV heterotrimers. The cataracts identified in this family expand the phenotypic spectrum associated with mutations in COL4A2 and highlight the increasing overlap with phenotypes associated with COL4A1 mutations.
Topics: Adolescent; Adult; Aged; Brain; Cataract; Collagen Type IV; Exome; Female; Genes, Dominant; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Porencephaly
PubMed: 26708157
DOI: 10.1002/ajmg.a.37527 -
Brain & Development 1989Four autopsy cases of porencephaly and hydranencephaly were evaluated clinico-pathologically. The patients showed profound mental retardation, convulsive seizures and...
Four autopsy cases of porencephaly and hydranencephaly were evaluated clinico-pathologically. The patients showed profound mental retardation, convulsive seizures and spastic quadriplegia. The life spans were much shorter in the hydranencephalic cases. Pathologically, the cerebral cortex in the vicinity of the parenchymal defects often showed an abnormal cytoarchitecture, which appeared to be closely correlated with superficial glial proliferation. Several neurofibrillary tangles were found in the nucleus basalis of Meynert and the locus ceruleus in a 23-year-old porencephalic patient, and so-called grumose degeneration of the dentate nucleus in three patients, including a 2-month-old hydranencephalic boy. It is suggested that extensive cerebral defects may cause neuronal degeneration of the subcortical nuclei.
Topics: Adult; Anencephaly; Brain; Brain Diseases; Cerebral Cortex; Female; Humans; Hydranencephaly; Infant; Intellectual Disability; Male; Neurofibrils; Quadriplegia; Seizures
PubMed: 2923267
DOI: 10.1016/s0387-7604(89)80009-9 -
Archives of Disease in Childhood Jun 1989Five children with prenatal intracerebral damage associated with neonatal isoimmune thrombocytopenic purpura are described, and characteristic neurological features...
Five children with prenatal intracerebral damage associated with neonatal isoimmune thrombocytopenic purpura are described, and characteristic neurological features listed. These include optic hypoplasia which has not been previously documented in this condition.
Topics: Brain; Humans; Infant, Newborn; Intellectual Disability; Optic Nerve; Purpura, Thrombocytopenic; Rh Isoimmunization; Vision Disorders
PubMed: 2505691
DOI: 10.1136/adc.64.6.858