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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 -
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 -
Case Reports in Neurological Medicine 2017Porencephaly is an extremely rare neurological disease characterized by the presence of solitary or multiple degenerative cerebrospinal fluid (CSF) cavities within the...
BACKGROUND
Porencephaly is an extremely rare neurological disease characterized by the presence of solitary or multiple degenerative cerebrospinal fluid (CSF) cavities within the brain parenchyma.
CASE REPORT
We describe a case involving a 23-year-old male who presented with involuntary movements of the left upper limb of 6 months' duration. A diagnosis of porencephaly was confirmed by magnetic resonance imaging (MRI).
CONCLUSION
The rarity of occurrence and atypical presentation of such a lesion present a challenge to clinicians. Little is known about the pathogenesis and appropriate management of porencephaly. Further studies of the implications of porencephaly for neurodevelopment and behavior are needed.
PubMed: 29057132
DOI: 10.1155/2017/2174045 -
Journal of Veterinary Internal Medicine Mar 2017The term meningoencephalocele (MEC) describes a herniation of cerebral tissue and meninges through a defect in the cranium, whereas a meningocele (MC) is a herniation of...
BACKGROUND
The term meningoencephalocele (MEC) describes a herniation of cerebral tissue and meninges through a defect in the cranium, whereas a meningocele (MC) is a herniation of the meninges alone.
HYPOTHESIS/OBJECTIVES
To describe the clinical features, magnetic resonance imaging (MRI) characteristics, and outcomes of dogs with cranial MC and MEC.
ANIMALS
Twenty-two client-owned dogs diagnosed with cranial MC or MEC.
METHODS
Multicentric retrospective descriptive study. Clinical records of 13 institutions were reviewed. Signalment, clinical history, neurologic findings and MRI characteristics as well as treatment and outcome were recorded and evaluated.
RESULTS
Most affected dogs were presented at a young age (median, 6.5 months; range, 1 month - 8 years). The most common presenting complaints were seizures and behavioral abnormalities. Intranasal MEC was more common than parietal MC. Magnetic resonance imaging identified meningeal enhancement of the protruded tissue in 77% of the cases. Porencephaly was seen in all cases with parietal MC. Cerebrospinal fluid (CSF) analysis identified mild abnormalities in 4 of 11 cases. Surgery was not performed in any affected dog. Seventeen patients were treated medically, and seizures were adequately controlled with anti-epileptic drugs in 10 dogs. Dogs with intranasal MEC and mild neurologic signs had a fair prognosis with medical treatment.
CONCLUSION AND CLINICAL IMPORTANCE
Although uncommon, MC and MEC should be considered as a differential diagnosis in young dogs presenting with seizures or alterations in behavior. Medical treatment is a valid option with a fair prognosis when the neurologic signs are mild.
Topics: Animals; Anticonvulsants; Cerebrospinal Fluid; Dog Diseases; Dogs; Encephalocele; Female; Magnetic Resonance Imaging; Male; Meningocele; Porencephaly; Retrospective Studies; Seizures; Treatment Outcome
PubMed: 28247440
DOI: 10.1111/jvim.14638 -
Oxford Medical Case Reports Jan 2017Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation...
A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.
Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly correlated with double twin demise. To our knowledge, there are no case reports on the natural course of a surviving co-twin in an MM twin pregnancy resulting in live birth after a single IUFD prior to 22 weeks of gestation. Here, we report a case of a surviving co-twin, after a single IUFD at 21 weeks of gestation in a MM twin pregnancy, with an antenatal diagnosis of renal hypoplasia and severe neurological damage leading to porencephaly, and live birth at 36 weeks of gestation.
PubMed: 28116109
DOI: 10.1093/omcr/omw096 -
Nephrology, Dialysis, Transplantation :... Nov 2016Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot...
BACKGROUND
Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts.
METHODS
We used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses.
RESULTS
We identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1. This mutation predicts truncation of the protein with disruption of the C-terminal part of the NC1 domain. We confirmed its presence in 20 family members, 17 with confirmed haematuria, 5 of whom also had stage 4 or 5 chronic kidney disease. Eleven family members exhibited kidney cysts (55% of those with the mutation), but muscle cramps or cerebral aneurysms were not observed and serum creatine kinase was normal in all individuals tested.
CONCLUSIONS
Missense mutations of COL4A1 that encode the CB3 [IV] segment of the triple helical domain (exons 24 and 25) are associated with HANAC syndrome (hereditary angiopathy, nephropathy, aneurysms and cramps). Missense mutations of COL4A1 that disrupt the NC1 domain are associated with antenatal cerebral haemorrhage and porencephaly, but not kidney disease. Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the α1 chain of type IV collagen is important in the integrity of glomerular basement membrane in humans.
Topics: Collagen Type IV; DNA; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Linkage; Genotype; Humans; Male; Nephritis, Hereditary; Pedigree; Polymerase Chain Reaction
PubMed: 27190376
DOI: 10.1093/ndt/gfw051 -
The Journal of Veterinary Medical... Dec 2016A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with...
A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with cerebrospinal fluid and extended to the right lateral ventricle. Swelling and displacement of the right hippocampal area were also observed. Histologic examination revealed no evidence of previous infarct lesions, hemorrhage, inflammation or invasive tumor cells. Observation of the defective part suggested a local circulatory disorder during the fetal stage, although the cause was not detected. No neurological symptoms that could enable a provisional diagnosis were observed during the course of his life. This is the first report of asymptomatic porencephaly in a fennec fox.
Topics: Animals; Cerebrum; Fatal Outcome; Foxes; Lymphoma, T-Cell; Male; Porencephaly
PubMed: 27523321
DOI: 10.1292/jvms.16-0121 -
Neurosciences (Riyadh, Saudi Arabia) Apr 2016
Topics: Humans; Male; Movement Disorders; Porencephaly; Transcranial Magnetic Stimulation; Young Adult
PubMed: 27094531
DOI: 10.17712/nsj.2016.2.20150674 -
Acta Veterinaria Scandinavica Sep 2015Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as... (Review)
Review
Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered.
Topics: Animals; Cattle; Cattle Diseases
PubMed: 26399846
DOI: 10.1186/s13028-015-0145-8