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Journal of Community Hospital Internal... 2018We present a case of a 56-year-old male with a history of perinatal intracerebral hemorrhage who presented to the emergency department after a witnessed new-onset...
We present a case of a 56-year-old male with a history of perinatal intracerebral hemorrhage who presented to the emergency department after a witnessed new-onset generalized tonic-clonic seizure. Computerized tomography and magnetic resonance imaging of the head revealed a large frontal lobe porencephalic cyst, with encephalomalacia in the right parietal lobe and temporal lobe (the patient did not have any prior cranial imaging). The patient has subsequently remained seizure-free on levetiracetam. Porencephalic cyst is a rare condition of cerebrospinal fluid accumulation in the brain parenchyma that is usually related to perinatal vascular events. These cysts can have a wide array of clinical presentations. This can include partial or generalized seizures, which are usually managed by antiepileptics.
PubMed: 29686797
DOI: 10.1080/20009666.2018.1454788 -
Brain & Development Aug 2018We describe two cases of refractory epilepsy with cerebral hemiatrophy and contralateral electroencephalographic (EEG) abnormalities, in which hemispherotomy of the...
We describe two cases of refractory epilepsy with cerebral hemiatrophy and contralateral electroencephalographic (EEG) abnormalities, in which hemispherotomy of the atrophic hemisphere effectively controlled seizures. Case 1 was a 5-year-1-month-old girl with refractory bilateral asymmetrical tonic posturing seizures predominantly in the right arm. Magnetic resonance imaging showed left porencephaly corresponding to a left middle cerebral artery infarction. Case 2 was a 3-year-8-month-old boy with refractory bilateral asymmetrical tonic posturing seizures predominantly in the right arm due to atrophy of the left cerebral hemisphere after septic meningitis. Both patients had right hemiparesis and was incapable of pinching by the right hand. Contralateral interictal and ictal EEG abnormalities were observed. Interictal Tc-ethyl cysteinate dimer (Tc-ECD) single photon emission computed tomography (SPECT) showed hypoperfusion and ictal Tc-ECD-SPECT showed hyperperfusion within the left cerebral hemisphere. Left hemispherotomy was performed. Cases 1 and 2 remained seizure-free at the last follow-up 18 months and 15 months, respectively, after surgery, and contralateral interictal EEG abnormalities disappeared. In patients with cerebral hemiatrophy and contralateral EEG abnormalities, epilepsy surgery may be considered when the laterality of seizure semiology, functional imaging findings and motor deficits were concordant with the atrophic side. Ictal SPECT is effective to confirm the epileptogenic hemisphere.
Topics: Atrophy; Brain; Child, Preschool; Cysteine; Drug Resistant Epilepsy; Electroencephalography; Female; Functional Laterality; Hemispherectomy; Humans; Male; Organotechnetium Compounds; Radiopharmaceuticals; Tomography, Emission-Computed, Single-Photon
PubMed: 29550191
DOI: 10.1016/j.braindev.2018.02.014 -
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 -
Child's Nervous System : ChNS :... Apr 2018Porencephalic cysts and cerebrospinal fluid (CSF) edema around the intracranial shuntcatheter are rare complications of ventriculoperitoneal shunt (VPS) surgery.... (Review)
Review
INTRODUCTION
Porencephalic cysts and cerebrospinal fluid (CSF) edema around the intracranial shuntcatheter are rare complications of ventriculoperitoneal shunt (VPS) surgery. Possible mechanisms leading to a porencephalic cyst formation in a patient with a VPS include taut ventricle, dysfunction of distalcatheters, and irreversible damage to the brain parenchyma caused by shunt insertion, chemotherapy, or radiation. Most of the previous reports were due to shunt malfunction and treatment consisted of shunt revision or removal.
CASE REPORT
We present a case of porencephalic cyst formation in a 6-year-old female as a result ofcerebrospinal fluid under-drainage that was promptly improved with shunt valve adjustment.
COCLUSIONS
A heightened index of suspicion is required to prevent misdiagnosis of porencephalic cysts astumors or abscesses that may lead to unnecessary surgical explorations. Further research is needed toelucidate the pathophysiological mechanism that causes a porencephalic cyst formation.
Topics: Cerebrospinal Fluid; Child; Cysts; Female; Humans; Porencephaly; Ventriculoperitoneal Shunt
PubMed: 29380111
DOI: 10.1007/s00381-018-3725-x -
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 -
Current Opinion in Virology Dec 2017Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally... (Review)
Review
Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally occurring teratogenic central nervous system and/or musculoskeletal defects (arthrogryposis) in domestic animals. Congenital infections of ruminant livestock with bluetongue virus (BTV) and some related members of the genus Orbivirus (family Reoviridae) have clearly shown the critical role of gestational age at infection in determining outcome. Specifically, fetuses infected prior to mid-gestation that survive congenital BTV infection are born with cavitating central nervous system defects that range from severe hydranencephaly to cerebral cysts (porencephaly). Generally, the younger the fetus (in terms of gestational age) at infection, the more severe the teratogenic lesion at birth. Age-dependent virus infection and destruction of neuronal and/or glial cell precursors that populate the developing central nervous system are responsible for these naturally occurring virus-induced congenital defects of animals, thus lesions are most severe when progenitor cells are infected prior to their normal migration during embryogenesis. Whereas congenital infection is characteristic of certain BTV strains, notably live-attenuated (modified-live) vaccine viruses that have been passaged in embryonating eggs, transplacental transmission is not characteristic of many field strains of the virus and much remains to be determined regarding the genetic determinants of transplacental transmission of individual virus strains.
Topics: Age Factors; Animals; Bluetongue; Bluetongue virus; Congenital Abnormalities; Female; Gestational Age; Infectious Disease Transmission, Vertical; Livestock; Orbivirus; Pregnancy; Reoviridae Infections; Ruminants; Sheep; Teratogens; Virus Diseases
PubMed: 29107849
DOI: 10.1016/j.coviro.2017.10.002 -
Veterinary Microbiology Nov 2017Schmallenberg virus (SBV) is an emerging virus responsible for congenital malformations in the offspring of domestic ruminants. It is speculated that infection of...
Schmallenberg virus (SBV) is an emerging virus responsible for congenital malformations in the offspring of domestic ruminants. It is speculated that infection of pregnant dams may also lead to a significant number of unrecognized fetal losses during the early period of gestation. To assess the pathogenic effects of SBV infection of goats in early pregnancy, we inoculated dams at day 28 or 42 of gestation and followed the animals until day 55 of gestation. Viremia in the absence of clinical signs was detected in all virus-inoculated goats. Fetal deaths were observed in several goats infected at day 28 or 42 of gestation and were invariably associated with the presence of viral genomic RNA in the affected fetuses. Among the viable fetuses, two displayed lesions in the central nervous system (porencephaly) in the presence of viral genome and antigen. All fetuses from goats infected at day 42 and the majority of fetuses from goats infected at day 28 of gestation contained viral genomic RNA. Viral genome was widely distributed in these fetuses and their respective placentas, and infectious virus could be isolated from several organs and placentomes of the viable fetuses. Our results show that fetuses of pregnant goats are susceptible to vertical SBV infection during early pregnancy spanning at least the period between day 28 and 42 of gestation. The outcomes of experimental SBV infection assessed at day 55 of gestation include fetal mortalities, viable fetuses displaying lesions of the central nervous system, as well as viable fetuses without any detectable lesion.
Topics: Animals; Bunyaviridae Infections; Female; Fetus; Goat Diseases; Goats; Orthobunyavirus; Placenta; Pregnancy; Viremia
PubMed: 29102110
DOI: 10.1016/j.vetmic.2017.10.011 -
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 -
The Neurologist Jul 2017Major surgery in the past 14 days is a relative contraindication to treatment of acute stroke with intravenous (IV) alteplase. The 2016 American Heart...
INTRODUCTION
Major surgery in the past 14 days is a relative contraindication to treatment of acute stroke with intravenous (IV) alteplase. The 2016 American Heart Association/American Stroke Association scientific statement discussing inclusion and exclusion criteria for alteplase in acute stroke allows for provider judgment citing a lack of evidence to support surgery as an absolute contraindication.
CASE REPORT
A 59-year-old woman presented with acute left hemiparesis, dysarthria, and acute respiratory failure. National Institutes of Health Stroke Scale was 17. Two days prior she underwent abdominoplasty and liposuction. Computed tomography angiogram of the head demonstrated acute occlusion of right M2, and computed tomography angiogram of the chest was positive for bilateral pulmonary emboli. After urgent consultation with the plastic surgery and neurosurgery teams, the patient was treated with IV alteplase followed by cerebral mechanical thrombectomy. This was complicated by surgical-site hemorrhage in the abdomen requiring operative intervention. Abdominal hemorrhage was controlled and the patient showed remarkable neurological recovery, later being discharged with no residual neurological deficits.
CONCLUSIONS
Interdisciplinary collaboration can successfully inform the decision to treat acute ischemic stroke with IV alteplase in the setting of recent major surgery.
Topics: Abdominoplasty; Female; Fibrinolytic Agents; Humans; Leukoencephalopathies; Mechanical Thrombolysis; Middle Aged; Porencephaly; Postoperative Hemorrhage; Retinal Artery; Retinal Hemorrhage; Stroke; Tissue Plasminogen Activator
PubMed: 28644260
DOI: 10.1097/NRL.0000000000000139 -
Clinical Genetics Oct 2017Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we...
Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first-degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co-existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas.
Topics: Arthritis, Juvenile; Bone Diseases, Developmental; Brain; Collagen; Collagen Type IV; Craniofacial Abnormalities; Female; Heterozygote; Humans; Hyperostosis; Hypertelorism; Male; Mutation; Pedigree; Phenotype; Porencephaly
PubMed: 28542708
DOI: 10.1111/cge.13016