446 results match your criteria Schizencephaly Imaging


Schizencephaly: A Review of 734 Patients.

Pediatr Neurol 2018 Oct 8;87:23-29. Epub 2018 Aug 8.

Pediatric Oncology Institute/GRAACC, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.

Background: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited.

Methods: We conducted a literature review and extracted data from the case reports. Read More

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October 2018
1 Read

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

Eur J Paediatr Neurol 2018 Sep 11. Epub 2018 Sep 11.

Departments of Child Health, Obstetrics and Gynaecology and Radiology, University Hospital Southampton, United Kingdom; Clinical and Experimental Sciences, University of Southampton, United Kingdom.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Read More

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September 2018
2 Reads

Incongruent hemiatrophy and hemiparkinsonism in a patient with schizencephaly.

Clin Neurol Neurosurg 2018 Dec 25;175:106-107. Epub 2018 Oct 25.

Department of Neurology, Kyung Hee University Hospital, 23, Kyungheedae-ro, Dongdaemun-gu, 02447 Seoul, Republic of Korea; Department of Neurology, College of Medicine, Kyung Hee University, 23, Kyungheedae-ro, Dongdaemun-gu, 02447 Seoul, Republic of Korea. Electronic address:

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December 2018

Maldevelopment of Sylvian fissure as an early sonographic sign of malformations of cortical development.

Ultrasound Obstet Gynecol 2018 Oct 31. Epub 2018 Oct 31.

Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong SAR.

Objectives: To evaluate Sylvian fissure development by assessing Sylvian fissure angles in cases with malformations of cortical development (MCD).

Methods: This was a retrospective study of 22 cases of MCD. 7/22 cases had extracranial abnormalities such as cardiac, renal, gastrointestinal and/or digital anomalies, and 5/22 had minor abnormalities such as micrognathia, lowset ear and single umbilical artery. Read More

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October 2018
1 Read

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed to clarify the phenotypic spectrum of COL4A1/A2 mutations in the context of cortical malformations that include schizencephaly, polymicrogyria and/or heterotopia.

Methods: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. Read More

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December 2018
8 Reads

A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits.

J Neurosci Rural Pract 2018 Jul-Sep;9(3):404-405

Department of Medicine - Division of Neurology, St. George Hospital University Medical Center, University of Balamand, Lebanon.

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August 2018
5 Reads

Schizencephaly revisited.

Authors:
Paul D Griffiths

Neuroradiology 2018 Sep 19;60(9):945-960. Epub 2018 Jul 19.

Academic Unit of Radiology, University of Sheffield, Floor C, Glossop Road, Sheffield, England, S10 2JF, UK.

Purpose: In this paper, I will report the range of appearances of schizencephaly in children and fetuses by reviewing a 10-year experience from a single centre and detail classification systems for the different forms of schizencephaly. This will lead to re-assessment of possible aetiological and mechanistic causes of schizencephaly.

Methods: All cases of pediatric and fetal schizencephaly were located on the local database between 2007 and 2016 inclusive. Read More

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September 2018
6 Reads

A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly.

Anaesth Crit Care Pain Med 2018 Jul 31. Epub 2018 Jul 31.

Pole of anesthesia resuscitation and emergencies, Military Hospital Moulay Ismail, Meknès, Morocco.

Schizencephaly is an anomaly of the subtotal brain development, which occurs as the presence of a cleft lined with grey matter extending from subarachnoid space to the ventricles. It may be manifested by psychomotor retardation, paresis or partial seizures and drug-resistant convulsions. The clinical expression of schizencephaly depends on the bilaterality of the slit, its size and its seat. Read More

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July 2018
11 Reads

Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature.

Clin EEG Neurosci 2018 Jun 1:1550059418781119. Epub 2018 Jun 1.

1 National Institute of Mental Health, Klecany, Topolová 748, Czech Republic.

Objectives: Although schizencephaly belongs to the class of neurodevelopmental disorders, which are a well-known predisposing factor for psychosis, there is a lack of relevant studies and diagnostic guidelines on this relationship.

Method: A case report of first-episode psychosis with persistent negative symptoms associated with schizencephaly is described and compared with 7 other cases found in the literature.

Results: We found perinatal pathology, cognitive deficit, and EEG abnormality in a patient with atypical initial symptoms of psychosis such as olfactory hallucinations. Read More

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June 2018
13 Reads

[Disorders of migration and gyration].

Authors:
I Pogledic

Radiologe 2018 Jul;58(7):653-658

Universitätsklinik für Radiologie und Nuklearmedizin, Klinische Abteilung für Neuroradiologie und Muskuloskeletale Radiologie, Medizinische Universität Wien, Währinger Gürtel 18-20, 1090, Wien, Österreich.

Disorders of migration and gyration are a versatile group of pathologies that may cause epilepsy and/or neurodevelopmental delay. With the recent improvement of imaging methods, it is possible to detect these pathologies, not only on postnatal MRI but also in utero using fetal MRI. The use of MRI together with genetic tests and knowledge of the classification of these malformations makes early diagnosis possible. Read More

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July 2018
1 Read

Novel mutation in a fetus with early prenatal onset of schizencephaly.

Hum Genome Var 2018 24;5. Epub 2018 Apr 24.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Porencephaly and schizencephaly are congenital brain disorders that can be caused by mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in (c.2645_2646delinsAA, p. Read More

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April 2018
1 Read

Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.

Clin Neuroradiol 2018 Apr 16. Epub 2018 Apr 16.

Department of Radiology, University of Minnesota Medical Center, MMC 292, B‑212 Mayo, 420 DelawareStreet SE, 55455, Minneapolis, MN, USA.

Purpose: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study.

Methods: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI). Read More

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April 2018
4 Reads

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.

Yonago Acta Med 2017 Dec 5;60(4):241-245. Epub 2018 Feb 5.

Division of Reproductive-Perinatal Medicine and Gynecologic Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan.

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. Read More

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December 2017
2 Reads

Schizencephaly in children: A single medical center retrospective study.

Pediatr Neonatol 2018 Dec 6;59(6):573-580. Epub 2018 Jan 6.

Division of Neuroradiology, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taoyuan, Taiwan.

Background: The aim of this study was to evaluate the clinical, and neuroimaging features, outcomes, and other associated systemic disorders in children with schizencephaly at a single medical center in Taiwan.

Methods: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of children with schizencephaly between January 2000 and December 2014. The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. Read More

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December 2018
6 Reads

A rare case of schizencephaly in an adult with late presentation.

J Family Med Prim Care 2017 Apr-Jun;6(2):450-452

Department of Oral Medicine and Radiology, VSPM Dental College and Research Centre, Nagpur, Maharashtra, India.

Schizencephaly, i.e., split brain, is a rare, congenital cerebral malformation. Read More

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January 2018
5 Reads

Neuronal Migration Disorders.

Authors:
Benjamin Roberts

Radiol Technol 2018 Jan;89(3):279-295

Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. Read More

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January 2018
4 Reads

and fetal vascular origins of schizencephaly.

Neurology 2018 Jan 27;90(5):232-234. Epub 2017 Dec 27.

From Children's Mercy Hospital and Clinics (R.K.), Kansas City, MO; and The Hospital for Sick Children (P.K., K.A., S.B., S.M., M.M., N.D.), Toronto, Canada.

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January 2018
9 Reads

Stereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study.

Ann Neurol 2017 Nov 11;82(5):781-794. Epub 2017 Nov 11.

Research Center for Automatic Control of Nancy (CRAN), University of Lorraine, CNRS, UMR 7039, Vandoeuvre, France.

Objective: We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy.

Methods: We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy.

Results: Mean age at SEEG or surgery was 28. Read More

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November 2017
15 Reads

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.

Korean J Pediatr 2017 Sep 21;60(9):282-289. Epub 2017 Sep 21.

Korea Clinical Laboratory, Molecular Diagnostics Team, Seoul, Korea.

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.

Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Read More

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September 2017
2 Reads

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.

Radiol Case Rep 2017 Sep 27;12(3):602-605. Epub 2017 May 27.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA.

The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. Read More

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September 2017
6 Reads

Functional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia.

J Neurol Sci 2017 Jul 10;378:167-169. Epub 2017 May 10.

C2S Laboratory (EA 6291), University of Reims Champagne-Ardenne, Reims, France; Department of Adult Psychiatry, Robert Debré Hospital, Reims University Hospital, Reims, France.

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July 2017
8 Reads

Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.

Pediatr Neurol 2017 Jun 8;71:29-34. Epub 2017 Feb 8.

Department of Biotechnology, Gauhati University, Guwahati, Assam, India.

Purpose: Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair.

Materials & Methods: Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects. Read More

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June 2017
17 Reads

Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.

J Child Neurol 2017 08 8;32(9):797-803. Epub 2017 May 8.

2 Departments of Pediatrics, Neurology, and Neurosurgery, McGill University, Montreal, Quebec, Canada.

We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias. Read More

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August 2017
15 Reads

Imaging of Laser Therapy in Epilepsy.

J Neuroimaging 2017 05 29;27(3):292-299. Epub 2017 Mar 29.

Department of Neurology, Epilepsy Section, University of Colorado Denver School of Medicine, Aurora, CO.

Background And Purpose: MR-guided laser interstitial thermal therapy (MRgLITT) is an increasingly popular neuroablative method for the surgical treatment of epilepsy patients. This article intends to demonstrate the utility and pitfalls of imaging in the context of patient care with MRgLITT.

Material And Methods: A retrospective review of the medical records and imaging database with six illustrative cases selected to demonstrate the use of imaging throughout patient management with MRgLITT in diverse clinical situations and pathologies. Read More

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May 2017
4 Reads

Severe Neurologic Disorders in 2 Fetuses with Zika Virus Infection, Colombia.

Emerg Infect Dis 2017 06 15;23(6):982-984. Epub 2017 Jun 15.

We report the results of pathologic examinations of 2 fetuses from women in Colombia with Zika virus infection during pregnancy that revealed severe central nervous system defects and potential associated abnormalities of the eye, spleen, and placenta. Amniotic fluid and tissues from multiple fetal organs tested positive for Zika virus. Read More

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June 2017
6 Reads

Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.

Neuropediatrics 2017 Apr 23;48(2):119-122. Epub 2017 Jan 23.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

 Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported.  The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly. Read More

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April 2017
7 Reads

Teaching NeuroImages: Homotopic motor distribution on fMRI in closed-lip schizencephaly.

Neurology 2017 01;88(2):e24-e25

From the Center for Neuroscience and Behavioral Medicine (L.B., A.K., A.Z., W.D.G.) and the Division of Diagnostic Imaging and Radiology (J.G.M.), Children's National Health System, The George Washington University, Washington, DC.

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January 2017
6 Reads

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Eur J Med Genet 2017 Mar 23;60(3):169-171. Epub 2016 Dec 23.

Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. Electronic address:

Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. Read More

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March 2017
1 Read

Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience.

Iran J Pediatr 2016 Aug 6;26(4):e4589. Epub 2016 Jun 6.

Department of Obstetrics and Gynecology, Shiraz University of Medical Sciences, Shiraz, IR Iran.

Background: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society.

Objectives: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. Read More

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August 2016
9 Reads

New-Onset Seizure Associated With Schizencephaly.

J Emerg Med 2017 Mar 8;52(3):e81-e82. Epub 2016 Oct 8.

Department of Emergency Medicine, Staten Island University Hospital, Northwell Health, Staten Island, New York.

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March 2017
8 Reads

Tadpole-shaped lateralized parietal atretic cephalocele associated with an ipsilateral lacrimal gland fistula and schizencephalic clefts.

Childs Nerv Syst 2017 Feb 4;33(2):363-367. Epub 2016 Oct 4.

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Background: Parietal atretic cephalocele (AC) and its associated intracranial venous anomalies, such as vertical embryonic positioning of the straight sinus (VEP of SS), have, in previous reports, been exclusively restricted to the midline.

Clinical Presentation: We report a patient with lateralized parietal AC on the right side. The AC was in the shape of a tadpole, with a large head and a long tail, extending to the proximity of the right external canthus, where a lacrimal gland fistula was observed. Read More

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February 2017
9 Reads

Cortical Clefts and Cortical Bumps: A Continuous Spectrum.

J Clin Diagn Res 2016 Jul 1;10(7):TD01-2. Epub 2016 Jul 1.

Specialist Grade I, Indira Gandhi Government General Hospital and Post Graduate Institute , Puducherry, India .

Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Read More

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July 2016
2 Reads

Bilateral giant open-lip schizencephaly: A rare case report.

J Pediatr Neurosci 2016 Apr-Jun;11(2):128-30

Department of Neurosurgery, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India.

Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. Read More

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September 2016
4 Reads

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.

Pediatr Neurol 2016 10 10;63:23-38. Epub 2016 May 10.

Department of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. Read More

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October 2016
10 Reads

Successful hemispherotomy for a patient with intractable epilepsy secondary to bilateral congenital brain malformation with lateralized pyramidal tract of diffusion tensor image tractography.

Epilepsy Behav Case Rep 2016 11;6:30-2. Epub 2016 Feb 11.

Seirei Hamamatsu General Hospital, Comprehensive Epilepsy Center, Japan.

Purpose: To perform an epilepsy surgery on a patient with drug resistant epilepsy secondary to bilateral brain malformation. The patient was a 2-year 9-month-old boy who had congenital bilateral multiple abnormalities. He developed a complex partial seizure at 9 months old. Read More

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July 2016
10 Reads

The pathology of incipient polymicrogyria.

Brain Dev 2017 Jan 9;39(1):23-39. Epub 2016 Jul 9.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada; Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Objective: To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus.

Methods: We identified and reviewed the clinical histories and autopsy pathology of post ischemic fetal cerebral cortical injury at less than 30weeks gestational age (GA). The histology of local cortical abnormalities was examined with neuronal, glial, microglial and vascular immunohistochemical markers. Read More

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January 2017
8 Reads

Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.

Authors:
Debopam Samanta

Acta Neurol Belg 2017 03 27;117(1):403-404. Epub 2016 May 27.

Department of Pediatrics, Division of Child Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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March 2017
4 Reads

"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum.

Authors:
Samhita Panda

Neurol India 2016 May-Jun;64(3):579-81

Department of Neurophysiology, Sir Ganga Ram Hospital, New Delhi, India.

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November 2018

Schizencephaly: A case report and review of literature.

Niger Postgrad Med J 2016 Jan-Mar;23(1):38-40

Department of Radiology, University of Port Harcourt Teaching Hospital and University of Port Harcourt, Port Harcourt, Rivers State, Nigeria.

Schizencephaly is a congenital condition characterized by cerebrospinal fluid-filled clefts that extend from the pia surface of the cerebral hemisphere to the ependymal surface of the ventricle. Magnetic resonance imaging is the modality of choice for its diagnosis. Very few cases have been described in the literature in this environment. Read More

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August 2018
3 Reads

Scalp Arteriovenous Malformation with Concomitant, Flow-Dependent Malformation and Aneurysm.

World Neurosurg 2016 Jun 25;90:708.e5-708.e9. Epub 2016 Mar 25.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA. Electronic address:

Background: Scalp arteriovenous malformations (sAVMs) are well-described congenital abnormalities for which co-occurrence with other vascular pathologies significantly alters management strategies. The authors describe a case in which congenital sAVM was found with concomitant intracranial, flow-dependent vascular malformation and schizencephalic developmental anomaly.

Case Description: A 21-year-old man presented with a right-sided bruit and an enlarging palpable, pulsatile scalp mass. Read More

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June 2016
8 Reads

Successful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review.

Neurol Sci 2016 Jul 10;37(7):1079-88. Epub 2016 Mar 10.

Department of Neurosurgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.

Schizencephaly is a rare malformation of cortical development resulting from cell migration defects that occur unilaterally or bilaterally. The type of the schizencephalic cleft can be open lip or closed lip. Patients suffering from refractory seizures secondary to schizencephaly should be considered for surgical treatment. Read More

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July 2016
8 Reads

Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly.

Case Rep Ophthalmol 2016 Jan-Apr;7(1):16-20. Epub 2016 Jan 8.

Ophthalmology Department, Leiria Hospital Center, Leiria, Portugal.

Purpose: To report a case of a 56-year-old male with right homonymous hemianopia.

Methods: Retrospective descriptive study of a case report based on information from clinical records, patient observation and analysis of complementary diagnostic tests.

Results: An asymptomatic 56-year-old male presented to our hospital for a routine ophthalmic examination. Read More

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February 2016
1 Read

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Birth Defects Res A Clin Mol Teratol 2016 Apr 16;106(4):304-7. Epub 2016 Feb 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.

Background: A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy.

Methods: TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband.

Results: Chromosomal analysis and array-CGH showed no aberration. Read More

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April 2016
4 Reads

Astrocyte membrane properties are altered in a rat model of developmental cortical malformation but single-cell astrocytic glutamate uptake is robust.

Neurobiol Dis 2016 May 10;89:157-68. Epub 2016 Feb 10.

Department of Neuroscience, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02111, USA; Neuroscience Program, Tufts Sackler School of Biomedical Sciences, 136 Harrison Avenue, Boston, MA 02111, USA.

Developmental cortical malformations (DCMs) are linked with severe epilepsy and are caused by both genetic and environmental insults. DCMs include several neurological diseases, such as focal cortical dysplasia, polymicrogyria, schizencephaly, and others. Human studies have implicated astrocyte reactivity and dysfunction in the pathophysiology of DCMs, but their specific role is unknown. Read More

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May 2016
3 Reads

Epileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients.

Seizure 2016 Feb 15;35:88-92. Epub 2016 Jan 15.

Department of Neurology, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.

Objective: We analyzed the electroclinical features, etiology, treatment, and outcome of 12 patients with West syndrome (WS) associated with focal hypsarrhythmia (FH).

Methods: Between February 2005 and July 2013, 12 patients met the electroclinical diagnostic criteria of WS associated with FH. Hypsarrhythmia was considered to be focal when two or three brain lobes were involved. Read More

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February 2016

Surgical management of medically refractory epilepsy in patients with polymicrogyria.

Epilepsia 2016 Jan 9;57(1):151-61. Epub 2015 Dec 9.

Department of Neurological Surgery, UCSF Comprehensive Epilepsy Center, University of California, San Francisco, California, U.S.A.

Objective: Polymicrogyria (PMG) is a malformation of cortical development characterized by formation of an excessive number of small gyri. Sixty percent to 85% of patients with PMG have epilepsy that is refractory to medication, but surgical options are usually limited. We characterize a cohort of patient with polymicrogyria who underwent epilepsy surgery and document seizure outcomes. Read More

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January 2016
12 Reads
4.571 Impact Factor

Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.

J Med Ultrason (2001) 2015 Jul 18;42(3):445-6. Epub 2015 Jan 18.

Department of Obstetrics and Gynecology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

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July 2015
6 Reads

ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.

Authors:

Magn Reson Med Sci 2015 ;14(4):373

Reason for correction: There is an error of the year of publication.Details: We have to correct the issue year from 2014 to 2015. Read More

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February 2016
2 Reads

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Pediatr Neurol 2016 Jan 28;54:39-42.e1. Epub 2015 Aug 28.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address:

Background: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011.

Methods: We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. Read More

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January 2016
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