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Schizencephaly:     more detail

The Official Parent's Sourcebook on Schizencephaly: A Revised and Updated Directory for the Internet Age by ICON Health Publications, 2004-02-13 Schizencephaly: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Peter, MD Lin, 2005 The Official Parent's Sourcebook On Schizencephaly by Icon Health Publications, 2004

lists with details

1. NINDS Schizencephaly Information Page
   Information sheet compiled the National Institute of Neurological Disorders and Stroke.  
   http://www.ninds.nih.gov/health_and_medical/disorders/schizencephaly.htm
   
   Extractions: Schizencephaly is an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brain's cerebral hemispheres. Schizencephaly is a form of porencephaly in which there is a cyst or cavity in the cerebral hemispheres. Individuals with clefts in both hemispheres (bilateral clefts) are commonly developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in only one hemisphere) are often paralyzed on one side of the body and may have normal intelligence. Patients with schizencephaly may also have varying degrees of microcephaly (abnormally small head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis), and reduced muscle tone (hypotonicity). Most patients have seizures. Some may have hydrocephalus.

2. Pediatric Database
   A definition of schizencephaly, the epidemiology, pathogenesis, clinical features, investigations and management.  
   http://www.icondata.com/health/pedbase/files/SCHIZENC.HTM

3. Schizencephaly
   schizencephaly is an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brains cerebral hemispheres.  
   http://healthlink.mcw.edu/article/921961352.html
   
   Extractions: Subscribe now >> Schizencephaly is an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brain’s cerebral hemispheres. Schizencephaly is a form of porencephaly in which there is a cyst or cavity in the cerebral hemispheres. Individuals with clefts in both hemispheres (bilateral clefts) are commonly developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in only one hemisphere) are often paralyzed on one side of the body and may have normal intelligence. Patients with schizencephaly may also have varying degrees of microcephaly (abnormally small head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis), and reduced muscle tone (hypotonicity). Most patients have seizures. Some may have hydrocephalus. Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt (a surgically implanted tube that diverts fluid from one pathway to another).

4. Schizencephaly
   Schiz Kidz Buddies support group for children/persons with schizencephaly and their families and caregivers.  
   http://www.kumc.edu/gec/support/schizenc.html

5. Schizencephaly
   Professor Michel SIMONNEAU, molecular geneticist in our hospital, is completing a study about candidate genes which could be involved in schizencephalic syndromes.  
   http://www.waisman.wisc.edu/child-neuro/seekpt-f/schizen.html
   
   Extractions: Schizencephaly Professor Michel SIMONNEAU, molecular geneticist in our hospital, is completing a study about candidate genes which could be involved in schizencephalic syndromes. Colleagues interested to participate in this study could provide blood samples from schizencephalic patients. Any information concerning such a collaboration could be obtained from Michel SIMONNEAU, MD

6. WELCOME TO SCHIZ KIDZ BUDDIES!
   Welcome To SCHIZ KIDZ BUDDIES! This web site is provided for persons with schizencephalyand their parents, families, physicians, therapists,and friends.  
   http://www.geocities.com/Heartland/Meadows/7384/
   
   Extractions: Welcome To SCHIZ KIDZ BUDDIES! This web site is provided for persons with Schizencephaly and their parents, families, physicians, therapists,and friends. Schizencephaly is a rare developmental disorder characterized by abnormal clefts in the brain's cerebral hemispheres. Persons with Schizencephaly may present with varying degrees of developmental delays, seizures, delayed speech and language skill, vision and eating disorders. Many have normal intelligence. They may also have microcephaly (abnormally small head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis)and reduced muscle tone (hypotonicity). Some may have hydrocephalus. Schizencephaly occurs when there is a failure of the normal migration of neurons from the germinal matrix zone at 1-5 months of gestation. Some theories suggest that possible causes of this are in-utero stroke,early gestational viral infections,and recent Italian research has linked Schizencephaly with a mutated gene called the Homeobox gene EMX-2. If the gene EMX-2 is missing or defective, nerve cell growth and migration will not occur normally and this will lead to the formation of the 'clefts' associated with Schizencephaly. We are approximately 700+ families who communicate with each other through our daily EMAIL LIST. The Email List is the "heart" of Schiz Kidz Buddies.... we ask questions, air frustrations, share about our families and our children with Schizencephaly and in doing so gain invaluable support from others who "have been there".

7. Welcome To LeBaronFamily.com!
   Personal account about a daughter having Opitc Nerve Hypoplasia, SeptoOptic Dysplasia and had either a Congenital stroke or has schizencephaly.  
   http://www.lebaronfamily.com

8. Virtual Hospital: Radiology Resident Case Of The Week: Schizencephaly
   schizencephaly. Lorenzo Carson, MD Peer Review Status Internally Peer Reviewed. ACRCode 132.1423. Keywords 1. schizencephaly 2. clefts 3. brain malformations.  
   http://www.vh.org/pediatric/provider/radiology/PedRadSecTF/042696/
   
   Extractions: The cleft may be narrow or closed (type 1) or wide and open (type 2). It is frequently associated with complete or partial absence of the cavum septum pellucidum in approximately 80-90% of cases. The cleft is usually located near the pre- or postcentral gyri. The clefts can be unilateral or bilateral. Polymicrogyria, microcephaly, and gray matter heterotopia have also been noted. Optic nerve hypoplasia has been noted in 33% of cases, with possibility of blindness. Prognosis is poor, with severe intellectual impairment, spastic tetraplegia and blindness. Miscellaneous:

9. Schizencephaly
   schizencephaly is a rare developmental disorder characterized by abnormalslits, or clefts, in the cerebral hemispheres. schizencephaly  
   http://thecpnetwork.netfirms.com/schizencephaly.html
   
   Extractions: This site is hosted by Netfirms Web Hosting *~Schizencephaly~* Directory: Cephalic Disorders Home Anecephaly Cebocephaly ... Research SCHIZENCEPHALY is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly is a form of porencephaly. Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus. In schizencephaly, the neurons border the edge of the cleft implying a very early disruption in development. There is now a genetic origin for one type of schizencephaly. Causes of this type may include environmental exposures during pregnancy such as medication taken by the mother, exposure to toxins, or a vascular insult. Often there are associated heterotopias (isolated islands of neurons) which indicate a failure of migration of the neurons to their final position in the brain.

10. Schizencephaly
    schizencephaly. very rare; funnelshaped cleft in midportion of cerebralhemispheres communicates with ventricles. may be destructive  
    http://chorus.rad.mcw.edu/doc/00363.html

11. Brain Conditons Support Groups
    Iniencephaly, Lissencephaly, Megalencephaly (or Macrocephaly or Hemimegalencephaly),Microcephaly, Porencephaly, schizencephaly, Polymicrogyria (related to  
    http://www.kumc.edu/gec/support/brain.html
    
    Extractions: Anencephaly, Colpocephaly, Holoprosencephaly, Hydranencephaly, Iniencephaly, Lissencephaly, Megalencephaly (or Macrocephaly or Hemimegalencephaly), Microcephaly, Porencephaly, Schizencephaly, Polymicrogyria (related to Schizencephaly, form of Lissencephaly), Walker Warburg Syndrome (Muscle-Eye-Brain Disease, form of Lissencephaly), Dandy Walker, Other Professional Genetics Societies Genetic clinics, centers, departments

12. Schizencephaly.html
    schizencephaly * the literature (1994 to June 2000). Click here for Schiz KidzBuddies, a webbased support group devoted to children with schizencephaly.  
    http://www.indiana.edu/~pietsch/schizencephaly.html
    
    Extractions: The following MEDLINE items were compiled by SilverPlatter and are presented with their permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Click here for Schiz Kidz Buddies , a web-based support group devoted to children with Schizencephaly. Record 1 of 77 in MEDLINE EXPRESS (R) 2000/01-2000/06 TITLE: Persistent hyperplastic primary vitreous associated with septo-optic-pituitary dysplasia and schizencephaly. AUTHOR(S): Katsuya-Lauer-A; Balish-MJ; Palmer-EA ADDRESS OF AUTHOR: Casey Eye Institute, Oregon Health Sciences Center, Portland 97201-4197, USA. SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 2000 Apr; 118(4): 578-80 INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9950 PUBLICATION YEAR: 2000 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: UNITED-STATES MINOR MESH HEADINGS: Adolescence-; Corticotropin-deficiency; Fundus-Oculi; Hydrocortisone-therapeutic-use; Hyperplasia-; Infant,-Newborn; Levothyroxine-therapeutic-use; Magnetic-Resonance-Imaging; Thyrotropin-deficiency; Vitreous-Body-blood-supply MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Eye-Abnormalities-diagnosis; *Optic-Nerve-abnormalities; *Pituitary-Gland,-Posterior-abnormalities; *Septum-Pellucidum-abnormalities; *Vitreous-Body-pathology

13. Studies Seeking Patients
    Malformations Migrational disorders (Dobyns; Chicago); WalkerWarburg, Lissencephalies,schizencephaly, Septo-Optic Dysplasia, and Hypothalamic Hamartomas (Walsh  
    http://www.waisman.wisc.edu/child-neuro/seekpt-f/seekpts.html
    
    Extractions: Seeking Patients Neuromuscular Congenital muscular dystrophy (Dobyns; Univ. Minn.) Inflammatory myopathies (Rider; NIH, FDA ) Extraocular muscle research (Engle; Harvard) CIDP (Connolly; Washington Univ.) Giant axonal neuropathy (Crawford; Johns Hopkins ) Juvenile dermatomyositis (Pachman; Children's Memorial, Chicago) Myotonic dystrophy (Grosson, Harvard) Guillain-Barre (Sladky, Atlanta) Vaccine-associated myositis (Rider, NIH, FDA)

14. A Genetic Basis For Schizencephaly
    A Genetic Basis for schizencephaly. Lhx2 may play a role in schizencephaly,septooptic dysplasia, and Joubert Syndrome. by Allen Ho.  
    http://hcs.harvard.edu/~husn/BRAIN/vol8-spring2001/schiz.htm
    
    Extractions: A Genetic Basis for Schizencephaly Lhx2 may play a role in Schizencephaly, septo-optic dysplasia, and Joubert Syndrome by Allen Ho is a LIM homeodomain gene expressed by proliferating cells in the developing cerebral cortex. Based on its expression pattern and similarities to knockout mice, was investigated as a candidate gene for the human disorder schizencephaly, a rare cortical malformation characterized by a full-thickness cleft within the cerebral hemispheres. Septo-optic dysplasia, a disorder often associated with schizencephaly, and Joubert Syndrome, a cerebellar disorder, were also investigated. The human genomic sequence was defined and PCR protocols were developed to amplify DNA samples from both blood and paraffin-embedded brain tissue. The human gene was sequenced in nine patients with one or more of these malformations, with no definite mutations found in the known functional domains sequenced so far. A heterozygous sequence alteration is reported involving a hydrophobic to hydrophilic amino acid change in a hydrophobic polyalanine stretch with unknown functional significance. Also, two other reported heterozygous sequence alterations are identified involving base changes not predicted to result in a change to the protein coding sequence.

15. Schizencephaly
    schizencephaly. What is schizencephaly? schizencephaly is a form of porencephalyin which there is a cyst or cavity in the cerebral hemispheres.  
    http://www.clevelandclinic.org/health/health-info/docs/1300/1338.asp?index=6085

16. Show-documents.asp
    schizencephaly Written Information. Care Treatment., schizencephaly. New Search. Health Extra Menu.  
    http://www.clevelandclinic.org/healthextra/do-query.asp?TopicId=1353

17. Uhrad.com - Neuroradiology Imaging Teaching Files
    uhrad.com Neuroradiology Imaging Teaching Files. Case Thirteen - BilateralClosed-lip schizencephaly. Diagnosis Bilateral closed-lip schizencephaly.  
    http://www.uhrad.com/mriarc/mri013.htm
    
    Extractions: Click on Images for Enlarged View Clinical History: Four-year-old female with new onset of febrile seizures associated with loss of vision. Radiologic Findings: On the CT of the brain nodular irregularity of both lateral ventricular walls suggestive of heterotopia. T1 weighted axial images and gradient echo volume sagittal images were obtained. There is a gray matter lined cleft extending from the level of the parieto-occipital junction to the occipital horns of the lateral ventricles. There is marked gray matter heterotopia lining the occipital horns, atria, and the bodies of the lateral ventricles bilaterally. The gyral pattern of the occipital and pareietal lobes are abnormal with a thickened nodular pattern suggesting areas of polymicrogyria. Diagnosis: Bilateral closed-lip schizencephaly Discussion: Schizencephaly, also known as agenetic porencephaly, refers to gray matter lined clefts that extend through the entire hemisphere from the ependymal lining of the lateral ventricles to the pial covering of the cortex. The gray matter lining is dysplastic. The clefts can be unilateral or bilateral and are commonly located near the pre- or post-central gyri. Two types of schizencephaly are identified for prognostic purposes. In closed-lip schizencephaly, the cleft walls oppose each other causing obliteration of the CSF space within the cleft. In open-lip schizencephaly, CSF fills the cleft from the lateral ventricles to the subarachnoid space that surrounds the hemispheres. Patients typically present with seizures, hemiparesis, and some degree of developmental delay.

18. NINDS Schizencephaly Information Page
    schizencephaly information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS schizencephaly Information Page.  
    http://accessible.ninds.nih.gov/health_and_medical/disorders/schizencephaly.htm
    
    Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us NINDS Schizencephaly Information Page Schizencephaly is an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brain's cerebral hemispheres. Schizencephaly is a form of porencephaly in which there is a cyst or cavity in the cerebral hemispheres. Individuals with clefts in both hemispheres (bilateral clefts) are commonly developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in only one hemisphere) are often paralyzed on one side of the body and may have normal intelligence. Patients with schizencephaly may also have varying degrees of microcephaly (abnormally small head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis), and reduced muscle tone (hypotonicity). Most patients have seizures. Some may have hydrocephalus.

19. Schizencephaly
    HOME schizencephaly. schizencephaly; Open Lip schizencephaly (IncludesImages); Schiz Kidz Buddies Listserv; SchizKidzBuddies; schizencephaly;  
    http://www.bdid.com/schizencephaly.htm

20. Ae
    Closed Lipped schizencephaly. Septum pellucidum is absent. Differential Diagnosisclosed lipped schizencephaly, gray matter heterotopia, hamartoma.  
    http://www.med.uc.edu/neurorad/webpage/aza.html

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