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

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Schizencephaly Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Schizencephaly Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Schizencephaly? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Schizencephaly? 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

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/21/94 SCHIZENCEPHALY DEFINITION: A disorder of neuronal migration characterized by unilateral or bilateral clefts within the cerebral hemispheres. EPIDEMIOLOGY: incidence: ? age of onset: infancy to childhood risk factors: no genetic or chromosomal basis has been established associated anomalies: disorders of induction myelomeningocele other migration disorders grey matter heterotopias microgyria PATHOGENESIS: 1. Background clinical features correlate with the size of the lesion pathologically may present as a fluid-filled brain cavity lined by normal dura or a pia-arachnoid membrane CLINICAL FEATURES: 1. Neurologic Manifestations infantile hypotonia seizure disorder developmetnal delay mental retardation microcephaly motor dysfunction (spastic quadriplegia, hemiparesis, hypotonia) INVESTIGATIONS: 1. Imaging Studies 1. CT/MRI the clefts within the cerebral hemispheres can extend from the cortical surface or the subarachnoid space to the underlying ventricular cavity clefts are almost invariably located in the area of the sylvian fissure symmetrical clefts usually align parallel to the normal primary fissures hypoplastic cerebrum in region of the cleft MANAGEMENT: 1. Team Approach

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

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Schizencephaly 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

Schizencephaly Schiz Kidz Buddies - support group for children/persons with Schizencephaly and their families and caregivers. Includes daily e-mail loop, birthday club for children (they receive stuffed animals, cards, balloons, etc. on their birthdays and other gifts during the year!). Web URL: http://www.geocities.com/Heartland/Meadows/7384 E-mail (Judi Wright): wrights@televar.com To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

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

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 Professor at the Ecole Normale Superieure c/o Hopital Robert-Debre 48 Boulevard Serurier F-75019 PARIS, France Phone and fax: 33.1.40 03 19 12 e-mail address: SIMONEAU@INFOBIOGEN.FR . [The correct spelling of the name is SIMONNEAU but the e-mail address is SIMONEAU !]. With best regards. Philippe EVRARD Go back to Child-Neuro Homepage Go back to Clinical Studies Seeking Patients page Last updated 06 October 1999

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/

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/

Radiology Resident Case of the Week: April 26, 1996 Schizencephaly Lorenzo Carson, M.D. Peer Review Status: Internally Peer Reviewed Clinical Sx: Patients may present with seizure disorders, mild to moderate developmental delay and mental retardation. Etiology/Pathophysiology: Failure of the normal migration of neurons from the germinal matrix zone at 1-5 months of gestation. A gray matter lined parenchymal cleft develops that extends from the subarachnoid space to the subependyma of the lateral ventricles. Pathology: 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: Most brain malformation can be produced by a variety of injuries during gestation. This includes infections, X-radiation, certain drugs, metabolic and genetic abnormalities.

9. Schizencephaly schizencephaly is a rare developmental disorder characterized by abnormalslits, or clefts, in the cerebral hemispheres. schizencephaly http://thecpnetwork.netfirms.com/schizencephaly.html

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

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search schizencephaly very rare funnel-shaped cleft in midportion of cerebral hemispheres communicates with ventricles may be destructive (porencephaly) or developmental associated with septo-optic dysplasia Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

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

Brain (Cephalic) Conditions / Disorders Support Groups 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 Anencephaly Support Foundation Holoprosencephaly Support Site Rays of Sunshine , Hydranencephaly Lissencephaly Network Lissencephaly mailing list Lissencephaly Launch Pad Microcephaly ... Hydrocephalus Association and Listserv (HYCEPH-L) Agenesis of the Corpus Collasum (ACC) Listserv National Institute of Neurological Disorders and Stroke Walker Warburg Syndrome (Savage family page) Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members To locate a genetic counselor or clinical geneticist in your area: 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

Return to ShuffleBrain's main menu SCHIZENCEPHALY the literature (1994 to June 2000) web contact: pietsch@indiana.edu A literature search at Indiana University, Bloomington, Indiana 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

Child-Neuro: Research Protocols Seeking Patients WWW Sites Epilepsy AED Antiepileptic Drug Pregnancy Registry .(MGH, Harvard) Pyridoxine-Dependent Seizures Registry (Gospe; UC Davis ) Benign familial neonatal convulsions (Anderson, Univ. Minnesota) Vigabatrin for infantile spasms (Elterman; multicenter trial) Cortical Myoclonus (Scott, NINDS) Genetics of idiopathic infantile spasms (Baram, Los Angeles) Ketogenic diet for atonic/myoclonic seizures (Freeman and Vining, Baltimore) Rufinamide for patients with Lennox-Gastaut (Mitchell, Los Angeles) Rasmussens encephalitis Oksenberg and Baranzini, San Francisco ) 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

Volume 8 [Spring 2001] Home Contents Subscriptions Archives 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

uhrad.com - Neuroradiology Imaging Teaching Files Case Thirteen - Bilateral Closed-lip Schizencephaly 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

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain 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 More about NINDS Schizencephaly Information Page 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 Content for this page NINDS Schizencephaly Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Schizencephaly? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Schizencephaly? 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

HOME Schizencephaly schizencephaly Open Lip Schizencephaly (Includes Images) Schiz Kidz Buddies Listserv SchizKidzBuddies Schizencephaly SCHIZENCEPHALY ... Closed Lipped Schizencephaly (Includes Images) Open Lipped Schizencephaly (Includes Images) schizencephaly schizencephaly information sheet Schizencephaly Bilateral Closed-lip Schizencephaly ... HOME

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

Closed Lipped Schizencephaly Findings: A closely apposed, gray matter lined cleft extends to the left lateral ventricle from the left frontal cortex. Septum pellucidum is absent. Differential Diagnosis: closed lipped schizencephaly, gray matter heterotopia, hamartoma. Discussion: -most commonly migrational anomaly occurring at approximately 6 weeks gestation. -other migrational anomalies: lissencephaly, polymicrogyria, pachygyria -infarct vs. developmental, TORCH -50% have septo-optic dysplasia -80% rule- bilateral, open, symmetric BACK TO UNKNOWNS BACK TO CATEGORIES HOME NEXT CASE

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