Schizencephaly

Common Name(s)

Schizencephaly

Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schizencephaly" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schizencephaly" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Schizencephaly" returned 29 free, full-text research articles on human participants. First 3 results:

Correlation of prenatal and postnatal MRI findings in schizencephaly.
 

Author(s): S A Nabavizadeh, D Zarnow, L T Bilaniuk, E S Schwartz, R A Zimmerman, A Vossough

Journal: AJNR Am J Neuroradiol. 2014 Jul;35(7):1418-24.

 

Schizencephaly is a rare malformation of the brain characterized by a gray matter-lined defect extending from the pial surface to the lateral ventricles. The purpose of this study was to correlate imaging findings of schizencephaly and associated anomalies on fetal and postnatal MR ...

Last Updated: 16 Jul 2014

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Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
 

Author(s): Kira A Dies, Adria Bodell, Fuki M Hisama, Chao-Yu Guo, Brenda Barry, Bernard S Chang, A James Barkovich, Christopher A Walsh

Journal: J. Child Neurol.. 2013 Feb;28(2):198-203.

 

Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter. The clinical presentation is variable and can include motor or cognitive impairment ...

Last Updated: 24 Jan 2013

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Schizencephaly: a study of 16 patients.
 

Author(s): I Pascual-Castroviejo, S I Pascual-Pascual, R Velazquez-Fragua, J Viaño, D Quiñones

Journal: Neurologia. 2012 Oct;27(8):491-9.

 

To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages.

Last Updated: 24 Sep 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Schizencephaly" returned 1 free, full-text review articles on human participants. First 3 results:

Schizencephaly associated with bipolar affective disorder.
 

Author(s): P Relan, S K Chaturvedi, B Shetty

Journal: Neurol India. 2002 Jun;50(2):194-7.

 

Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with ...

Last Updated: 22 Jul 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Human Epilepsy Genetics--Neuronal Migration Disorders Study
 

Status: Recruiting

Condition Summary: Epilepsy; Seizures; Cognition Disorders; Neuronal Migration Disorders

 

Last Updated: 27 Jun 2014

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