| Schizencephaly is a rare developmental disorder characterized by abnormal clefts, or slits, in the brain's cerebral hemispheres. Persons with Schizencephaly may present with varying degrees of developmental delays, seizures, delayed speech & language skill, and vision & eating disorders. Many have normal intelligence. They may also have microcephaly (abnormally small head), intellectual delays, cognitive delays, 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 matrixzone at 1-5 months of gestation. Some theories suggest that possible causes of this are in-utero stroke, early gestational viral infections, and sometimes a mutated gene called 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. Genetic problems include both those that run in families and those that have appeared for the first time in the child who is affected. Often, a specific cause for Schizencephaly cannot be found in a particular child. How significantly you//your child may be affected depends on where the cleft occurs in the brain, whether it is unilateral or bilateral, whether it is the open lip or closed lip type, and whether it is associated with other brain malformations. * Unilateral means clefts in only one hemisphere of the brain. * Bilateral means clefts in both hemispheres of the brain. * Closed lip, or Type I, has clefts with fused edges. * Open lip, or Type II, has clefts with separated edges. Individuals with other forms of Schizencephaly can fall anywhere in between these groups in terms of how significantly they are affected. Therefore, to get the best information on how you or your own child will do, it is important to discuss with your doctor the specific characteristics of the Schizencephaly. MRI (magnetic resonance imaging) is the best way to diagnose Schizencephaly. The prognosis for individuals with Schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities. You, or your child, may have the same chances of a long and happy life as any other. Sometimes other medical issues caused by Schizencephaly affect lifespan, but just having Schizencephaly doesn't mean they are destined for a shorter lifespan. Copyright ©1997 by Judi Wright. All Rights Reserved. |
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| This website is provided for persons with Schizencephaly, their parents and families. families |
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