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Madisons Foundation - Moms And Dads In Search Of Needed Support
Schizencephaly
Thursday, 28 July 2005
Last Updated Thursday, 28 July 2005
What
Schizencephaly (literally meaning “split brain”) is a rare neurologic birth defect characterized by abnormal slits (or clefts) in one or both of the halves of the child’s brain. There are two types of schizencephaly, Type I and Type II. Type I is the less severe type and consists of a small cleft in the brain that is usually filled in with brain matter. Type II is more severe, as the cleft is large and continues all the way from the outer surface of the brain to the innermost portion. This space is filled with cerebrospinal fluid (CSF), the liquid that surrounds and insulates the brain within the skull. In both types, the clefts may be on only one side of the brain (unihemispheric) or on both sides (bihemispheric). Children with bihemispheric schizencephaly generally have more symptoms of the disease than do children with unihemispheric schizencephaly.Who
Schizencephaly is believed to occur with comparable frequency in males and females and in all ethnic groups. It is known to be extremely rare, but the exact incidence of the disease is not known. Children with schizencephaly have the disease from birth.Signs and Symptoms
The symptoms of schizencephaly vary according to the number and severity of brain clefts. Children with the least severe cases usually have seizures (which can usually be treated with medication) but otherwise normal development and functioning. Deeper and wider clefts (as well as multiple clefts) often lead to more symptoms, including muscle weakness and/or paralysis, developmental delay, severe seizures, difficulties with movement, delays in learning to speak and understand speech, visual problems, mental retardation, psychiatric disorders, and hydrocephalus (the expansion of head size due to the accumulation of CSF). The symptoms vary from patient to patient, and not all patients with schizencephaly will have all of the symptoms mentioned above.Possible Causes
There are several different ideas about what might cause schizencephaly, but none of the ideas have been proven at this point. The disorder is thought to be caused by a defect in brain development that prevents the neurons from becoming organized properly. It is unclear what causes this defect, but it seems likely that various different problems (including a disruption of blood flow, the presence of some type of toxin, or a virus) during pregnancy may lead to schizencephaly. There also have been cases of a genetic form of the disease, but it is unclear. The genetic form is thought to be due to a mutation in the EMX2 gene.Diagnosis
Schizencephaly is diagnosed after a physician sees evidence of a cleft in the brain on an MRI (magnetic resonance imaging) or CT (computed tomography) scan. MRI is generally considered to be the best tool to aid in the diagnosis of schizencephaly. In theory, this diagnosis can be made at birth, but it is often not done until later. In individuals with Type I schizencephaly, the diagnosis is often not made until later in infancy or early childhood because the symptoms are less severe. It is possible to diagnose schizencephaly before birth with a prenatal ultrasound, but only very rarely does this occur.Treatment
At this point, no cure exists for schizencephaly. Treatment generally consists of physical therapy and drugs to prevent seizures (antiepileptics). If the child has developed hydrocephalus, a tube (called a “shunt”) is sometimes surgically implanted to transport the extra CSF from the brain to another part of the body where it can be properly absorbed.Prognosis
The prognosis for individuals with schizencephaly depends greatly on the degree of the brain cleavage. In Type I schizencephaly (in which the abnormal cleft in the brain is small and mostly filled in with brain tissue), prognosis is good. Individuals with this form of the disease usually have few clinical problems and can lead mostly normal lives, living until early adulthood. Most will, however, need to take antiepileptic medications to help control their seizures. On the other hand, if the brain abnormalities are more severe, the effects can be much more dramatic. This is seen most often in Type II schizencephaly (in which the cleft in the brain is much larger and fills with CSF). Individuals with this type of schizencephaly often are mentally retarded, have seizures, and cannot walk, speak, or see. Those with the most severe symptoms may die at a young age due to uncontrollable seizures and breathing problems due to their poor muscle control.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Schiz Kidz Buddies
This website is an excellent resource for children with schizencephaly, their families, friends, and caregivers. It provides basic information on the disease and details on how to join a schizencephaly email list, personal accounts, and many helpful links.
National Institute of Neurological Disorders and Stroke (NINDS) Schizencephaly Information Page
This website gives a brief, easy-to-understand summary of schizencephaly and includes contact information for various organizations and support groups.
ClinicalTrials.gov: Schizencephaly
This website is a database for all federally- and privately-funded research. As of July 2005, there was one schizencephaly study currently enrolling patient volunteers.