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Schizencephaly is a very rare congenital abnormality of the brain in which the brain is interrupted with one or more clefts which are filled with cerebrospinal fluid. In unilateral schizencephaly, the patient has a cleft in one of the hemispheres of the brain, while the bilateral form of this condition involves both hemispheres. Patients with this condition experience a range of neurological problems, depending on the size and location of the clefts.
There are several possible causes for schizencephaly. Environmental exposure to certain substances during the critical phase of brain development can cause this condition, as can certain infections in the mother. Sometimes, schizencephaly occurs randomly as a result of abnormalities in fetal development. In all cases, the clefts are lined with gray matter, an indicator that they form very early. The clefts may be closed or open in nature, depending on the individual patient, in which case the condition is classified as either open or closed-lip schizencephaly.
Cases of schizencephaly can sometimes be diagnosed during prenatal ultrasound. In other cases, the condition may become evident after labor and delivery as the patient fails to reach developmental milestones or experiences problems like paralysis, muscle weakness, and seizures. Seizures are extremely common in schizencephalic patients, and some also develop hydrocephalus, in which there is a buildup of fluid on the brain which can be dangerous for the patient. These problems will persist for life and vary in severity; some patients can live relatively normal lives with unilateral forms of this condition, while people with bilateral schizencephaly tend to encounter more serious problems.
It is not possible to cure schizencephaly, but techniques can be used to manage the condition and keep the patient more comfortable. Physical therapy may be used to help a patient develop muscle strength, while medications can manage seizures, and personalized education can help a child deal with developmental delays. If hydrocephalus develops, a shunt may be installed surgically to drain the excess fluid.
Having a child with schizencephaly does not mean that future children will have this condition, because it is not inherited. Mothers can reduce the risk of schizencephaly in their children by being careful to avoid environmental exposures and infections during pregnancy, especially in the early stages, when the brain is developing very rapidly. Ultimately, however, congenital birth defects can happen even when pregnant women are extremely careful about their pregnancies; turning a fertilized zygote into an entire human baby is a complex process with a number of steps, and sometimes a step simply goes wrong.
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