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Schizencephaly

What is schizencephaly?

Schizencephaly is a rare brain malformation that is present at birth, in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The severity of symptoms depends on factors such as the extent of the clefting and whether or not other brain abnormalities are present. Schizencephaly is very rare, with its occurrence estimated to be at just about 1 in 100,000 people. It affects males and females equally.

What are the symptoms of schizencephaly?

Symptoms associated with schizencephaly include the following:
  • Abnormally small head
  • Partial or complete paralysis
  • Seizures
  • Poor muscle tone
  • Developmental delay
  • Intellectual disability
  • Hydrocephalus (where there is too much cerebrospinal fluid in the brain, which increases pressure on the brain and can cause headaches, vomiting, nausea, blurry vision, balance problems, bladder control problems, and thinking problems.)

What causes schizencephaly?

The exact cause is unknown, but it has been linked to a variety of genetic and non-genetic factors. A small number of people diagnosed have been found to have mutations in one of these genes: EMX2, SIX3, SHH, and COL4A1.

How is schizencephaly diagnosed?

Schizencephaly is diagnosed using the following procedures:
  • Clinical examinations
  • Genetic testing
  • CT scans
  • MRIs
  • Prenatal ultrasounds

What are the treatments for schizencephaly?

Schizencephaly treatment includes, but is not limited to:
  • Physical therapy
  • Occupational therapy
  • Drugs to prevent seizures
  • In cases that have hydrocephalus, surgery may be used to implant a tube called a shunt to divert fluid to another area of the body, where it can be absorbed

Where can I find out more about schizencephaly?

Schizencephaly Articles

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