Schizencephaly

What is Schizencephaly?

Schizencephaly is a rare birth defect that affects the development of the brain. It is characterised by furrows and clefts in the cerebral hemispheres. The furrows may be present on one side (unilateral) or both sides (bilateral) of the brain and it is possible for them to contain cerebral fluid.

What causes schizencephaly?

In most cases the exact cause of schizencephaly is unknown. However, certain genetic mutations have been linked to this disorder. Genetic research has established links with a number of genes, including the EMX2, SHH and S1X3 genes. Family history may also increase the risk of this defect, which suggests a genetic connection.

There has also been a suggestion that this defect is more common in babies with young mothers.

Who is affected?

Schizencephaly is very rare. It is estimated to affect between 1 and 2 in every 100,000 children.

What are the symptoms?

The nature and severity of symptoms tend to depend heavily on whether clefts are located on one or both sides of the brain. If they are located on both sides, symptoms tend to be more severe.

In the case of unilateral clefts, intellect and cognitive abilities are not generally affected. However, paralysis on one side of the body is common.

Bilateral clefts tend to affect cognitive function and contribute to delayed development, learning difficulties and speech problems. Children may also experience difficulties with movement due to a lack of coordination.

Additional symptoms include:

• a smaller than average head
• lack of muscle tone
• seizures

How is schizencephaly diagnosed?

Most commonly, MRI (magnetic resonance imaging) scans are used to diagnose schizencephaly. These scans show abnormal folds and clefts and confirm whether one or both sides are affected.

What kinds of treatments are available for schizencephaly?

There is currently no cure for schizencephaly but a number of treatments can be used to ease symptoms and improve a child’s quality of life. These treatments include:

Shunt: a shunt may be required if the clefts have filed with fluid. The aim of the shunt is to divert fluid to other parts of the body, where it can be absorbed safely.

Medication: medication may be prescribed to help prevent and control seizures.

Supportive therapies: supportive therapies, such as speech and language therapy, occupational therapy and physiotherapy, can help to improve speech and communication, motor skills, coordination and quality of life.

What is the outlook for children with schizencephaly?

Schizencephaly is very rare and little is known about the long-term prognosis of this condition. Experts believe that the severity of symptoms and the location and abundance of clefts play a major part in determining the outlook.