Schizencephaly

Written by Debra Stang
Medically Reviewed by George Krucik, MD, MBA on June 5, 2013

Schizencephaly

Schizencephaly is a rare birth defect that involves slits or clefts in the cerebral hemispheres of the brain. These clefts may appear on either one or both sides of the brain. They may be filled with cerebrospinal fluid.

What Causes Schizencephaly?

An exact cause for schizencephaly is not known. In fact, there may be several causes. In some cases, the defect is linked to mutations of the EMX2, SIX3, and SHH genes (Office of Rare Diseases Research). Cases of schizencephaly occurring in siblings also point to a possible genetic or hereditary cause.

There also appears to be vascular causes not related to the central nervous system (CNS).

Having a young mother has also been associated with schizencephaly.   

Who Is at Risk for Schizencephaly?

Schizencephaly is an extremely rare disorder. A study in the UK found a prevalence of 1.48 for every 100,000 births (Office of Rare Disease Research).

Since the exact cause of the disorder is unknown, it is hard to pinpoint risk factors. A few possibilities include:

  • having a young mother
  • having a sibling, especially an identical twin, with schizencephaly
  • having non-CNS vascular problems before birth
  • having certain genetic mutations

Symptoms of Schizencephaly

Symptoms of schizencephaly vary depending on whether the clefts in the brain are located on both sides (bilateral) or on only one side (unilateral).

Bilateral clefts have more serious symptoms. They often result in developmental delays, and delays in learning speech and language skills. They can also cause problems with movement due to poor communication between the brain and the spinal cord. 

Unilateral clefts almost always produce paralysis on one side of the body. However, most people with unilateral clefts have normal to near-normal intelligence. 

Other symptoms of schizencephaly include being partially or completely paralyzed, poor muscle tone, or having a head that is smaller than normal.  Recurring seizures are also a symptom. Too much fluid accumulating in the brain can also be a symptom (National Institute of Neurological Disorders and Stroke). 

Diagnosis of Schizencephaly

Magnetic resonance imaging (MRI) is usually used for diagnosis because it has better definition than a computed tomography (CT) scan.  MRIs can also take images in more than one place. The diagnosis of schizencephaly is confirmed if telltale clefts are found in one or both cerebral hemispheres.   

Treatment for Schizencephaly

At this time, there is no cure for schizencephaly. However, there are several treatments that can help improve quality of life. 

Shunts

If an infant has cerebrospinal fluid (CFS) in the brain, doctors can insert shunts. These redirect the fluid to other parts of the body where it can be harmlessly reabsorbed.

Medication

Medication is often prescribed to help prevent seizures.

Therapies

There are at least three different kinds of therapists that can help a child with schizencephaly. Physical therapists can help with gross (large) motor movements like standing, walking, and strengthening arms and legs. Occupational therapists deal with fine motor movements like feeding oneself and getting dressed. Speech therapists can help children who have trouble learning to speak or if paralysis makes swallowing difficult.

Clinical trials

Because so little is known about this condition, researchers are always looking for children who have schizencephaly to participate in clinical trials. Many trials offer free treatments such as medications or therapies. Before deciding to sign your child up for a clinical trial, speak with your child’s doctor and read all research material closely.

Prognosis for Schizencephaly

Because it is so rare, little is known about long-term prognosis for this disorder. In general, researchers believe that it depends on the size of the clefts and the extent of disabilities they cause.

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