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?
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.
also appears to be vascular causes not related to the central nervous system
a young mother has also been associated with schizencephaly.
Who Is at Risk for 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).
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
Symptoms of Schizencephaly
of schizencephaly vary depending on whether the clefts in the brain are located
on both sides (bilateral) or on only one side (unilateral).
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.
clefts almost always produce paralysis on one side of the body. However, most
people with unilateral clefts have normal to near-normal intelligence.
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
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
this time, there is no cure for schizencephaly. However, there are several
treatments that can help improve quality of life.
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
is often prescribed to help prevent seizures.
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.
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
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.