Schizencephaly is a rare birth defect where the brain does not develop properly in the baby’s skull. It is caused by an abnormality of neural tube (the space between the head and body) or brain tissue. Most babies with this condition do not survive beyond their first year of life due to various reasons such as infections, malnutrition, severe trauma or even sudden infant death syndrome (SIDS).

The condition is classified into two types:

Congenital – A child is born with it because of chromosomal abnormalities. Usually there are no symptoms.

There may be one or several missing parts of the brain, but they don’t affect intelligence level. Examples include Down Syndrome, Edwards Sudden Infant Death Syndrome (also known as “Edwards Baby Blues”), Trisomy 18 and Fragile X syndrome.

Acquired – A child is born with it through some sort of genetic disorder. Symptoms may include mental retardation, speech problems, learning disabilities and other developmental delays.

These children usually have normal intelligence levels at birth. They may suffer from seizures, hearing loss or vision impairment later in life. Some examples are Angelman syndrome, Rett syndrome and Klinefelter’s syndrome.

The child will have an empty area in the skull where part of the brain is missing. This results in poor development of the skull and the brain.

He may suffer from learning disabilities, vision loss, hearing loss, hormonal imbalance, lack of coordination, seizures and other health problems.

Through advanced medical technology it is possible for a child with this disease to survive longer than in the past. Most children who do not survive past birth will die due to severe trauma or SIDS.

What causes this disease?

The exact cause of this disease is unknown. It is thought to be caused by a combination of genetic and environmental factors. The mother may have taken a specific medication while she was pregnant that may have caused the birth defect. For example, thalidomide (a drug that was once given to pregnant women for the treatment of nausea) has been known to cause this condition. It is also possible that the mother had a poor diet that caused this birth defect.

The disease can be inherited from the parents in an autosomal recessive pattern. This means a baby has a 25 percent chance of getting the condition if both parents are carriers, and 50 percent chance if just one of them is a carrier.

It is not likely that the child will have the condition if neither parent has it.

What are the risk factors for schizencephaly?

The only known risk factor is a high white blood cell count while the mother is pregnant. It may also decrease the chances of getting a normal ultrasound of the brain.

What are the symptoms of schizencephaly?

The baby will be born with an abnormally shaped skull (like an empty shell) and an opening in it. The skull may have one or more openings. The brain is usually missing parts of it (commonly the back). The tissue connecting the left and right halves of the brain is also partially missing. This affects the way the baby’s brain develops and grows.

The child may experience learning disabilities, vision loss, hearing loss, hormonal imbalance, lack of coordination, seizures and other health problems. He may also have trouble with daily living skills such as eating and walking normally.

Children with this disorder are usually severely impaired. However, not all children experience the same symptoms and the degree of the symptoms varies greatly.

How is schizencephaly diagnosed?

The doctor may notice a gap or cleft in the baby’s skull during the ultrasound. A cranial ultrasound will be performed to confirm the diagnosis. The brain may be underdeveloped (as a result of part of the brain not forming).

An MRI may be needed to look at the brain’s tissue more closely and confirm the diagnosis.

How is schizencephaly treated?

Surgery may be performed to close the openings in the skull. The baby may have learning disabilities or vision loss after the surgery. There is also a chance that there may be an infection after the surgery.

A shunt may be placed in the brain to drain excess fluid. The child may need to have multiple surgeries to replace or repair the shunt.

Some children will need a feeding tube placed due to problems with their ability to swallow. They may also need a g-tube (nasogastric tube) to give nutrition if they are not able to eat normally.

A brace or helmet may be used to help improve the posture and prevent further deformity of the head. Physical, speech and occupational therapy may also be needed.

Physician and surgeon recommendations will depend on many factors and must be determined on a case-by-case basis.

What is the prognosis of a child with schizencephaly?

The outlook depends on the symptoms of each child. Some children may survive into adulthood while others may not live past early childhood. Children who experience vision loss, hearing loss or muscular weakness as a result of brain damage have a poorer prognosis than those who do not.

Prevention of schizencephaly

There is no known prevention at this time. It is not a genetic condition and it is not caused from anything the mother did or did not do during her pregnancy.

Parental concerns

Parents may notice their child is missing part of their skull when they are born. They may also notice a ring of hair growing around the head near the opening in the skull.

Sometimes the area around the opening in the skull looks indented or sunken compared to the rest of the head.

Other names for schizencephaly

Schizencephaly is also known as cleft brain or cerebral clefting.

Sources & references used in this article:

MR imaging of schizencephaly by AJ Barkovich, D Norman – American Journal of …, 1988 – Am Roentgen Ray Soc

Schizencephaly: correlation of clinical findings with MR characteristics. by AJ Barkovich, BO Kjos – American Journal of …, 1992 – Am Soc Neuroradiology

Familial schizencephaly associated with EMX2 mutation by T Granata, L Farina, A Faiella, R Cardini, L D’incerti… – Neurology, 1997 – AAN Enterprises

Schizencephaly: correlations of clinical and radiologic features by AM Packard, VS Miller, MR Delgado – Neurology, 1997 – AAN Enterprises

A unitary model of schizophrenia: Bleuler’s fragmented phrene as schizencephaly by NC Andreasen – Archives of general psychiatry, 1999 –

Cytomegalovirus infection and schizencephaly by P Iannetti, G Nigro, A Spalice, A Faiella… – Annals of …, 1998 – Wiley Online Library

Schizencephaly: a clinical and CT study by GM Miller, JC Stears, MA Guggenheim, GN Wilkening – Neurology, 1984 – AAN Enterprises