Schizencephaly

Schizencephaly is a condition where the brain does not develop normally. The child may have small heads or no head at all. The condition affects both boys and girls equally. Children with this condition usually live into their teens or early twenties, but it can occur even earlier in some cases. There are many different types of children affected by this condition. Some have milder forms while others have severe forms. All children with this condition are born with the same type of brain, however there is a difference in how it develops during childhood. A child’s brain develops differently depending on what part of the brain is affected by the disease. For example, if the brain is affected in one area, then that area will show signs of damage before other areas. If the brain is affected in another area, then the effects of damage may not appear until later stages of development.

The most common form of schizencephaly is called microcephaly (pronounced mih-keh-seek-uh-fee). This condition occurs when the baby’s skull does not grow properly.

It is a birth defect in which the skull is much smaller than normal. A baby with this condition may have an abnormally small head. Microcephaly is often associated with other disorders such as mental retardation, difficulties with movement and speech, and health issues with the heart, kidney, and other organs.

There are different types of schizencephaly. Most children have a less severe form that has fewer effects on the child’s development and life span.

Other children have a more severe form that causes serious problems with movement, breathing, and life span.

In most cases, children with this condition do not survive past early childhood. Those that do, live into their teenage years.

Children with a milder form of the condition may be able to attend regular schools. Children with a more severe form of the condition may need around-the-clock care throughout their lives. Most children with this condition have normal intelligence levels.

Children with this condition have an increased risk of developing other neurological problems. They may experience difficulty with movement, coordination, and muscle tone.

In addition, they may have feeding problems, sleep disturbances, and bowel and bladder difficulties.

The cause of this condition is unknown. Children can be born with it, or it can occur within the first few years of life.

It occurs when neural tube cells in the brain divide incorrectly during fetal development. Other children are born with a defect in the area where the skull does not close all the way before birth. This may be due to their bone structure not developing properly while in the womb.

Children with this condition often have a heart or kidney problems, intestinal problems, and/or hearing loss.

There is no known treatment to cure this condition. However, many children with this condition can lead fulfilling lives when given proper care and treatment.

Children with this condition may need physical, occupational, and speech therapy, in addition to medical care they may already be receiving.

Children should have an evaluation by a neurologist or other physician that specializes in brain disorders as soon as this condition is diagnosed. In addition, children with this condition should have regular checkups with a pediatrician and a neurologist.

This condition can be diagnosed during pregnancy before birth with an AFP (alpha-fetoprotein) ultrasound and amniocentesis. These tests are usually offered to all pregnant women after the 16th week of pregnancy.

After birth, this condition is diagnosed by medical examination.

There is no known cause for this condition. It is believed to occur randomly for unknown reasons.

Children with this condition require around-the-clock care. They may not survive past childhood or their teenage years.

However, many children with this condition can lead a fulfilling life when given the proper care and treatment.

Some of the signs that your child may be experiencing are:

Physical signs:

Children with this condition often have an abnormally large head or an unusually small head. In addition, their head may be flatter on one side than the other.

This is due to abnormal brain tissue in the skull. They may also experience vision and hearing problems. Their face may look asymmetrical and their eyes, ears, and teeth may not develop properly.

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 – jamanetwork.com

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

Schizencephaly: clinical and imaging features in 30 infantile cases by D Denis, JF Chateil, M Brun, O Brissaud… – Brain and …, 2000 – Elsevier

Familial schizencephaly by AC Hilburger, JK Willis, E Bouldin… – Brain and …, 1993 – Elsevier