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Brain and Spinal Cord Defects

By Gregory S. Liptak, MD, MPH, Upstate Medical University

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  • These defects can occur in early or late fetal development.

  • Typical symptoms include intellectual disability, paralysis, incontinence, or loss of sensation in some parts of the body.

  • The diagnosis is based on computed tomography and magnetic resonance imaging.

  • Some defects can be repaired surgically, but brain or spinal cord damage is usually permanent.

Of the many possible defects in the brain and spinal cord, those known as neural tube defects develop within the first weeks of pregnancy. Others, such as porencephaly and hydranencephaly, develop later in pregnancy. Many brain and spinal cord defects result in visible abnormalities in the head or back.

Symptoms of brain or spinal cord damage may develop if the defect affects brain or spinal cord tissue. Brain damage can be fatal or result in mild or severe disabilities which may include mental retardation/intellectual disability, seizures, and paralysis. Spinal cord damage can result in paralysis, incontinence, and loss of sensation to areas of the body reached by nerves below the level of the defect (see Where Is the Spinal Cord Damaged?). Computed tomography (CT) and magnetic resonance imaging (MRI) can reveal brain and spinal cord defects by showing pictures of the internal structures of those organs.

Some defects, such as those that cause visible openings or swellings, can be repaired surgically. Although brain or spinal cord damage from the defect is usually permanent, surgery can help prevent further complications and improve function. Some children have near-normal development as a result of prompt surgical intervention.

Neural Tube Defects

  • Neural tube defects can result in nerve damage, learning disabilities, paralysis, and death.

  • The diagnosis can be made before birth and is based on a blood test, an amniotic fluid test, and an ultrasound.

  • Folate (folic acid) taken before conception and during the first trimester can help prevent these defects.

  • Surgery is needed to close neural tube defects.

Did You Know...

  • Taking folate before and during pregnancy can decrease the risk of neural tube defects up to 50%.

The brain and spinal cord develop as a groove that folds over to become a tube (the neural tube). Layers of tissue that come from this tube normally become the brain and spinal cord and their covering tissues, including part of the spine and the meninges. Sometimes the neural tube does not develop normally, which may affect the brain, spinal cord, and meninges. In the most severe form of neural tube defect, the brain tissue may fail to develop (anencephaly); this defect is fatal. Another type of defect results when the neural tube fails to close completely and remains an open channel. In its mildest form, an open channel defect may affect only bone. For example, in spina bifida occulta (which means hidden spine split in two), the bony spine fails to close, but the spinal cord and meninges are unaffected. This common abnormality causes no symptoms. Sometimes, a meningocele develops in which the meninges and other tissue, such as brain tissue (meningoencephalocele) or spinal cord tissue (meningomyelocele), can protrude out of the opening. Sometimes the meninges are not involved when tissue protrudes from the brain (encephalocele) or spinal cord (myelocele). Damage to brain or spinal cord tissue is much more likely when tissue protrudes than when it does not.

Spina Bifida: A Defect of the Spine

In spina bifida, the bones of the spine (vertebrae) do not form normally. Spina bifida can vary in severity. In one form, called occult spinal dysraphism, one or more vertebrae do not form normally, and the spinal cord and the layers of tissues (meninges) surrounding it may also be affected. The only symptom may be a tuft of hair, a dimpling, or a pigmented area on the skin over the defect. In a meningocele, the meninges protrude through the incompletely formed vertebrae, resulting in a fluid-filled bulge under the skin. The most severe type is a meningomyelocele, in which the spinal cord protrudes. The affected area appears raw and red, and the infant is likely to be severely impaired.

In occult spinal dysraphism, newborns are born with visible abnormalities on their lower back. These include birthmarks, overly pigmented areas (hemangioma and flame nevus), tufts of hair, openings in the skin (dermal sinus), or small lumps (masses). The underlying spinal cord may be connected to the surface, which exposes it to bacteria, greatly increasing the chance for development of meningitis. The nerves of the spinal cord may become damaged as the child grows. Or, the spinal cord may have a fatty tumor (lipoma) on it, which also can lead to nerve damage. Therefore, newborns who have these abnormalities should have the underlying soft tissue and spinal cord evaluated using ultrasonography or MRI.

Genetic factors can make neural tube defects more likely. The defect often develops before the mother knows she is pregnant. Most symptoms caused by neural tube defects result from brain or spinal cord damage. Meningoencephaloceles and meningomyeloceles cause severe disability. These include water on the brain (hydrocephalus), learning disabilities, paralysis with bone and joint abnormalities, decreased sensation of the skin, and bowel and urinary problems.

Many neural tube defects can be detected before birth. A high level of alpha-fetoprotein in the woman's blood or amniotic fluid may indicate a neural tube defect in the fetus (see Screening of the Pregnant Woman). Ultrasonography performed late in pregnancy may show the defect or characteristic abnormalities. Folate taken before a woman gets pregnant and through the first 3 months of pregnancy can decrease the risk of neural tube defects by as much as 50%. For this reason, women of child-bearing age are encouraged to take folate if they think that they may become pregnant. Neural tube defects are usually closed surgically.


Hydrocephalus is an accumulation of extra fluid in the normal open spaces within the brain (ventricles), usually causing an enlarged head and developmental problems.

  • Hydrocephalus occurs when the fluid in the normal spaces in the brain (ventricles) cannot drain.

  • Typical symptoms include an abnormally large head and abnormal development.

  • The diagnosis is based on CT, ultrasonography, or MRI.

  • Surgery is needed to insert a drain (shunt) into the brain.

The fluid surrounding the brain (cerebrospinal fluid) is produced in spaces within the brain called ventricles. The fluid must drain to a different area, where it is absorbed into the blood. When the fluid cannot drain, hydrocephalus (water on the brain) develops. Hydrocephalus often increases the pressure in the ventricles, which compresses the brain. Many conditions, such as a birth defect, bleeding within the brain (often associated with prematurity), or brain tumors, can block drainage and cause hydrocephalus.

An abnormally large head may be a symptom of untreated hydrocephalus. The infant usually does not develop normally. CT, ultrasonography, or MRI of the head reveals the diagnosis as well as the degree of brain compression.

The goal of treatment is to keep pressure normal within the brain. A permanent alternate drainage path (shunt) for cerebrospinal fluid decreases the pressure and volume of the fluid inside the brain. A doctor places the shunt in the ventricles in the brain and runs it under the skin from the head to another site, usually the abdomen (ventriculoperitoneal shunt). The shunt contains a valve that allows fluid to leave the brain if the pressure becomes too high. Although a few children can eventually do without the shunt as they get older, shunts are rarely removed. On occasion, a surgical hole placed between the third and fourth ventricles (ventriculostomy) may treat the hydrocephalus.

If needed, pressure within the brain can often be temporarily reduced with repeated spinal taps (lumbar punctures) until a shunt is placed.

Some children with hydrocephalus develop normal intelligence. Others, especially those who develop hydrocephalus early in the pregnancy, are mentally retarded/intellectually disabled, or have learning disabilities.


Microcephaly is an abnormally small head.

Often the head is small because the brain is small and abnormally developed. Thus, affected newborns have symptoms of brain damage. Various disorders can cause microcephaly, including the following:

Microcephaly is recognized when doctors measure head circumference during routine examinations of the newborn. Doctors evaluate the newborn and parents to look for possible causes of microcephaly and then test for any causes they suspect.

Symptoms of brain damage are treated. Some disorders causing microcephaly can be treated.

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