Birth defects of the brain and spinal cord 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.
Folate taken before pregnancy and during pregnancy can reduce the risk of certain types of defects.
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 Neural Tube Defects and Spina Bifida Neural tube defects are a certain type of birth defect of the brain, spine, and/or spinal cord. Neural tube defects can result in nerve damage, learning disabilities, paralysis, and death. The... read more develop within the first weeks of pregnancy. Other defects, including hydrocephalus Hydrocephalus Hydrocephalus is an accumulation of extra fluid in the normal spaces within the brain (ventricles) and/or between the inner and middle layers of tissues that cover the brain (the subarachnoid... read more and microcephaly Microcephaly Microcephaly is an abnormally small head. Often the head is small because the brain is small and abnormally developed. Microcephaly can be caused by many disorders including genetic abnormalities... read more , develop later in pregnancy.
There are many causes of birth defects of the brain and spinal cord, including many previously unknown genetic factors.
Symptoms of Brain and Spinal Cord Birth Defects
Many children with brain and spinal cord defects also have 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 intellectual disability Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more , seizures Seizures in Children Seizures are a periodic disturbance of the brain’s electrical activity, resulting in some degree of temporary brain dysfunction. When older infants or young children have seizures, they often... read more , and paralysis. Spinal cord damage can result in paralysis, incontinence Urinary Incontinence in Children Urinary incontinence is defined as the involuntary release of urine occurring two or more times per month after toilet training. Incontinence may be present During the day (daytime or diurnal... read more , and loss of sensation to areas of the body reached by nerves below the level of the defect ( see Figure: Where Is the Spinal Cord Damaged? Where Is the Spinal Cord Damaged? ).
Diagnosis of Brain and Spinal Cord Birth Defects
Before birth, amniocentesis, prenatal ultrasonography, or fetal magnetic resonance imaging (MRI)
After birth, computed tomography or magnetic resonance imaging
Before birth, amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more (removing a sample of fluid from around the fetus), prenatal ultrasonography Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more , or a newer technique called fetal MRI may enable doctors to identify many of these defects during pregnancy. When a defect is identified, parents need psychologic support and genetic counseling because the risk of having other children with such a defect is high.
After birth, computed tomography Computed Tomography (CT) In computed tomography (CT), which used to be called computed axial tomography (CAT), an x-ray source and x-ray detector rotate around a person. In modern scanners, the x-ray detector usually... read more (CT) and magnetic resonance imaging Magnetic Resonance Imaging (MRI) In magnetic resonance imaging (MRI), a strong magnetic field and very high frequency radio waves are used to produce highly detailed images. MRI does not use x-rays and is usually very safe... read more (MRI) can reveal brain and spinal cord defects by showing pictures of the internal structures of those organs.
Prevention of Brain and Spinal Cord Birth Defects
Folate Folate Deficiency Folate deficiency is common. Because the body stores only a small amount of folate, a diet lacking in folate leads to a deficiency within a few months. Not eating enough raw leafy vegetables... read more (a B vitamin, folic acid) taken before and during pregnancy can decrease the risk of some neural tube defects. For this reason, women of child-bearing age are encouraged to take folate if they think that they may become pregnant.
Treatment of Brain and Spinal Cord Birth Defects
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. With prompt surgical intervention, some children have near-normal development.