List of Birth Defects of the Spine

Birth Defects of the Spine Overview

Birth defects or congenital anomalies of the spine usually occur during the development of the fetus inside the uterus. Babies born with spinal cord defect often present with incontinence, lack of sensation in some areas of the body and paralysis. The exact cause of birth defects is unknown, but research has shown that genetics, infections and environmental factors may play a role. Birth defects are diagnosed by defining the risk factors of the mother, through use of ultrasound, blood tests, chorionic villi sampling and amniocentesis. Some birth defects, especially those related to environmental factors, can be prevented by avoiding alcohol, smoking, potent drugs and exposure to radiation and infections, and by maintaining good and proper nutrition.

Couples who had a child with spinal birth defects, may have increased risk of having another child born with the same abnormality.

Examples of Birth Defects of the Spine

Spina Bifida

Spina bifida is a neural tube defect which results from the spine’s failure to close properly during the first month of fetal development. Deficiency of folic acid is frequently associated with the development of neural tube defects. It is still unknown how the exact mechanisms of neural tube defects actually occur, but the deficiency in folic acid is said to affect some pathways that lead to the incomplete closure of the spine during fetal development.

Spina bifida can affect different organ systems in the body, such as the urinary, nervous and muscular systems. There are several types of spina bifida commonly seen in children.These include:

Myelomeningocele, Meningocele, Spina Bifida Occulta

The most severe form is the myelomeningocele where the spinal cord and the meninges are protruding through a fissure or opening in the spine. Meningocele occurs when a sac is seen protruding through the spine. The spinal cord usually develops normally and it is not contained inside the protruding sac. Spina bifida occulta is the mildest form of spina bifida where there is no involvement of both meninges and spinal cord only that the vertebrae malformed during fetal development.

Paralysis, partial or complete, hydrocephalus and other birth defects are seen also in children with spina bifida. Their prognosis is usually poor but with proper treatment, they can survive until adulthood.

Modalities of treatment for the different conditions are surgery, therapy and medication. Treatments are done to reduce the symptoms, improve functioning and avoid further complications.

Occult Spinal Dysraphism

Newborns with occult spinal dysraphism often present with visible abnormalities in the lower back. Some of these abnormalities include a dermal sinus, birthmarks, hemangiomas and masses or tumors. Tufts of hair may also be seen at the back of infants. Through these abnormalities, the spinal cord may have connections to the surface, thus exposing it to possible infections. Infants born with these manifestations are usually evaluated using magnetic resonance imaging, ultrasound or CT scan.

References

MERCK: Brain and Spinal Cord Defects

Children’s Specialist: Spinal Defects Clinic