Rachischisis


Rachischisis

Description, Causes and Risk Factors:

Embryologic failure of fusion of vertebral arches and neural tube with consequent exposure of neural tissue at the surface; spina bifida cystica with myelocele or myeloschisis. The term rachischisis derives from the Greek words rachi meaning spine and schisis meaning split.

It is the result of a neural tube defect (NTD) that occurs during the first few weeks of fetal development. In normal fetuses, the neural tube closes in the fourth week of development. In the case of rachischisis the caudal neuropore does not close resulting in complete exposure of tissues and nerves in the spinal canal.

Due to the difficulty in studying neural tube defects (NTD), it is unknown what causes them or spina bifida to occur. Scientists have indicated that a major factor may be a maternal deficiency of folate or folic acid. This vitamin plays an important role in the development of the brain and spinal cord.

Maternal deficiency in folate or folic acid has been deemed one of the major risk factors associated with the development of rachischisis. Additional risk factors include maternal obesity, diabetes, and hyperthermia during the first few months of pregnancy. Exposure to toxins, like valporic acid or folate antimetabolites, can also cause defects in the neural tubes to occur.

Women who have had children with NTDs are 1.9 percent more likely to have another child with an NTD. Rachischisis is more common in people of North European or Hispanic descent.

Symptoms:

Infants with rachischisis will be born with a spinal cord that is completely exposed. Other symptoms may include lack of sensation or paralysis in extremities below the defect, abnormal feet or legs, hydrocephalus, hair on the sacral area, and weakness in the hips, legs, or feet.

Diagnosis:

Prenatal screening can assist in detecting if a fetus has rachischisis. During the second trimester, doctors will perform a maternal serum alpha fetoprotein (MSAFP) test which will show how much alpha-fetoprotein the mother has in her blood. Elevated levels of this protein usually indicate the fetus has a neural tube defect of some kind. Amniocentesis and an ultrasound can be used to confirm the diagnosis.

Post-natal, rachischisis will generally be clearly evident. The doctor will usually conduct additional testing, such as seeing how the infant responds to pinpricks, to determine the severity of the condition.

Treatment:

If the condition is detected in utero, treatment will depend on the severity. In cases of rachischisis, abortion may be recommended.

Post-natal, children with rachischisis require surgical intervention to close the exposed spinal cord. They may be given antibiotics to prevent infections, like meningitis, from occurring. If hydrocephalus has developed, a shunt may be placed in the brain to drain excess fluid.

Additional treatment usually focuses on the health complications that result from rachischisis such as paralysis. This may include physical therapy, the use of drainage tubes like catheters, and therapy to treat neurological damage.

Damage to the spinal cord and nerves is not repairable.

Women can reduce their chance of having a child with rachischisis by ensuring they consume the recommended daily amounts of folic acid or folate during their reproductive years. Because these defects develop even before a woman realizes she is pregnant, it is important that the woman make a habit of consuming foods that are rich in folate or using folic acid supplements.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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