Nervous system malformations

What are nervous system malformations?

The nervous system consists of a complex network of nerves and cells that transmit information from the brain and spinal cord to the various parts of the body through nerve endings, a kind of network that covers the entire body and allows a person to feel and react to stimuli.

The nervous system is made up of the central system – formed by the brain and spinal cord – and the peripheral system, composed of the somatic and autonomic systems.

Malformations of the nervous system are caused by damage to its development. In fact, several genetic conditions play an important role in their appearance. Others may be caused by environmental factors, and others have their origin in radiation or infections to which the mother may be exposed during embryonic development.

Most are neural tube defects, that is, congenital defects in the brain, spinal cord and spine. These are caused in the first month of pregnancy, before the woman is aware of her condition.

The most serious anomalies are:

  • Spina bifida: the spine of the fetus fails to close completely, and there is usually a series of neurological and nerve damage that causes paralysis in the legs.
  • Anencephaly: a large part of the brain and skull fail to develop. Babies with anencephaly are usually born lifeless or die shortly after birth.
  • Encephalocele: in this case, the tube does not close near the brain, and there is an opening in the skull, forming a lump.
  • Iniencephaly: there is an extreme deformity of the spine, the baby lacks a neck and the face is attached to the chest.
  • Chiari malformations: part of the brain tissue passes into the spinal cord.

Prognosis of nervous system malformations

Nervous system malformations are considered serious diseases, since in many cases they cause paralysis or disability. In other cases, these malformations can directly cause death, before and/or hours after birth.

Symptoms of nervous system malformations

There are diseases or defects in the nervous system that directly involve the death of the fetus within hours or even before birth, such as inicincephaly or anencephaly.

However, there are malformations of the nervous system that hardly have any symptoms. And there are others that do have symptoms, but which can be lived with.

Spina bifida: this is the most common type of malformation of the nervous system and occurs when the neural tube is not completely closed. This malformation causes paralysis in the legs and lower spine in some children, and can affect their motor functions for life or even cause intestinal and urinary dysfunctions. In turn, children with spina bifida may have intellectual disabilities. There are four types of spina bifida:

  • Spina bifida occulta: this is the mildest form and causes hardly any disabilities, as there is no damage to the spinal cord or nerves.
  • Closed neural tube defect: this is a malformation in the bone, membranes or fat. In many people it causes hardly any symptoms, although in others it is the cause of paralysis.
  • Meningocele: in many cases it has no symptoms.
  • Myelomegingocele is the most severe and common form of spina bifida. The bones of the spine have not fully formed, and part of the spinal cord exits through an opening. Usually, there is complete or partial paralysis in the area below the opening. Urinary and bowel dysfunction are quite common. Occasionally hydrocephalus develops, causing learning disabilities.
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Encephalocele: occurs when the tube is not closed near the brain. Problems such as hydrocephalus or paralysis of the upper and lower extremities may occur. Facial abnormalities, seizures and vision problems are also common. Despite all these problems, there are children with normal intelligence.

Medical tests for malformations of the nervous system

When diagnosing malformations affecting the nervous system, imaging tests are essential. Magnetic resonance and nuclear magnetic resonance allow us to observe with certain clarity the structure of the nervous system.

What are the causes of malformations of the nervous system?

Although much research has been done on the origin of malformations and anomalies of the nervous system, the exact causes of why the nervous system of the fetus does not develop completely are not known today.

However, it is estimated that there is an increased risk of the fetus suffering a malformation of the nervous system in the following cases:

  • The mother suffers from obesity
  • The mother has diabetes and for some reason the disease is not being well controlled.
  • The mother is taking certain medications to prevent seizures.

Can nervous system malformations be prevented?

Folic acid is essential to prevent malformations of the nervous system. Folic acid is a B vitamin that mainly helps the body in the creation of new cells.

In women of childbearing age, folic acid is extremely important. In fact, getting enough folic acid before and during pregnancy can prevent major birth defects in the baby’s brain and spine.

Folic acid can be found in the following foods:

  • Green leafy vegetables
  • Fruit
  • Peas, nuts and peas
  • Enriched breads and cereals

If you are unable to get enough folic acid from food, it can be taken as a dietary supplement.

Maternal blood tests during pregnancy can also detect neural tube disorders, as well as congenital heart disease and Down syndrome.

Amniocentesis is a prenatal test that primarily serves to diagnose genetic defects and abnormalities in the baby before birth.

Treatments for nervous system malformations

Encephaloceles can sometimes be treated by surgery, by introducing the bulging tissue back into the skull, while correcting malformations in both the face and skull.

The treatment of spina bifida varies according to the disease and its complications.

  • Open spina bifida: with the spinal cord exposed, the opening can be closed before birth or a few days after birth.
  • Hydrocephalus: if a baby with spina bifida has hydrocephalus, the fluid can be drained by a valve. Treatment of hydrocephalus may prevent vision problems and blindness.
  • Tethered spinal cord: The spinal cord can be separated from surrounding tissues.
  • Urinary and bowel infections and incontinence: myelomeningocele suffer from nerve damage that prevents complete emptying of the bladder. This can be solved by inserting a catheter into the bladder.

Which specialist treats nervous system malformations?

There are several specialists who can diagnose and treat nervous system malformations.

In terms of diagnosis, the specialist in charge of studying and diagnosing the disease is the specialist in Neurosurgery. Once oriented to the treatment of the pathology, the Neuroradiologist and in some cases the specialist in Medical Oncology can treat the malformations of the nervous system.