Spina bifida: what, symptoms, causes, treatment and prevention

Spina bifida: what, symptoms, causes, treatment and prevention

Health

Spina bifida is a congenital malformation in the spine due to a defect in the closure of the fetal neural tube, resulting in symptoms such as a patch of hairy skin or dimple in the spine where the defect occurred, difficulty learning and walking or swallowing, or fecal incontinence. or urinary.

This condition may be caused by folic acid deficiency during pregnancy, and/or genetic factors, resulting in a failure in the development of the spinal column and an incomplete formation of the spinal cord and the structures that protect it.

The treatment of spina bifida is carried out by a pediatrician, neuropediatrician or neurologist and varies according to the type of spina bifida, and in the most severe cases it involves surgery to reintroduce and close the defect in the spinal column, in addition to physiotherapy, to promote the child’s independence.

Illustrative image number 1

Spina bifida symptoms

The main symptoms of spina bifida are:

  • Patch of hairy skin or dimple on the spine where the defect occurred;
  • Hydrocephalus;
  • Muscle tension, stiffness or weakness;
  • Motor deficit;
  • Difficulty learning and walking or swallowing;
  • Fecal or urinary incontinence;
  • Inability to move or paralysis of the legs.

Furthermore, in the case of spina bifida cystica, it is still possible to verify the presence of an exposed sac over the spinal column formed by the exit of the meninges, cerebrospinal fluid and/or neural elements, such as nerves or spinal cord.

Symptoms vary depending on the type of spina bifida and its severity, and may affect the middle or lower part of the spine.

How to confirm the diagnosis

Spina bifida can be identified by the obstetrician during pregnancy, during prenatal consultations, by performing a fetal ultrasound examination and measuring the levels of alpha-fetoprotein in the woman’s blood, during weeks 16 to 18 of pregnancy, which in cases of spina bifida is altered.

In some cases, your doctor may recommend amniocentesis to confirm the diagnosis. However, due to the risk of this type of exam, ultrasound is still the most used for diagnosing spina bifida. Find out how amniocentesis is performed.

Make an appointment with an obstetrician in the nearest region:

Taking care of your health has never been easier!

After birth, the diagnosis of spina bifida is made by a neonatologist through a physical examination and imaging tests, such as magnetic resonance imaging.

Possible causes

Spina bifida is caused by a defect in the closure of the neural tube during fetal development, generally between 17 and 30 days of pregnancy, and is believed to be related to genetic and environmental factors.

The main factors that can increase the risk of developing spina bifida are:

  • Maternal folic acid deficiency;
  • Maternal obesity;
  • Diabetes;
  • Use of valproic acid;
  • Chromosomal syndromes and genetic polymorphism.

In addition, other environmental factors that may increase the risk of spina bifida are maternal zinc deficiency, consumption of alcoholic beverages or use of illicit drugs in the first three months of pregnancy, and use of anesthetic or analgesic medications without medical advice during pregnancy. .

Types of spina bifida

Spina bifida can be classified into a few types, according to their characteristics, the main ones being:

  • Spina bifida occulta: It is characterized by incomplete closure of the spinal column in which there is no involvement of the spinal cord and the structures that protect it. It generally does not present neurological problems and is more common in the lower part of the spine, and an abnormal presence of hair and a spot in this region can be observed. See more about spina bifida occulta.
  • Meningocele: It is the mildest form of cystic spina bifida, as the protrusion on the baby’s back only involves the structures that protect the spinal cord, such as the meninges and cerebrospinal fluid, with the spinal cord remaining inside the vertebrae, as is normal. The protrusion is covered by the skin and in this case the baby does not present neurological problems because the conduction of nerve impulses occurs normally;
  • Myelomeningocele: is the most serious form of cystic spina bifida, as the bump on the baby’s back contains the meninges, cerebrospinal fluid, spinal cord or nerves. The protrusion is not covered by the skin, being open and, in this case, the baby presents neurological problems because the transmission of nerve impulses does not occur.

Thus, myelomeningocele is the most serious type of spina bifida and can cause problems such as leg paralysis, changes in sensitivity below the lesion, mobility problems, urinary and fecal incontinence and learning problems.

How the treatment is carried out

The treatment of spina bifida is carried out by a pediatrician, neuropediatrician or neurologist and varies according to the type, and treatment is not normally necessary in the case of spina bifida occulta.

In cases of cystic spina bifida, treatment involves surgery that must be performed in the first days of the child’s life to reintroduce all the structures inside the spine and close the defect in the spine. However, this surgery is not always able to prevent some neurological problems.

In the case of myelomeningocele, immediately after birth until surgery, the baby must lie face down so that the open wound is covered with compresses soaked in saline solution to avoid infection.

In addition to surgery, physiotherapy for spina bifida cystica is a very important treatment option, and aims to help the child to be as independent as possible, helping them to walk or use a wheelchair, prevent the development of contractures and deformities and control the muscles of the bladder and intestines.

How to prevent

Spina bifida can be prevented with the use of folic acid supplements during pregnancy, and it should preferably be started before trying to get pregnant.

Therefore, it is important to consult an obstetrician when planning a pregnancy and having prenatal consultations, taking folic acid in the doses recommended by the doctor, throughout the pregnancy, as per medical advice, to ensure the healthy development of the baby. See the importance of folic acid during pregnancy and how to take it.

Possible complications

The most common complications of spina bifida are frequent urinary infections, acute kidney failure or urosepsis, which is when the urinary infection spreads to the blood, or meningitis.

Furthermore, other complications are scoliosis, chronic pain, epilepsy, increased risk of bone fractures, muscle contractures, decreased sensitivity, sleep apnea or latex allergy, for example.

These complications vary depending on the type and severity of spina bifida.