Spina Bifida: Symptoms, Causes & Treatment

Spina bifida is a congenital malformation of the spine caused by incomplete closure of the baby’s neural tube during fetal development. This can lead to symptoms such as a patch of hair or a small dimple on the lower back where the defect occurred.

It can also cause learning difficulties, trouble walking or swallowing, and fecal or urinary incontinence. Spina bifida may be related to folic acid deficiency during pregnancy and/or genetic factors.

Treatment for spina bifida is guided by a multidisciplinary team and varies by type. In more severe cases, surgery may be needed to close the spinal defect, along with physical therapy to help promote the child’s independence.

Spina bifida symptoms

The main symptoms of spina bifida are:

• A patch of hair or a small dimple on the lower back

• Hydrocephalus

• Muscle tightness, stiffness, or weakness

• Motor impairment

• Learning difficulties and trouble walking or swallowing

• Fecal or urinary incontinence

• Inability to move the legs or paralysis of the legs

In cases of cystic (open) spina bifida, there may also be a visible sac on the spine. This sac is formed by the protrusion of the meninges, cerebrospinal fluid, and/or neural structures, such as nerves or the spinal cord.

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

Confirming a diagnosis

Spina bifida may be detected during pregnancy by an obstetrician during prenatal care. According to the American College of Obstetricians and Gynecologists (ACOG), screening for fetal structural defects can include a second-trimester ultrasound, ideally between 18 and 22 weeks of pregnancy, with or without second-trimester maternal serum alpha-fetoprotein (AFP) testing.

If screening results suggest spina bifida, a detailed ultrasound is usually performed to evaluate the baby’s spine and other structures. In some cases, the doctor may also recommend amniocentesis to help confirm the diagnosis or provide additional information.

After birth, spina bifida is diagnosed by a neonatologist through a physical exam and imaging tests, such as MRI.

Possible causes

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

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

• Maternal folic acid deficiency

• Maternal obesity

• Diabetes

• Use of valproic acid

• Chromosomal syndromes and genetic polymorphisms

Other environmental factors that may increase the risk of spina bifida include zinc deficiency, alcohol use, illicit drug use, and taking certain medications during pregnancy without medical guidance.

Main types

Spina bifida can be classified into different types according to its characteristics. The main types are:

1. Spina bifida occulta

Spina bifida occulta is characterized by incomplete closure of the spine, without involvement of the spinal cord or the structures that protect it.

In general, this type of spina bifida does not cause neurological problems and is more common in the lower spine. An abnormal patch of hair or a mark may be seen in this area.

2. Meningocele

Meningocele is the mildest type of cystic spina bifida. In this condition, the bulge on the baby’s back contains only the protective coverings of the spinal cord (the meninges) and cerebrospinal fluid, while the spinal cord itself stays correctly positioned inside the vertebrae.

The bulge is covered by skin. In this case, the baby does not have neurological problems because nerve signals are transmitted normally.

3. Myelomeningocele

Myelomeningocele is the most severe form of cystic spina bifida. In this condition, the bulge on the baby’s back contains the meninges, cerebrospinal fluid, and parts of the spinal cord and/or spinal nerves.

The bulge is not covered by skin and remains open. This can lead to neurological problems because nerve signals are not transmitted properly.

Myelomeningocele can cause problems such as leg paralysis, changes in sensation below the lesion, difficulty moving, urinary and fecal incontinence, and learning difficulties.

Treatment options

Treatment for spina bifida is guided by a pediatrician, pediatric neurologist, or neurologist, and may involve a multidisciplinary team depending on severity.

In cases of open spina bifida, treatment usually involves surgery performed in the first few days of the child’s life. The goal is to protect the exposed spinal cord and surrounding structures and close the defect in the spine.

However, this surgery does not always prevent neurological problems. In cases of myelomeningocele, right after birth and until surgery is performed, the baby is typically positioned face down so the open lesion can be covered with sterile dressings soaked in saline solution to help prevent infection.

In addition to surgery, physical therapy is a very important part of treatment. It aims to help the child become as independent as possible by supporting mobility, including walking or wheelchair use, preventing contractures and deformities, and helping manage bladder and bowel function.

How to prevent

According to the CDC, taking 400 mcg of folic acid daily before and during early pregnancy can help prevent neural tube defects, including spina bifida. Ideally, supplementation should begin before trying to conceive.

For this reason, it is important to see an OB-GYN or midwife when planning a pregnancy and to attend prenatal visits. Folic acid should be taken at the dose recommended by the provider throughout pregnancy to help support healthy fetal development.

Possible complications

The most common complications of spina bifida are frequent urinary tract infections (UTIs), acute kidney failure, urosepsis, which occurs when a urinary tract infection spreads to the bloodstream, and meningitis.

Other possible complications include scoliosis, chronic pain, epilepsy, increased risk of bone fractures, muscle contractures, decreased sensitivity, sleep apnea, and latex allergy.

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