Spina bifida: Symptoms, causes, diagnosis, and treatment

Spina bifida is a condition where the bones in the vertebral column do not fully cover the spinal cord, leaving it exposed. Symptoms range from mild to severe, and it can affect physical and intellectual development.

It is a congenital problem, present before birth, and it is caused by the incomplete closing of the embryonic neural tube. It is a neural tube defect.

There are four main types of spina bifida: myelomeningocele, spina bifida occulta, closed neural tube defects, and meningocele. Myelomeningocele is the most serious type, and symptoms can be severe. In spina bifida occulta, symptoms may be barely noticeable.

Surgery and other treatment options can improve the quality of life for a person with severe symptoms. This article will look at the symptoms, causes, and treatment for the most serious type, myelomeningocele.

Fast facts about spina bifida

Spina bifida is a congenital condition in which the spinal column is exposed.

Myelomeningocele is the most serious type and it is present around 60 births in every in 100,000.

Exposure means the spinal column is more at risk of infection.

Excess cerebrospinal fluid can build up and result in hydrocephalus, and this increases the chances of learning difficulties.

A low intake of folic acid before and during pregnancy has been linked to spina bifida.

Treatment options include surgery, physical therapy, and assistive devices.

What is spina bifida?

In spina bifida, a split in the vertebral column leaves the neural tube exposed.
In spina bifida, a split in the vertebral column leaves the neural tube exposed.

During the first month after conception, the embryo develops a primitive tissue structure known as the neural tube.

This structure gradually develops into bones, nerves, and tissue. These eventually form the nervous system, the spinal column, and the spine, a ridge of bone that protects and surrounds the nerves.

In spina bifida, the neural tube and spinal column do not develop properly. The spine does not close fully, and the spinal column remains exposed along several vertebrae.

A sac forms on the fetus’ back as the membranes and spinal cord push out. The sac may be covered with meninges, or membranes.

Out of 4 million babies born in the United States (U.S.) each year, spina bifida affects between 1,500 and 2,000 of them.

Types

There are four main types of spina bifida:

Occulta: This is the mildest form. Most patients have no neurological signs or symptoms. There may be a small birthmark, dimple or tuft of hair on the skin where the spinal defect is. The person may never know they have spina bifida unless a test for another condition reveals it by chance.

Closed neural tube defects: In this version, there can be a variety of potential defects in the spinal cord’s fat, bone, or meninges. In many cases, there are no symptoms; however, in some, there is partial paralysis and bowel and urinary incontinence.

Meningocele: The spinal cord develops normally, but the meninges, or protective membranes around the spinal cord, push through the opening in the vertebrae. The membranes are surgically removed, usually with little or no damage to nerve pathways.

Myelomeningocele: Myelomeningocele is the most severe form of spina bifida. In this condition, the spinal cord is exposed, causing partial or complete paralysis of the body below the opening. The symptoms are outlined in detail below.

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Symptoms

An infant who is born with spina bifida may have or develop:

weakness or paralysis in the legs

urinary incontinence

bowel incontinence

a lack of sensation in the skin

a build up of cerebrospinal fluid (CSF), leading to hydrocephalus, and possibly brain damage

The nervous system will also be more prone to infections, some of which can be life-threatening.

CSF is a watery fluid that flows through the cavities inside the brain and also around the surface of the brain and the spinal cord. If there is too much CSF, this can lead to hydrocephalus, pressure on the brain, and ultimately brain damage.

If the opening in the vertebrae occurs at the top of the spine, there is a higher chance of complete paralysis in the legs and other problems with movement elsewhere in the body. If the openings are in the middle or the base of the spine, symptoms tend to be less severe.

Symptoms of myelomeningocele

Myelomeningocele is the most severe form of spina bifida. If hydrocephalus is present, it increases the chance of learning problems. A range of symptoms can occur.

Cognitive symptoms: Awareness, thinking, learning, judging and knowing are known as cognition. Problems in the neural tube can have a negative impact on brain development. If the brain’s cortex, and especially the frontal part, does not develop properly, cognitive problems can arise.

Type 2 Arnold-Chiari malformation: This is an abnormal brain development involving a part of the brain known as the cerebellum. This may cause hydrocephalus. It can affect language processing and physical coordination.

Learning difficulties: People with spina bifida have normal intelligence. However, learning difficulties can occur, leading to problems with attention, solving problems, reading, understanding spoken language, making plans, and grasping abstract concepts.

Coordination: There may also be problems with visual and physical coordination. Doing up buttons or shoelaces can be difficult.

Paralysis: Most patients have some degree of paralysis in their legs. In cases of partial paralysis, leg braces or a walking stick may be necessary. A person with total paralysis will need a wheelchair. If the lower limbs are not exercised, they can become weak, leading to dislocated joints and misshapen bones.

Bowel and urinary incontinence: These are common.

Meningitis: There is a higher risk of meningitis among people with spina bifida. This can be life-threatening.

Other problems: In time, the individual may experience skin problems, gastrointestinal problems, latex allergies, and depression.

Skin can be more easily damaged if the person lacks sensation in the legs. They may injure or burn themselves without realizing.

Treatment

Treatment depends on several factors, mainly how severe the signs and symptoms are.

Surgical options

Surgery to repair the spine: This can be done within 2 days of birth. The surgeon replaces the spinal cord and any exposed tissues or nerves back into the newborn’s body. The gap in the vertebrae is then closed and the spinal cord sealed with muscle and skin.

If bone development problems occur later, such as scoliosis or dislocated joints, further corrective surgery may be needed. A back brace can help correct scoliosis.

Prenatal surgery: The surgeon opens the uterus and repairs the spinal cord of the fetus, usually during week 19 to 25 of pregnancy. This type of surgery may be recommended to reduce the risk of spina bifida worsening after delivery.

Cesarian-section birth: If spina bifida is present in the fetus, delivery will probably be by cesarean section. This is safer for the exposed nerves.

Hydrocephalus: Surgery can treat a buildup of cerebrospinal fluid in the brain. The surgeon implants a thin tube, or shunt, in the baby’s brain. The shunt drains away excess fluid, usually to the abdomen. A permanent shunt is usually necessary.

Further surgery may be needed if the shunt becomes blocked or infected, or to install a larger one as the child grows.

Physical and occupational therapy

Physical therapy: This is vital, as it helps the individual become more independent and prevents the lower limb muscles from weakening. Special leg braces may help keep the muscles strong.

Assistive technologies: A patient with total paralysis of the legs will need a wheelchair. Electric wheelchairs are convenient, but manual ones help maintain upper-body strength and general fitness.

Leg braces can help those with partial paralysis.

Computers and specialized software may help those with learning problems.

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