Spina bifida and hydrocephalus in cases of open spine

During the third to sixth weeks of pregnancy, the embryo’s spine and spinal cord develop. They originate from the neural tube, an embryonic tissue structure. For this reason, spina bifida is classified as a neural tube defect.

Normally, the two vertebral arches fuse with the vertebral body to form a ring. This ring forms the posterior boundary of the vertebral foramen. The spinal cord, which is surrounded by the meninges, is located within the vertebral foramen.

In cases of spina bifida, the vertebral arches do not close completely, resulting in a spinal cleft. These closure defects most commonly affect the lower part of the spine, namely the lumbar spine and the sacrum.

Spina bifida is the second most common congenital malformation. However, in Central Europe, it occurs in only about one in every thousand children. Girls are affected slightly more often than boys.

In medicine, two forms are distinguished:

• Spina bifida occulta (Latin: occulta = hidden) and
• Spina bifida aperta (Latin: aperta = open, visible), also known as myelocele or myelomeningocele.

In the more common form, spina bifida occulta, only the vertebral arch is split, without affecting the spinal cord. As a result, the malformation is not visible from the outside and is often discovered only through incidental X-ray examinations.

Spina bifida occulta generally does not require treatment and rarely causes symptoms.

In spina bifida aperta, not only are the vertebral arches split, but the spinal cord and/or the meninges are also split. In this condition, the spinal cord often protrudes in a sac-like manner beyond the spinal canal. The spinal cord may be covered by a thin membrane, or it may be completely exposed.

In spina bifida, parts of the spinal cord may protrude outward © Nattapon | AdobeStock

The symptoms and complications in early childhood and adulthood can vary greatly. They depend on where the spinal cleft occurs and whether the spinal cord is affected.

Spina bifida occulta often causes no symptoms at all, as the spinal cord is not affected by the cleft.

The situation is different with spina bifida aperta. However, even in this case, there are significant variations in the severity of symptoms.

There may be only mild difficulties with walking. Typical complications include

• muscle paralysis,
• leg weakness,
• sensory disturbances,
• joint deformities and misalignments, as well as
• disorders of the gastrointestinal system.

Bladder dysfunction is common. Urinary tract infections and problems with urination (e.g., incontinence) are typical complications. In the worst-case scenario, paraplegia may result.

A condition that often occurs alongside spina bifida is hydrocephalus. Due to impaired circulation of cerebrospinal fluid, cerebrospinal fluid accumulates in the brain. Hydrocephalus can lead to impaired cognitive function and epileptic seizures.

The cause of this neural tube defect remains unknown to this day. Genetic factors are thought to play an important role. If a child has already been born with spina bifida, the risk for a second child increases by about 40 percent.

External factors also appear to contribute to spina bifida. A folic acid deficiency is considered a significant risk factor. Doctors recommend that women with a folic acid deficiency take folic acid supplements even before planning a pregnancy.

Furthermore,

• medications for epilepsy,
• gestational diabetes, and
• maternal obesity

contribute to the malformation. Women with epilepsy should discuss alternative treatments with their doctor.

Spina bifida may be suspected before birth through amniocentesis. However, this test does not provide 100% certainty.

Ultrasound examinations starting in the 12th week of pregnancy are generally more reliable. They can detect spina bifida at an early stage. A blood test for the mother in the 16th week of pregnancy can also help establish a diagnosis.

After birth, severe spina bifida is visible to doctors with the naked eye. In this case, the newborn’s back is severely arched. The specific extent of the malformation is determined using various procedures, such as X-rays and computed tomography (CT) scans.

Doctors from many specialties work together to provide a comprehensive evaluation of the child. These include, among others, pediatric neurologists and pediatric orthopedists.

Treatment for spina bifida depends on the severity of the malformation.

In cases of mild spina bifida, treatment is often not necessary. Treatment for more severe forms is provided through an interdisciplinary approach by

• pediatricians,
• pediatric surgeons,
• neurosurgeons,
• neurologists,
• orthopedic surgeons,
• Pediatric urologists,
• speech-language pathologists,
• physical therapists, and
• psychologists.

The goal is for the child to achieve good mobility so that they can participate in daily life with virtually no limitations. An open spine is surgically closed by doctors shortly after birth to prevent germs from entering the spinal cord.

In cases of hydrocephalus, a catheter is inserted to allow cerebrospinal fluid to drain. A catheter may also be inserted for bladder dysfunction. Walking and standing can be made easier with various orthopedic aids. Surgery can also correct certain deformities.

The treatment of severe spina bifida involves lifelong, multidisciplinary care for those affected.

What is spina bifida?

Spina bifida is a congenital malformation of the spine, often referred to as “spina bifida.” In this condition, the vertebral arches do not close completely during pregnancy. Forms of spina bifida include spina bifida occulta, spina bifida cystica, and spina bifida aperta.

What are the different types of spina bifida?

The most common forms of spina bifida include spina bifida occulta and spina bifida aperta. The most severe form of spina bifida is myelomeningocele, in which the spinal cord and its membranes are affected. Another rare form is myeleschisis.

How is spina bifida diagnosed?

Spina bifida is often diagnosed prenatally through ultrasound examinations during pregnancy. Signs of the condition often appear in the lumbar spine and sacrum. Postnatal examinations are used to determine the exact severity, possible damage, and associated conditions such as hydrocephalus.

How is spina bifida treated?

Spina bifida is usually treated with surgery shortly after birth or even prenatally. The goal of spina bifida treatment is to close the open spine and prevent further damage to the spinal cord. Many children with spina bifida also require assistive devices such as orthoses or crutches, as well as long-term medical care.

Can spina bifida be prevented?

A major risk factor is a folic acid deficiency during pregnancy. Taking folic acid even before conception can help reduce the risk of spina bifida. Nevertheless, the most common cause of congenital physical disability cannot always be completely prevented.