What is spina bifida and how does it affect the sacral region. What are the different types of spina bifida. How is spina bifida diagnosed and treated. What are the long-term effects of spina bifida in the sacral region. How can spina bifida be prevented during pregnancy.

Understanding Spina Bifida: A Neural Tube Defect

Spina bifida is a congenital condition that occurs when the neural tube fails to close properly during early fetal development. This results in incomplete formation of the spine and spinal cord. The sacral region, located at the lower end of the spine, is commonly affected by this condition.

The neural tube typically closes by the 28th day after conception. In cases of spina bifida, the embryonic cells that form the neural tube and eventually the spine do not fully develop. This leads to a lack of bony coverage for the spinal cord due to defects in vertebrae formation.

Prevalence and Risk Factors

Spina bifida is considered the most common severe birth defect, occurring in approximately 1 in every 1,500 to 2,000 live births. The most severe form, myelomeningocele, affects about 1 in 4,000 live births. Recent data from Minnesota (2014-2018) shows a rate of 3 babies per 10,000 births born with spina bifida without anencephalus.

While the exact cause remains unknown, several risk factors have been identified:

• Folic acid deficiency
• Maternal nutrition
• Exposure to radiation
• Certain drugs and chemicals
• Genetic predisposition

Types of Spina Bifida: From Mild to Severe

Spina bifida manifests in various forms, ranging from mild to severe. The three main types are:

1. Spina Bifida Occulta

This is the mildest form of spina bifida. External signs may include:

• A small hairy patch
• A soft skin-colored mass called a lipoma
• A small dimple in the skin

Spina bifida occulta is relatively common, affecting about 1 in 10 people. Most individuals with this condition are unaware they have it and experience no health problems.

2. Meningocele

In this type of spina bifida:

• A small defect in the vertebrae allows fluid-filled meninges to protrude
• The spinal cord and nerves remain intact
• The skin over the meningocele is often open

3. Myelomeningocele

This is the most severe and common type of spina bifida. Characteristics include:

• Exposure of spinal cord neural tissue through a bony defect in one or more vertebrae
• Absence of protective muscle and skin over the spinal cord
• Permanent nerve damage resulting in varying symptoms

Diagnosis and Detection of Spina Bifida

Early diagnosis of spina bifida is crucial for proper management and treatment. How is spina bifida detected? Several methods are used:

1. Prenatal screening: Blood tests and ultrasounds can detect potential neural tube defects during pregnancy.
2. Physical examination: After birth, visible signs such as a dimple or hairy patch on the lower back may indicate spina bifida occulta.
3. Imaging studies: X-rays, CT scans, or MRI scans can provide detailed images of the spine and spinal cord.

Can spina bifida be diagnosed before birth? Yes, in many cases, spina bifida can be detected prenatally through maternal serum alpha-fetoprotein (MSAFP) screening and detailed ultrasound examinations.

Treatment Options for Spina Bifida in the Sacral Region

Treatment for spina bifida varies depending on the type and severity of the condition. What are the primary treatment approaches?

Spina Bifida Occulta

Generally, spina bifida occulta does not require treatment. However, if a tethered cord is present, surgical intervention may be necessary to release the cord and prevent complications such as pain, difficulty walking, or loss of bladder control.

Meningocele and Myelomeningocele

Treatment for these more severe forms of spina bifida often involves:

• Surgical closure of the spinal defect within 24-48 hours after birth
• Placement of a shunt to drain excess cerebrospinal fluid and prevent hydrocephalus
• Ongoing medical care to manage associated complications
• Physical therapy and rehabilitation to improve mobility and function

Is fetal surgery an option for spina bifida? In some cases, prenatal surgery to repair spina bifida in utero has shown promising results in reducing the need for shunts and improving motor outcomes.

Long-Term Effects and Management of Sacral Spina Bifida

The long-term effects of spina bifida in the sacral region can vary widely. What are the potential challenges faced by individuals with this condition?

• Mobility issues: Depending on the level of nerve involvement, individuals may experience weakness or paralysis of the lower limbs.
• Bladder and bowel dysfunction: Many people with spina bifida require assistance with bladder and bowel management.
• Sensory deficits: Loss of sensation in the lower body can increase the risk of pressure sores and injuries.
• Orthopedic complications: Scoliosis, clubfoot, and hip dislocation are common orthopedic issues.
• Cognitive and learning difficulties: Some individuals may experience challenges with attention, executive function, and learning.

How can these challenges be managed? A multidisciplinary approach is essential, involving:

• Regular medical check-ups
• Physical and occupational therapy
• Assistive devices and mobility aids
• Educational support and interventions
• Psychological counseling and support

Prevention Strategies: The Role of Folic Acid

Can spina bifida be prevented? While not all cases can be prevented, research has shown that folic acid supplementation can significantly reduce the risk of neural tube defects, including spina bifida.

How much folic acid is recommended? The Centers for Disease Control and Prevention (CDC) recommends that all women of childbearing age consume 400 micrograms of folic acid daily, starting at least one month before conception and continuing through early pregnancy.

Studies have shown that adequate folic acid intake can prevent 50-70% of neural tube defects, even among mothers who have previously had a child with a neural tube defect. This highlights the importance of folic acid supplementation as a preventive measure.

Support and Resources for Families Affected by Spina Bifida

Living with spina bifida can be challenging for both individuals and their families. What support systems are available?

• Medical professionals: Specialized healthcare providers offer ongoing care and management.
• Support groups: Organizations like the Spina Bifida Association (SBA) provide valuable resources and community support.
• Educational programs: Many hospitals and clinics offer educational sessions for parents and caregivers.
• Financial assistance: Various programs may help cover medical expenses and assistive devices.

How can families access these resources? Many healthcare providers can offer referrals to local support groups and organizations. Additionally, online communities and national organizations provide extensive information and networking opportunities.

Advances in Research and Future Prospects

Ongoing research in the field of spina bifida is paving the way for improved treatments and outcomes. What are some promising areas of study?

• Fetal surgery techniques: Refinement of in-utero repair procedures to minimize risks and improve outcomes.
• Stem cell therapy: Exploration of stem cell applications to regenerate damaged neural tissue.
• Gene therapy: Investigation of genetic interventions to prevent or treat spina bifida.
• Assistive technology: Development of advanced mobility aids and adaptive equipment.

How might these advances impact individuals with spina bifida? As research progresses, we can anticipate more effective treatments, improved quality of life, and potentially even preventive measures for future generations.

In conclusion, while spina bifida in the sacral region presents significant challenges, advancements in medical care, supportive technologies, and ongoing research offer hope for improved outcomes and quality of life for affected individuals. Early detection, comprehensive treatment, and access to support resources are crucial elements in managing this complex condition.

Spina Bifida (also called myelodysplasia or neural tube defect)

Condition Description

Spina bifida occurs in the first month after fertilization as the result of a failure of part of the spine to fully form. Spina bifida is part of a group of birth defects called neural tube defects. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception. The embryonic cells that form the neural tube, and eventually form the spine, do not fully develop. The spinal cord therefore lacks a bony covering due to defects in the vertebrae bone formation. The nervous system tissue of the spinal cord can also be affected. This can occur anywhere along the length of the spinal column. Those that occur in the spine are categorized under the term “spina bifida”, and 80% of these are in the lumbar and sacral areas (lower back) of the spine. Spina bifida occurs in various forms of severity. The three forms of spina bifida range from very minor to severe:

1. Spina Bifida Occulta (SPI-nuh. BIF-id-uh. oh-KULT-uh): A small hairy patch, or a soft skin colored mass called a lipoma, or a small dimple in the skin may overlie the affected bony malformation and be the only external sign of spina bifida occulta.
2. Meningocele (muh-NING-go-SEEL): This type of defect in the vertebrae is very small and fluid-filled meninges protrude through the opening in the bone. The spinal cord and nerves are intact.
3. Myelomeningocele or meningomyelocele: This is the most common type of spina bifida and it is typically more severe in nature. Some of the spinal cord’s neural tissue is exposed through a bony defect in one or more vertebrae. There is an absence of muscle and skin that would normally protect the spinal cord, and nerve damage is permanent, resulting in varying symptoms.

The cause of spina bifida remains unknown. Folic acid deficiency has been implicated in causing neural tube defects. Maternal nutrition, exposure to radiation, drugs, and chemicals as well as a genetic predisposition may be other causes of neural tube defects. If mothers took 400 micrograms daily of Vitamin B folic acid at least 1 month before and during pregnancy, 50-70% of neural tube defects could be prevented, even among mothers who have previously had a child with a neural tube defect.

Spina bifida is the most common of the severe birth defects, occurring in one of every 1500-2000 live births. The most severe variant, myelomeningocele, occurs in one of every 4000 live births. Our program has been tracking spina bifida without anencephalus – a condition that has a defect in the formation of the skull and the brain – among live births in select counties since 2005.

Using data from Minnesota births between 2014-2018, we found 96 babies were born with spina bifida without anencephalus, resulting in a rate of 3 babies per 10,000 births. Annually, about 24 babies were born with spina bifida without anencephalus. Parental education and support are essential, and local, regional and national organizations may be very helpful.

Parental education and support are essential, and local, regional and national organizations may be very helpful.

Condition specific organizations

• Centers for Disease Control and Prevention
• Spina Bifida Association (SBA)
• Complex Child

Spina Bifida Occulta (for Parents)

en español: Espina bífida oculta

Medically reviewed by: Jeffrey W. Campbell, MD

Neurology at Nemours Children’s Health

What Is Spina Bifida Occulta?

Spina bifida occulta is when a baby’s backbone (spine) does not fully form during pregnancy. The baby is born with a small gap in the bones of the spine.

The condition is common and happens in about 1 out of 10 people. Usually, it causes no health problems.

What Are the Signs & Symptoms of Spina Bifida Occulta?

Most people with spina bifida occulta (SPY-nuh BIF-ih-duh uh-KUL-tuh) do not even know they have it. They may have a dimple, patch of hair, or a red mark at the base of the spine.

Some people with spina bifida occulta also have a tethered cord. A tethered cord is a spinal cord that can’t move freely inside the spinal canal. Sometimes a tethered cord needs to be released with surgery. Otherwise, it can stretch (especially during a growth spurt) and lead to pain, trouble walking, and loss of bladder (pee) control.

What Are the Other Types of Spina Bifida?

Other kinds of spina bifida include:

• Meningocele: This is when a sac that contains spinal fluid pushes through the gap in the spine. The spinal cord is in its normal place in the spinal canal. The skin over the meningocele often is open.
• Myelomeningocele: This is when a sac that contains part of the spinal cord, its covering, and spinal fluid pushes through the gap in the spine and the skin. It’s visible on the baby’s back.  

How Does Spina Bifida Occulta Happen?

All types of spina bifida happen in the first month of pregnancy. At first, a fetus’ spinal cord is flat. It then closes into a tube called a neural tube. If this tube does not fully close, the baby is born with spina bifida. In spina bifida occulta, the spinal cord and its covering stay in their normal position inside the spinal canal.

What Causes Spina Bifida Occulta?

Doctors don’t know exactly why some babies get spina bifida occulta. A woman may be more likely to have a baby with spina bifida occulta if she:

• takes some types of seizure medicines during pregnancy
• already has had a baby with spina bifida
• has diabetes

Not getting enough of the vitamin folic acid early in pregnancy is linked to meningocele and myelomeningocele, but not spina bifida occulta.

How Is Spina Bifida Occulta Diagnosed?

Spina bifida occulta usually doesn’t cause symptoms. So, it’s often found when an X-ray or other imaging study of the spine is done for a different reason. 

Sometimes spina bifida is diagnosed with an ultrasound after a doctor sees a dimple, patch of hair, or red patch at the base of a baby’s spine.

How Is Spina Bifida Occulta Treated?

Most people with spina bifida occulta do not need medical treatment. Those with a tethered cord might have surgery to let the spinal cord move more freely.

What Else Should I Know?

Most babies born with spina bifida occulta go on live a normal, active life. Help your child get any needed medical care.

Medically reviewed by: Jeffrey W. Campbell, MD

Date reviewed: April 2019

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Spina bifida (spina bifida) – treatment, symptoms, causes, diagnosis

Spina bifida (spina bifida) is a complex congenital defect in the development of the spinal cord and spine. This is a type of open neural tube defect in which there is an abnormal development of the back of the spine, the spinal cord, the surrounding nerves, and/or the fluid-filled sac that surrounds the spinal cord.

Spina bifida (back bifida) is an incurable, life-long condition that affects the neuromuscular and musculoskeletal systems.

This defect varies by type and ranges from moderate to severe.

Children with this defect may need corsets as the body grows, and in severe cases, a wheelchair.

Treatment is mainly aimed at slowing down the deformity and maintaining motor activity.

The defect may occur along the entire length of the spine and may present as part of the spinal cord and surrounding tissues protruding outward rather than inward. Approximately 85 percent of defects occur in the lower back and 15 percent in the neck and thoracic region. Surgically, it is possible to restore the integrity of the spinal column, but nerve damage cannot be restored, and if they are pronounced, then patients have various degrees of paresis of the lower extremities. The higher the defect on the spinal column, the more severe the nerve damage and movement disorders (paresis and paralysis).

According to studies, this developmental anomaly occurs in 7 cases per 10,000 newborns. There are several types of spina bifida that have varying degrees of severity.

• Latent spina bifida (spina bifida occulta) – the most moderate form, in which there are no obvious signs of malformation and changes in the skin. In this form, at least one vertebra changes, but the nerves and spinal cord do not bulge. A child at birth may have a spot or depression in the area of ​​the anomaly. And usually, the baby will not have symptoms. With this form of anomaly (as well as with others), there may be an anomaly in the development of the spinal cord, characterized by attachment of the spinal cord to the spine to the end of the lumbar region, when normally the spinal cord ends at the level of the first lumbar vertebrae and sags freely without attachment to the spine.
• Meningocele is a moderate (and the most common) anomaly in which the spinal canal is not properly closed and the meninges (membranes that cover the spinal cord) bulge outside the bony structures of the spinal canal, but the spinal cord itself remains intact. The cystic mass is covered with skin. Most children with meningocele have normal limb function, but may have partial paresis or abnormalities of the bladder or bowel. With this anomaly, there is often underdevelopment of the spinal cord. Almost all patients with this anomaly require surgery to close the defect and free the spinal cord.
• Lipomeningocele is an anomaly in which fatty tissue is attached to the spinal cord and puts pressure on it. Children with this form of anomaly may not have severe nerve damage, but may have bladder and bowel dysfunction. In these cases, surgical treatment is also often used.
• Myelomeningocele: the most severe common form and associated with spina bifida. The spinal canal is not closed, and the bulging mass consists of the meninges, pathologically altered spinal cord, and nerves. In addition, in this area the skin is also underdeveloped. In children with this form of spinal cord splitting, paresis below the defect and dysfunction of the pelvic organs are observed in whole or in part. In addition, nerve damage and other pathologies are observed.

Symptoms

The symptoms of spina bifida vary greatly, depending on the form and severity of the individual child. For example, at birth:

• In latent splitting (spina bifida occulta), there may be no obvious signs or symptoms—only a small spot, depression, or birthmark.
• With a meningocele, there will be a sac-like protrusion that will be located on the back in the spinal region.
• With myelomeningocele, there will also be a protrusion, but with altered skin, there will be a release of nerves and spinal cord.

In severe spina bifida with localization in the lumbar spine, the following symptoms may occur: paralysis of the lower extremities, dysfunction of the bladder, intestines. In addition, such patients, as a rule, may have other developmental anomalies:

• Hydrocephalus occurs in 75 percent of cases of myelomeningocele and this condition requires surgical endoscopic treatment in order to restore normal CSF flow or a shunt is applied to drain excess fluid from the brain.
• Chiari anomaly (displacement of the brain into the upper cervical vertebrae) can cause pressure on the brainstem, which can manifest as impaired speech, swallowing, and motor disorders in the limbs.
• Underdevelopment of the spinal cord Orthopedic problems including scoliosis, kyphosis, hip dysplasia (congenital dislocation), combined deformities, clubfoot, etc.
• Precocious puberty (especially in girls with spina bifida and hydrocephalus).
• depression and other neurotic conditions
• obesity
• dermatological problems
• developmental anomalies of the urinary tract.
• heart disease
• vision problems

Diagnosis

Diagnosis may be performed during pregnancy to evaluate the fetus for spina bifida. These include:

• Amniocentesis: A procedure in which a long, thin needle is inserted through the mother’s abdomen into the amniotic sac to remove a small amount of amniotic fluid for examination. The fluid is analyzed to determine the presence or absence of an open neural tube defect. Although the analysis is very reliable, it does not allow diagnosing small or closed defects.
• Prenatal ultrasound: this technique, being absolutely harmless, allows you to non-invasively assess the condition and visualize the internal organs, vessels, tissues of the fetus. Sometimes it is possible to diagnose not only spina bifida, but also other anomalies.
• Blood tests: It is recommended that blood tests be performed between 15 and 20 weeks of gestation for all women who have not previously had a child with an open neural tube defect and who have no family history of the condition. A blood test for alpha-fetoprotein and other biochemical parameters can determine how high the risk of developing spinal anomalies is.
• At birth, severe cases of spina bifida are evident by the presence of a fluid-filled sac bulging on the back of the newborn. Visual indicators of mild forms (spina occulta) may be a hairy patch on the skin or a depression along the spine. Unusual weakness or lack of coordination in the lower extremities also suggests spina bifida. In children and adults, this anomaly is often diagnosed during routine studies or, if necessary, to differentiate neurological symptoms using instrumental research methods (MRI, CT, radiography).

Causes

During pregnancy, the human brain and spinal column begin to form as a flat sheet of cells that folds into a tube called the neural tube. If all or part of the neural tube fails to close, then the open area is called an open neural tube defect. An open neural tube is open in 80 percent of cases, and is covered by bone or skin in 20 percent of cases. The cause of spina bifida (spina bifida and other defects) remains unknown, but is most likely due to a combination of genetic, nutritional, and environmental factors, such as:

• maternal dietary deficiency of folic acid (vitamin B) during pregnancy (sufficient folic acid intake during pregnancy may reduce the risk of this anomaly).
• maternal uncontrolled diabetes
• Certain medicines (antibiotics, anticonvulsants).
• A genetic factor is usually only relevant in 10 percent of cases.
• Mother’s age
• What kind of births on the account (firstborns are more at risk).
• Socioeconomic status (children born in lower socioeconomic families are at higher risk).
• ethnicity
• obesity or excessive consumption of alcohol by a pregnant woman
• When exposed to pregnant hyperthermia in the early stages (sauna, jacuzzi).

Treatment

Spina bifida can be treated immediately after birth. If this defect is diagnosed prenatally, then a caesarean section is recommended in order to reduce possible damage to the spinal cord during the passage of the birth canal. Newborns with meningocele or myelomeningocele are recommended to have surgery within 24 hours of birth. With such an operation, the bone defect is closed and it is possible to preserve the function of the intact part of the spinal cord. Unfortunately, surgical treatment cannot restore the function of damaged nerves as they are irreversible.

Currently, there are clinics that perform prenatal surgery to close the defect, but the techniques have not yet found wide application. The main task of treatment, both in a non-severe form and in the postoperative period, is to preserve the functions of both the musculoskeletal system and the functions of the bladder and intestines. If necessary, orthoses, therapeutic exercises, physiotherapy are used.

In cases where spina bifida is detected by chance during X-ray (MRI, CT) examination, measures must be taken to reduce the risk of spinal cord injury in the area of ​​the spine where this defect exists.

Operative treatment in adults is used only in the presence of complications. Basically, treatment in adults is aimed only at preventing possible complications (exercise therapy, physiotherapy, wearing a corset).

information from professional doctors of the Median Medical Center

The most common congenital malformation is a violation of the formation of the spine and spinal cord, united by the concept Spinal dysraphia, or defects in the development of the neural tube, have a common term Spina Bifida (Spina Bifida, in Latin – non-fusion / spina bifida), often combined with developmental disorders of the spinal cord and spinal roots in different variations, from the simplest to the most severe. Occurs during the first 28 days of pregnancy when the neural tube of the fetus is forming. The neural tube is the part of the embryo from which the brain and spinal cord are formed. It can be observed in various parts of the spine. It is most common in the lower thoracic, lumbar, or sacral region and usually extends over 3–6 vertebral segments. Some children are asymptomatic, others develop severe neurological and physical dysfunction below the site of the lesion.

The vice is commonly referred to as the “snowflake condition” because no two cases are the same.

The worldwide prevalence of Spina Bifida is estimated at 4.8 cases per 10,000 live births. The frequency of spinal hernias in different parts of the spine varies significantly: 2-5% is localized in the cervical region, 2-3% in the thoracic region, 25% in the lumbar region, and 65-70% in the lumbosacral region.

Currently, the concept of “Spinal dysraphia” combines various developmental disorders of the spinal cord and spine, depending on the severity, magnitude of spina bifida, localization, level of spinal cord injury, and in accordance with the characteristics of the development of the defect, the following types of Spina Bifida are distinguished:

• Spina Bifida occulta
• Spina Bifida cystica aperta – open spina bifida with the formation of cystic spinal hernia;
• Rhachischisis posterior (totalis et partialis) – spina bifida and soft tissues with spreading of the spinal cord, which occur throughout the spine or only in some part of it.

Hidden form (Spina Bifida occulta) is the simplest type of spina bifida, and at the same time, the spinal cord and spinal roots can be born in a physiological norm, the person is healthy, but even under this (Here) pathology of the development of the spinal cord and roots can be hidden, which can cause health problems, and more on that later.

The anatomical essence of latent spina bifida consists in incomplete fusion of the vertebral arch, caused by a violation of ossification and, as a rule, does not manifest itself clinically, does not require medical attention. Often they are an accidental “find” during X-ray examination of the spine, and people did not even know that they had this malformation. This pathology occurs in approximately 20% of Caucasians. With a hidden form, there may be no visual defects on the back. It is characterized by only a small defect or gap in the vertebrae that form the spinal column. Often this form of pathology is so moderately expressed that it does not cause any concern. Most often, this form of Spina Bifida – hidden spinal clefts are localized in the lumbosacral spine. The skin in the area of ​​cleft vertebral arch is not changed.

However, 1-2 out of 1000 patients with this form of defect is combined with a pathology that leads to the appearance and progression of symptoms of damage to the spinal cord, roots and cone of the spinal cord.

On the skin in the area of ​​non-fusion of the vertebrae, external signs (stigmata) can very often be observed – a pigment spot, hyperpigmentation, soft tissue hemangioma, a spot in the form of a delicate scar, retraction of the dermis as a small indentation / dimple on the skin, local growth of dark hair (hypertrichosis), subcutaneous wen (lipoma), fistulous tract (dermal sinus), teratoma.

In such cases, the congenital malformation of the latent Spina Bifida has concomitant changes that lead to muscle weakness and slow atrophy of the lower extremities, foot deformities, sensory and trophic disorders with impaired motor function of the legs, impaired posture, pain in the lumbosacral region, urinary and intestinal dysfunction, bedwetting and other manifestations. It is these cases of Spina Bifida occulta that require surgical care.

This is how the following pathologies manifest themselves: Diastematomyelia, Spinal Lipoma, Dermal Sinus, or a combination of the latter, with the manifestation of the Fixed spinal cord clinic.

Diastematomyelia (Diastematomyelia) , the term comes from the Greek “diastematos” – gap and “myelos” – brain) – “Split spinal cord” is a hidden malformation of the development of the spine and spinal cord, characterized by the formation of a bone, cartilage or fibrous septa or strand emanating from the arches, the vertebral body and partially dividing the spinal cord in the longitudinal direction into two halves (hemichords), while there is a central canal in each of them. In this place, the spinal cord is fixed, which delays its growth and upward displacement.

There are two variants of this pathology:

type I – when both the spinal cord and the dural sac are divided into two separate “sleeves”; two hemichords are located in their own dural sacs, separated by an extradural bone spine or cartilaginous bridge;

Type II – when the spinal cord itself is divided into two halves by an intradural fibrous, cartilaginous cord and they are located in a single dural sac, this is called diplomamyelia.

A feature of the anomaly of the septum is the inclusion of abnormal vessels and vestigial nerves. The vast majority of diastematomyelia is located on the lower thoracic – lumbar spine. Diastematomyelia in 40 – 50% of cases is combined with myelomeningocele, dermal sinus, thickened terminal thread. In 85%, a combination with spinal defects (vertebral segmentation, vertebral body hypoplasia) was noted. The period of absence of clinical manifestations of the disease and the manifestation of neurological symptoms depend on the anatomical features of the defect and the growth rate of the child. In most cases, primary neuroorthopedic symptoms appear between 3.5 and 7 years of age.

Lipomeningocele in children (lipomyeloshisis, lipomeningocele, spinal cord cone lipoma, spinal cord lipoma) is one of the most common variants of the latent form of spinal dysraphism, the content of which is degenerate adipose tissue and tender fat with elements of the spinal cord and usually has a fatty subcutaneous mass . With this type of pathology, Spina Bifida, a fatty layer (lipoma, lipomatous tissue, fibroma), which extends from the back side through a defect – a gap or hole in the spine presses on the spinal cord, which leads to disruption of the organs.

Depending on the anatomical relationship of lipomas with the spinal cord, the following forms are distinguished: dorsal lipoma, caudal lipoma, mixed lipoma. In relation to the dura mater and the spinal canal, they are divided into intradural, intra, and extradural.

At birth, in most cases, lipomas of the conus of the spinal cord are asymptomatic (70%) and are manifested by skin signs: subcutaneous lipoma, angioma, skin pits, asymmetry of the gluteal fold. The presence or absence of neurological symptoms depends on the degree of involvement of the cone, cauda equina roots, and terminal filament in the developmental anomaly. Periods of occurrence and progression of neurological and functional symptoms of the disease appear during periods of active growth of the child (1st – from 0 to 4 years, growth of 24 cm in the 1st year of life).

Spinal dermal (skin) sinus (Dorsal dermal sinus) is a latent spinal malformation, represented by a fistulous tract formed by the skin ectoderm and spreading between the skin and structures of the brain and spinal cord.

Dermal sinus presents as a small dimple, skin depression, or punctate orifice, sometimes with sanious or clear discharge, which is often associated with an area of ​​hyperpigmented, angiomatous skin or hypertrichosis and occurs in the median site or, less commonly, in the paramedian site. Soft tissue asymmetries and bone anomalies are common.

Lesions most commonly occur in the lumbosacral region, but can be seen anywhere in the midline – in the cervical, thoracic, cranial, and genital areas. Lateral congenital cutaneous sinuses may occur on the buttocks. The hole is not always located with a fistulous tract and may be located at the distance of several segments. Skin changes are the most common reason for seeking medical attention.

Identified dermal sinus in the first months of life, usually asymptomatic. In 60% of cases, the dermal sinus becomes infected, which leads to the development of intra, extramedullary abscesses, meningitis, and as a result, the appearance of a severe neurological deficit. The development of neurological symptoms is also associated with the development of the fixed spinal cord syndrome. Dermal sinus is also associated with Diastematomyelia, Teratoma, Myelomeningocele.

Open form (Spina Bifida aperta) spina bifida, is much less common of all types of congenital malformations of Spina Bifida (incidence from 1 to 2 per 1,000 newborns in the world) and is a more severe degree of defect in the development of the spine, combined with dysplasia of the spinal cord, membranes and roots and is called spinal brain herniation.

Depending on the severity of spina bifida and the degree of involvement in the pathological process (the content of the hernial sac) of nerve structures, the following types of spinal hernias are divided:

• Meningocele: only the meninges protrude;
• Myelocele: protruding only spinal cord tissue;
• Meningomyelocele: Tissues of the meninges and spinal cord protrude.

Thus, the protruding hernial sac in this variety of Spina Bifida as Spinal Hernia may contain the meninges (Meningocele), the spinal cord (Myelocele), or both (Myelomeningocele).

Depending on the content of the hernial sac, it is a defect in any part of the back with a hernial protrusion. It occurs in various parts of the spine, more often in the lower thoracic and lumbosacral. It is combined with other developmental anomalies.

Spinal hernia is a severe malformation characterized by congenital non-closure of the posterior wall of the spinal canal with simultaneous hernial protrusion of the dura mater covered with skin and containing cerebrospinal fluid or the spinal cord and/or its roots. The complex of anatomical and functional disorders that occur with a spinal hernia is conditionally united by the term “Myelodysplasia”.

Meningocele is a moderate defect in which only the spinal membranes bulge through a defect in the spine, forming a hernial sac or cyst filled with cerebral fluid (liquor), without elements of the nervous tissue (spinal cord and roots). This is the most benign form of spinal hernias, since the spinal cord is formed correctly in most cases. Meningocele is usually located in the lumbosacral spine, sometimes reach large sizes, have a short stalk. The spinal cord and roots are usually not changed and occupy their normal physiological position, which is typical for the cervicothoracic localization. In the lumbosacral location of the defect, the hernial sac may include the final thread, single loops of functionally intact roots, often fixed to the walls of the dome of the hernial sac and stretching the lower parts of the spinal cord. Lumbosacral Meningoceles are covered with skin and are not associated with paralysis of the lower extremities, as well as paralysis of the bladder and rectum and Hydrocephalus.

With meningocele, the severity of the patient’s condition is less pronounced than in the case of myelomeningocele, but minor bladder and bowel dysfunctions are also possible, with clinical symptoms. This condition may require surgery, but it is not necessarily urgent in newborns, however, surgical treatment of this disease is still recommended for cosmetic and neonatal care reasons.

*Causes of meningocele include teratoma and Currarino syndrome. Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome, occurring in 60% of cases. Its presence can significantly affect the surgical treatment of these patients. Other potential presacral masses include presacral teratoma and intestinal cyst.

Myelocele is a rarer defect in which a hernial sac prolapses through a defect in the spine with a partially covered membranes, spinal cord and cerebrospinal fluid (only tissues of the spinal cord protrude). This is a spinal hernia in which the hernial sac contains a partially sheathed altered spinal cord and cerebrospinal fluid. The size of the myelocele can be different: a small protrusion or an extensive defect containing spinal cord tissue. The clinical picture of this type of spinal hernia consists of neurological symptoms and local manifestations in a certain place on the back. Myelocele is associated with paralysis or paresis of the lower extremities. Urinary and fecal incontinence, as well as in 80% of cases with Hydrocephalus. With sacral Myelocele, paresis of the lower extremities occurs in a smaller number of cases. Frequent accompanying anomalies are deformity of the legs, contractures of the lower extremities, kyphosis, anomalies in the development of the genitourinary system. Myelocele requires urgent surgical treatment, which should be carried out in the first hours after birth, because this is most likely to prevent Meningitis from ascending infection. In addition, the functioning nerve elements are preserved by repositioning the remaining parts of the nervous tissue and covering them with a dural sac, which favorably responds to maintaining mobility.

Myelomeningocele (MMC), Spina Bifida cystica , Spinal hernia is the most severe form of spina bifida in Spina Bifida, which is fixed in 75% of cases and can have the most serious consequences. This malformation consists in the fact that the spinal cord, nerves, spinal cord membranes and cerebrospinal fluid are pushed out through a defect in the spine and incomplete closure of the spinal canal. In severe cases, there is a splitting not only of the spine, but also of the spinal cord. The bone defect captures from 3 to 6-8 vertebrae. On the back of the child, more often in the lumbar region, there is a hernial sac that is not covered with muscles and skin, its wall can be the posterior surface of the spinal cord and is often covered with thinned epidermis (thinned skin, film). The meningeal membranes that cover the spinal cord also protrude through the opening, forming a sac that encloses the spinal cord, spinal roots, and CSF. The protruding part of the spinal cord, membranes and roots can often be damaged or not developed properly. The affected area looks rough, uneven and red.

Often this leads to rupture of the hernial sac with the outflow of cerebrospinal fluid (liquorrhea).

The severity of the neurological deficit is determined by the level of location, size, prevalence of the anomaly, the degree of damage to the spinal cord and nerves, the number of roots involved in the pathological process, which can blindly end in the wall of the hernial sac.

Depending on this, clinical symptoms may range from mild weakness and sensory disturbances in the lower extremities below the level of damage and pelvic disorders to gross paresis and deformities of the feet and total urinary and fecal incontinence.

Myelomeningocele in 80% of cases is accompanied not only by paralysis of the legs, but also by dysfunction of the bladder and intestines.

The higher the defect is located in the spine, the more functions it can potentially affect.

Paralysis at the level of Th22 is characterized by a complete absence of movements in the legs, as the level of spinal hernia formation decreases, intact muscle groups appear corresponding to the formed innervation dermatomes (dermatome is a skin area equipped with sensory neurons that arise from the ganglion of the spinal nerve), which certainly affects the degree of disturbance in the sensitive area and control of the function of the pelvic organs.

The location of spinal hernias along the length of the spinal column in 90% of cases is limited to the lumbosacral region. Thoracic and cervical localization of hernias are relatively rare.

The success of high social adaptation is probably higher in patients with a low spinal hernia and lower in children with a spinal hernia at the level of the thoracic spine.

Typical for all types and forms of spinal dysraphia is their posterior location with a defect in the posterior half ring of the spinal canal. Extremely rarely (less than 1% of cases), non-closure is formed on the anterior-lateral surface of the canal, and anterior spinal hernias occur.

This CNS malformation occurs in 60-85% of patients with hydrocephalus and Arnold-Chiari malformation type II. Hydrocephalus occurs because the cerebrospinal fluid (CSF) that protects the brain and spinal cord cannot circulate properly, causing it to accumulate, causing pressure and swelling. Left untreated, this can lead to brain damage.

In 15% of cases spinal hernia is combined with severe kyphotic deformity of the spine.

The appearance of new symptoms (pain syndrome, spinal deformity) or an increase in existing symptoms may be due to fixation of the spinal cord and spinal roots at the level of spinal hernia repair.

Rhachischisis is a gross developmental anomaly characterized by non-closure of the skin and spinal canal, absence of neurulation (formation of the neural plate and its closure into the neural tube) of the placode. This form is an example of a severe disorder of spinal cord neurulation (the spinal cord has not closed into a tube and gapes in a split spinal canal). With this pathology, there is a complete splitting of the soft tissues, spine, membranes and spinal cord. The spinal cord, not closed into a tube, lies in the form of a velvety mass of red color, consists of dilated vessels and elements of brain tissue. Posterior rachischisis is often combined with anterior (when not only the arches, but also the bodies of the vertebrae are split) and severe deformities of the brain and other organs. Most often, rachischisis is found in the lumbar region.

The clinical picture of rachischisis is represented by gross neurological symptoms in the form of paraplegia, anesthesia, dysfunction of the pelvic organs and mental retardation.

Fixed spinal cord (“Tethered spinal cord”) the name of the pathology is often denoted by an abbreviation consisting of the first letters of the term – FSM, as well as synonyms: stiff terminal or terminal thread syndrome, tethering syndrome, which means immobility, constancy.

This condition is manifested by an abnormally low location of the cone of the spinal cord (below the L2 vertebra) and is most often associated with a short, inelastic and thick terminal filament (“Tight filum terminale”), which, as it were, stretches the spinal cord and also causes circulatory disorders in it, which leads to the development of neurological and functional disorders.

Spinal Lipoma, Dermoid and Diastematomyelia (all of which are an “associated” Spina Bifida occulta complex) and Spinal Hernias can lead to a similar pathological condition.

There is also a concept as a diagnosis – “Tethered spinal cord syndrome” (SFCS) is an adaptation of the English term “the tethered spinal cord syndrome”.

The use of the word “tether” in the original name of the syndrome, meaning “tether” in literal translation, most accurately reflects the essence of the pathological process, which implies the tension of the terminal thread. It is the stretching of the spinal cord, which develops as a result of attachment and limitation of its mobility – fixation, that leads to a negative impact and the development of clinical manifestations of SFCS. In 85% of cases, tethering syndrome is observed in the lumbosacral region.

Fixed spinal cord syndrome (SFCS) is a complex of trophic, sensory and functional disorders and is detected in a progressive stage with severe symptoms associated with neurological (weakness, pain in the legs, gait disturbance, development of flaccid paralysis, paresis of the lower extremities), orthopedic disorders (asymmetry of the legs, musculoskeletal deformities, deformity of the feet, deformity of the spine) and violation m functions of the pelvic organs (incontinence or retention of urine and feces, urinary infections, and more).