Myelomeningocele, also called meningomyelocele, is the name given to a severe course of spina bifida. In this condition, the spinal column splits, causing parts of the spinal cord to protrude.
What is a meningomyelocele?
A myelomeningocele is a congenital spinal cord malformation. It is caused by inadequate closure of the neural tube. Along with meningocele and rhachischisis, meningomyelocele represents a manifestation of spina bifida aperta. The membranes of the spinal cord (meninges) are located together with the spinal cord outside the vertebral arch. This is recognizable as a protrusion (zele) below the skin. The Latin term spina bifida means “open back”. It refers to a malformation in the spinal cord and spinal column region. The spinal cord and spinal column emerge from the neural tube during the development of the human embryo. Therefore, spina bifida or meningomyelocele is counted among the neural tube defects, which are among the most common congenital malformations. In Germany, there are about 500 births with a neural tube defect every year.
Causes
Myelomeningocele is caused by a defect in the formation of the neural tube. This causes an inhibitory malformation in the central nervous system. As a result of this defect, parts of the spinal cord (myelon) as well as the spinal meninges pass through the vertebral arches that have not closed, which is why they are exposed without protection. Physicians call a spine with unclosed vertebral arches a “split spine” (spina bifida). If the spinal meninges and spinal cord are exposed without protection, it is called spina bifida aperta. If the spinal cord and spinal column malformation is hidden under the protective skin, it is a spina bifida occulta. If only the meninges leak through the gap, resulting in the formation of a bulging sac filled with cerebrospinal fluid, doctors refer to it as a meningocele. In contrast, when the spinal cord and meninges bulge together through the vertebral arches in the posterior direction, a myelomeningocele results. It has not yet been possible to determine what causes a myelomeningocele. Folic acid metabolism and genetic factors are under discussion. Folic acid is a water-soluble vitamin that belongs to the B vitamins. In earlier years, physicians assumed that neural tube defects were caused by a folic acid deficiency. However, more recent studies argue against this. Myelomeningocele, for example, occurred even when folic acid levels in the body were normal. Instead, disturbances in folate metabolism or the development of autoantibodies directed against the folic acid receptors are thought to be conceivable causes.
Symptoms, complaints, and signs
Myelomeningocele can cause numerous different symptoms. For example, partial or complete sensory disturbances or paralysis often appear in the sacrum or lumbar spine. The severity of these depends on the extent of the neural tube defect. The paralyses in turn cause a dysbalance in the skeletal muscles. As a result, there is shortening of the muscles and misalignment of the foot, knee and hip joints. Other possible complaints caused by a meningomyelocele may include voiding disorders of the rectum and urinary bladder, often leading to urinary tract infections. The occurrence of seizure disorders such as epilepsy, decubital ulcers on the back, and the appearance of a so-called tethered cord may also occur. Another typical feature of a myelomeningocele is the development of hydrocephalus. In this case, cerebrospinal fluid (brain water) accumulates due to the myelomeningocele, which causes the brain ventricles to dilate. This in turn results in damaging pressure on the adjacent brain tissue as well as impairment of the nervous tissue. It is not uncommon for affected children to also suffer from orthopedic complaints such as scoliosis. It usually forms at the transition between the thoracic and lumbar spine or at the border area between the lumbar spine and the sacrum. Furthermore, the formation of humps, disorders of respiratory function and lung infections occur.
Diagnosis and course of the disease
Spina bifida or myelomeningocele can often be detected during pregnancy with the help of sonography (ultrasound examination).In this way, the doctor can usually identify the malformation through the ultrasound without any problems. Furthermore, it is possible to perform an alpha-1-fetoprotein test between the 16th and 18th week of pregnancy in the mother’s blood or amniotic fluid. Alpha-1-fetoprotein (AFP) is a protein produced by the fetus. If it is present in elevated amounts, this is considered an important indication of a neural tube defect. The course of a myelomeningocele depends on its extent. If comprehensive medical care is provided, affected children can achieve a high life expectancy and a good quality of life. However, in severe cases there is a risk of complications such as inflammation of the spinal cord and spinal meninges. Untreated hydrocephalus is considered to be of particular concern, often resulting in severe disorders.
Complications
Myelomeningocele significantly limits the daily life of the affected person and reduces the quality of life. In most cases, patients suffer from sensory disturbances and paralysis. These can occur in various regions of the body and lead to significant restrictions in activities. Movement restrictions can also occur as a result of myelomeningocele, so that those affected are dependent on the help of other people in their daily lives. Furthermore, shortening of the muscles also occurs and the patients suffer from complaints of the urinary tract and bladder. Various infections can cause pain during urination. It is not uncommon for those affected to also suffer from epilepsy and ulcers, which can potentially limit life expectancy. Due to the symptoms of myelomeningocele, depression or psychological complaints also continue to occur. The lungs may also be affected by this disease, resulting in infections or breathing difficulties. As a rule, treatment of myelomeningocele must be carried out immediately after birth. In doing so, consequential damages in adulthood can be limited. With early and successful treatment, there are usually no complications and the patient’s life expectancy is not reduced.
When should you see a doctor?
When neurologic deficits, paralysis, or spasticity occur in the limbs, medical advice is needed. A myelomeningocele represents a serious condition that requires prompt medical diagnosis and treatment, depending on the findings. Therefore, even the first indications of a condition must be medically clarified. Individuals who notice a decrease in motor skills or other symptoms that rapidly become more severe are best to speak with their primary care physician. Further treatment is provided by a specialist in internal diseases or by an orthopedist. People who already suffer from a disease of the back should inform the responsible medical professional when the mentioned symptoms appear. The same applies to people who suffer from myelomeningocele from birth and notice an increase in symptoms. Pregnant, elderly and sick people are best to talk to a specialist. In addition to general practitioners and mentioned specialists, myelomeningocele is also treated by physiotherapists and therapists. Therapy is usually done in a specialist center for back problems.
Treatment and therapy
Successful treatment of a myelomeningocele requires consistent collaboration among neurosurgeons, neurologists, pediatricians, urologists, orthopedists, occupational therapists, and physical therapists. One of the most important therapeutic measures is the closure of the open spine. This must be done by surgery as early as 24 to 48 hours after birth to prevent infection of the spinal cord and spinal meninges. During surgery, the surgeon relocates the spinal cord components located in the myelomeningocele back into their correct position. Skin, muscles and muscle sheaths are used to cover the defect. If hydrocephalus is also present, placement of a shunt is required. In this way, the circulatory disturbance of the cerebrospinal fluid along with increased intracranial pressure can be rebalanced.
Outlook and prognosis
How a myelomeningocele affects affected individuals depends largely on the extent to which the spine and spinal cord are malformed. Children with a myelomeningocele can still have a fairly long life expectancy and quality of life if they receive the comprehensive medical treatment they need.The cognitive development of affected children is usually not impaired in the presence of the disease alone. Possible complications of the disease include, in particular, inflammation of the affected spinal meninges as well as the spinal cord. Kidney inflammation and arthrosis may also occur in patients. In the event that the disease also leads to hydrocephalus and this remains untreated, the brain of the affected person is exposed to increasing pressure as the disease progresses. This can result in very severe disorders and even acute danger to life for patients. Affected children with a pronounced myelomeningocele are often dependent on professional medical care for the rest of their lives. However, it is particularly important to weigh up the possible advantages and disadvantages of the various therapies. This is important so that the children with the disease can live as normal a life as possible and also be integrated into society in the best possible way. For this reason in particular, it is also advisable to ensure that all necessary surgical treatments are completed before the affected children start school.
Prevention
As a preventive measure against myelomeningocele, the intake of folic acid during pregnancy is recommended. This is thought to reduce the risk of spina bifida by about 50 percent.
Follow-up
In most cases, affected individuals with a myelomeningocele have few and also very limited options for direct follow-up care. Therefore, the affected person should ideally see a physician at an early stage to prevent further occurrence of complications or other symptoms. In this case, self-healing cannot occur either, so that treatment by a doctor is always necessary. In many cases, myelomeningocele sufferers are dependent on the help and support of their own family in their daily lives. Psychological support can also have a very positive effect on the further course of this disease and prevent depression or other psychological upsets. In most cases, the disease itself can be alleviated by a minor surgical intervention. After such an operation, the affected person should in any case rest and take care of his body. Efforts or stressful and physical activities should be avoided. Regular checks and examinations by a doctor are also very important and necessary after the operation. There are no other aftercare measures available to the patient with myelomeningocele. In this regard, the disease itself does not reduce the patient’s life expectancy.
What you can do yourself
Once a myelomeningocele has been diagnosed, treatment must be initiated promptly. Parents of affected children should ensure that the surgical wound heals well after back surgery and inform the doctor if in doubt. In addition, physiotherapeutic and occupational therapy measures must be initiated. Suffering children often show malpositions that should be corrected immediately. To support the medical treatment, which is a considerable burden for the child, an individual diet can be implemented. Animal products such as milk and natural yogurt reduce back pain, while vegetables such as kale or arugula strengthen bones. Lamb’s lettuce, spinach, brown rice, eggs and other foods rich in vitamin B and vitamin K should also be on the menu. If hydrocephalus is also present, a longer hospital stay is required. The child often needs therapeutic support as well. During puberty, the external abnormalities can be a great burden, which is why parents should act in a supportive and understanding manner. Myelomeningocele is a long-lasting condition that often requires lifelong treatment. Parents should have the child examined by a physician on a regular basis and ensure that close monitoring continues into adulthood.
