A severe form of spina bifida is referred to as a myelomeningocele, also known as a meningomyelocele. This leads to a split in the spine, through which parts of the spinal cord protrude.
What is a meningomyelocele?
A myelomeningocele is a congenital malformation of the spinal cord. It is caused by insufficient closure of the neural tube. Along with meningocele and rhachischisis, the meningomyelocele is a form of open spina bifida. See eshaoxing for Medullary Cystic Kidney Disease Type 1 Definition and Meaning.
The membranes of the spinal cord (meninges) are located together with the spinal cord outside of the vertebral arch. This is recognizable as a protrusion (cele) under the skin. The Latin term spina bifida means “open back”. What is meant by this is a malformation in the spinal cord and spinal column region.
The spinal cord and vertebral column emerge from the neural tube during the development of the human embryo. Spina bifida or the meningomyelocele is therefore counted among the neural tube defects, which are among the most common congenital malformations. In Germany there are around 500 births with a neural tube defect every year.
A myelomeningocele is caused by a defect in the formation of the neural tube. This causes an inhibition malformation in the central nervous system. This defect allows portions of the spinal cord (myelon) and spinal cord membranes to protrude through the vertebral arches that have not closed, leaving them unprotected.
Doctors call a spine with unclosed vertebral arches a “split spine” (spina bifida). When the spinal cord membranes and spinal cord are unprotected, it is referred to as spina bifida aperta. If the spinal cord and spinal malformation is hidden under the protective skin, it is spina bifida occulta.
If only the meninges emerge through the gap, resulting in the formation of a bulging sac filled with cerebral fluid, doctors speak of a meningocele. On the other hand, if the spinal cord and meninges protrude backwards through the vertebral arches, a myelomeningocele develops.
What causes a myelomeningocele has not yet been determined. The folic acid metabolism and genetic factors are under discussion. Folic acid is a water-soluble vitamin that is one of the B vitamins. In the past, doctors assumed that neural tube defects were caused by a lack of folic acid.
However, more recent studies speak against it. Thus, myelomeningocele occurred even when the folic acid levels in the body were normal. Instead, disturbances in the folate metabolism or the development of autoantibodies directed against the folic acid receptors are assumed to be possible causes.
Symptoms, Ailments & Signs
A myelomeningocele can cause many different symptoms. Partial or complete sensory disturbances or paralysis often appear on the sacrum or the lumbar spine. How severe these are depends on the extent of the neural tube defect.
The paralysis in turn causes an imbalance in the skeletal muscles. As a result, the muscles shorten and the ankles, knees and hips become misaligned. Other possible symptoms of a meningomyelocele can be emptying disorders of the rectum and urinary bladder, which often lead to urinary tract infections.
The occurrence of convulsions such as epilepsy, decubitus ulcers on the back and the occurrence of a so-called tethered cord (tied up spinal cord) can also occur. Another typical feature of a myelomeningocele is the development of a hydrocephalus (hydrocephalus). Liquor (brain water) accumulates due to the myelomeningocele, which causes the cerebral ventricles to expand.
This, in turn, puts harmful pressure on the adjacent brain tissue and damages nerve tissue. It is not uncommon for those affected to sufferchildrenalso under orthopedic complaints like one scoliosis disorders of the respiratory function and lung infections occur.. 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, thetrainingof humps,
Diagnosis & course of disease
Spina bifida or myelomeningocele can often be detected during the course of pregnancy with the help of a sonography (ultrasound examination). The doctor can usually easily identify the malformation using the ultrasound. It is also possible to carry out 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 this is present in an increased amount, 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, the affected children can certainly 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 cord membranes. An untreated hydrocephalus, which often results in severe disorders, is considered to be particularly alarming.
The everyday life of the affected person is significantly restricted by the myelomeningocele and the quality of life is reduced. In most cases, the patients suffer from sensory disturbances and paralysis. These can occur in different regions of the body and lead to significant limitations in activities. The myelomeningocele can also cause movement restrictions, so that those affected are dependent on the help of other people in their everyday lives.
Shortening of the muscles also occurs and the patients suffer from problems with the urinary tract and the bladder. Various infections can cause pain when urinating. It is not uncommon for those affected to also suffer from epilepsy and ulcers, which can potentially reduce life expectancy. The symptoms of the myelomeningocele also lead to depression or psychological problems.
The lungs can also be affected by this disease, leading to infections or breathing difficulties. As a rule, treatment of the myelomeningocele must be carried out immediately after birth. Consequential damage 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 go to the doctor?
If neurological deficits, paralysis or spasticity in the limbs occur, medical advice is required. A myelomeningocele is a serious condition that requires prompt medical diagnosis and treatment based on findings. Therefore, the first indications of a disease must be medically clarified. People who notice a decrease in motor skills or other symptoms that get worse quickly are best advised to speak to their family doctor.
Further treatment is carried out by a specialist in internal diseases or by an orthopedist. People who already suffer from a back disease should inform the doctor responsible if the symptoms mentioned occur. The same applies to people who have been born with a myelomeningocele and notice an increase in symptoms. Pregnant, elderly and sick people are best advised to speak to a specialist. In addition to general practitioners and the specialists mentioned, myelomeningocele is also treated by physiotherapists and therapists. The therapy usually takes place in a specialist center for back problems.
Treatment & Therapy
Successful treatment of a myelomeningocele requires consistent collaboration between neurosurgeons, neurologists, pediatricians, urologists, orthopedists, occupational therapists, and physical therapists.
One of the most important therapeutic measures is the closure of the open back. This must be done surgically 24 to 48 hours after birth to prevent infection of the spinal cord and spinal cord membranes. During the operation, the surgeon moves the parts of the spinal cord located in the myelomeningocele back into their correct position.
Skin, muscles and muscle sheaths are used to cover the defect. If there is also hydrocephalus, a shunt must be placed. In this way, the circulatory disorder of the cerebrospinal fluid, including increased intracranial pressure, can be compensated for.
Outlook & Forecast
How a myelomeningocele affects those affected depends largely on how malformed the spine and spinal cord are. However, children with a myelomeningocele can have a fairly long life expectancy and quality of life if they receive the comprehensive medical care they need. The cognitive development of affected children is usually not impaired when the disease alone is present.
Possible complications of the disease include, in particular, inflammation of the affected spinal cord membranes and the spinal cord. Kidney infections and osteoarthritis can also occur in patients. In the event that the disease also leads to hydrocephalus and this is left untreated, the brain of those affected is exposed to increasing pressure as the disease progresses. This can result in very serious disorders and even acute danger to the patient’s life.
Affected children with a pronounced myelomeningocele are often dependent on professional medical care throughout their lives. However, it is particularly important to weigh up the possible advantages and disadvantages of the different therapies. This is important so that the sick children can live as normally as possible and are also integrated into society in the best possible way. For this reason in particular, it is also advisable that all necessary surgical treatments are completed before the affected children start school.
Taking folic acid during pregnancy is recommended as a preventive measure against myelomeningocele. This should reduce the risk of spina bifida by about 50 percent.
In most cases, those affected by a myelomeningocele have only a few and only very limited options for direct aftercare. Therefore, the affected person should ideally consult a doctor at an early stage in order to prevent further complications or other symptoms from occurring.
Self-healing can also not occur, so that treatment by a doctor is always necessary. In many cases, those affected are dependent on the help and support of their own families in their everyday life due to the myelomeningocele. Psychological support can also have a very positive effect on the further course of this disease and prevent depression or other mental upsets.
In most cases, the disease itself is alleviated by a minor surgical intervention. After such a procedure, the person concerned should definitely rest and take care of his body. Efforts or stressful and physical activities should be avoided.
Regular check-ups and examinations by a doctor are also very important and necessary after the procedure. Further follow-up measures are not available to patients with myelomeningocele. The disease itself does not reduce the patient’s life expectancy.
You can do that yourself
Once a myelomeningocele has been identified, treatment must be initiated promptly. After an operation on the back, the parents of affected children should ensure that the surgical wound has healed well and, if in doubt, inform the doctor.
In addition, physiotherapeutic and ergotherapeutic measures must be initiated. Sick children often show bad posture that should be corrected immediately. An individual diet can be carried out to support medical treatment, which is a significant burden for the child. Animal products like milk and plain yoghurt reduce back pain, while vegetables like kale or rocket strengthen bones. Lamb’s lettuce, spinach, brown rice, eggs and other foods that contain plenty of 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 the parents should be supportive and understanding. Myelomeningocele is a long-term condition that often requires lifelong management. Parents should have regular medical examinations of the child and ensure close monitoring continues into adulthood.