~~Neural tube closure defects (congenital spinal malformations) during the formation of the spinal cord and spine are generally called dysraphism. This is the inability of tissues that should normally join together.
Spinal dysraphism is generally divided into two parts.
1. Spina bifida occulta (Closed)
2. Spina bifida aperta (Open / cystic)
In closed spina bifida malformation, there is a defect in the posterior elements of the spine. However, there is no herniation in meningeal and neural structures. These structures, located outside the spine, extend towards the spinal canal. In the physical examination of the spinal region, there is no obvious sac formation as in myelomeningocele.
What is myelomeningocele?
Myelomeningocele (Open spina bifida) is a congenital developmental deficiency of the spine and spinal cord. In this malformation, meningeal and neural structures herniate outward in any region of the spine, often in the lumbar and sacral regions, due to insufficient development. These herniated structures appear as a sac containing cerebrospinal fluid, which is sometimes open and sometimes surrounded by a very thin membrane. There are forms of open spina bifida malformation expressed by different names. However, when open spina bifida is mentioned among these forms, the first thing that comes to mind is myelomeningocele malformation.
Myelomeningocele sac is in the form of a thin membrane and is connected to the spinal canal. It contains neural structures (spinal cord and nerves) and cerebrospinal fluid. However, many anomalies related to the spinal cord, spine and other organs and systems may accompany this congenital malformation.
Is the cause of myelomeningocele malformation known?
Spina bifida occurs in the first 28th day of pregnancy, when the mother is not even aware of her pregnancy. Although the exact cause of meningomyelocele is not known, genetics has an important place in the etiology. However, among other accused factors, use of anti-epileptic drugs, especially valproic acid, various analgesic drugs, folic acid deficiency and other nutritional disorders, alcohol and cigarette use, presence of heavy metals in drinking water, hyperthermia can be counted. It is stated that there is a significant decrease in the incidence of myelomeningocele, especially in babies of mothers who use folic acid.
How common is myelomeningocele?
The incidence of myelomeningocele and other open spinal malformations is similar in the world and in our country. It is seen at a rate of 1-3 / 1000. Familial transmission is important in the emergence of this malformation. A person with dysraphic siblings and parents is more likely to be dyslexic than the normal population.
What are the methods used in diagnosis?
Myelomeningocele and other spinal malformations can also be diagnosed during pregnancy. When the pregnant mother suspects spinal dysraphism in her routine controls, the diagnosis can be made by analyzing the amniotic fluid and looking at the alpha-fetoprotein level and acetylcholine esterase levels. However, by experienced physicians 16-18 of pregnancy. Both myelomeningocele and other spinal malformations can be recognized in the USG performed in weeks. Today, in parallel with the development of magnetic resonance imaging (MRI) techniques, we can have very detailed information about these malformations while the baby is still in the mother’s womb. If it cannot be detected in these examinations, a definitive diagnosis is made at birth.
What are the symptoms and signs in this congenital malformation? Are there any other accompanying disorders?
Myelomeningocele is seen in the form of a sac filled with cerebrospinal fluid in the child’s back and waist following birth, which can be of different sizes, containing neural structures. However, babies with myelomeningocele may be accompanied by hydrocephalus, scoliosis (curvature of the spine), deformities in the feet and hands, which we call chiari malformation, the sagging of the cerebellum and brain stem towards the spinal canal, the disorder in the cerebrospinal fluid circulation. In the neurological examinations, excessive growth in the head of the babies, impaired consciousness, respiratory disorders, sensory defect depending on the level of the malformation, paralysis in the legs, sphincter defects can be detected.
How is myelomeningocele malformation treated?
The treatment of myelomeningocele patients actually starts with the diagnosis when the baby is in the womb. This is a long, troublesome and conscious planning is a treatment process. In this treatment process, especially parents, neurosurgeons, orthopedics, psychiatry, physical therapy and rehabilitation clinics take place.
Perhaps the most important factor accused in the formation of myelomeningocele is folic acid deficiency. Therefore, it has been shown in publications that eliminating folic acid deficiency significantly reduces the risk of spina bifida.
Parents who apply with a family history of spina bifida or myelomeningocele should be told that the probability of developing this malformation in their children is high. In such high-risk pregnancies, folic acid treatment should be started and genetic counseling should be offered.
When the diagnosis of intrauterine myelomeningocele is made, parents are naturally very anxious and worried during this period. Parents should be informed about the disease and the treatment after the baby is born. In this period, there are clinics or physicians who offer termination of pregnancy as an option in our country and in the world. However, I am of the opinion that babies with intrauterine malformations have the right to live. Necessary precautions should be taken to ensure that the baby is born safely, and a cesarean delivery should be performed in a fully equipped hospital where the neonatal unit and neurosurgery are located. Radiological examination of the myelomeningocele sac should be performed after clinical evaluation in the hours following birth. Both spinal and cranial imaging should be performed to detect other developmental disorders accompanying myelomeningocele malformation in radiological imaging. These evaluations should be completed within the first 24-48 hours after birth, and myelomeningocele disease should be treated with surgical intervention without wasting time, unless there is a situation that would prevent him from being operated on.
Surgical intervention for myelomeningocele disease should be performed in centers where microsurgical techniques are applied. The aim of the surgery is to cosmetically correct the malformation, release the spinal cord and nerves, and eliminate the contact of sterile cerebrospinal fluid with the external environment, and a functional correction to establish the normal anatomical integrity. After the surgical intervention for the myelomeningocele sac, it may be possible to perform a series of operations to correct other malformations such as hydrocephalus and chiari. Effectively performing these surgical interventions by experienced neurosurgeons is important, as well as performing well in the post-operative physical therapy and rehabilitation process is one of the important factors that increase the chances of survival of the patients.
