Myelomeningocele is a form of spinal dysraphism that occurs when the neural tube fails to close properly during embryonic development. The disorder is characterized by a protrusion of the spinal cord membranes and contents through a defect in the spine. Myelomeningocele can cause significant neurological impairment, including motor and sensory dysfunction, as well as various problems with bladder and bowel function. The condition is often accompanied by hydrocephalus and requires a multidisciplinary approach to treatment and rehabilitation. The most common form of the disorder occurs at the lumbar or sacral spine and appears as an external sac containing cerebrospinal fluid, membranes, and possibly neural structures.
History of the disease and interesting historical facts
The history of myelomeningocele research spans over a hundred years. The first reports of such defects were noted in medical literature in the late 19th century, when doctors began to systematize pathologies associated with the disruption of the formation of the neural tube. In the 1920s, scientists began to investigate possible causes associated with folate deficiency and their connection with this disease. Interestingly, with the development of perinatal medicine and the introduction of ultrasound examinations, it became possible to diagnose myelomeningocele before the birth of the child, which radically changed the approach to the management of high-risk pregnancies.
Epidemiology
The incidence of myelomeningocele varies by geographic region and ethnic group. Overall, the World Health Organization estimates the incidence to be about 0.5–1 per 1,000 live births. In countries with low levels of folate in the diet, the incidence may be significantly higher. For example, in some regions of Europe and Africa, the incidence may be as high as 2–4 cases per 1,000 live births. Studies have shown that the incidence of myelomeningocele has decreased since the introduction of folic acid supplementation programs in the 1990s. It is important to note that the disease is more common in girls than in boys, with a ratio of about 3:1.
Genetic predisposition to this disease
Myelomeningocele has a multifactorial etiology, including both genetic and exogenous factors. Ongoing studies show that certain genetic mutations, such as mutations in the MTHFR and RALDH2 genes, may increase the risk of developing this disease. These mutations affect folate metabolism and, therefore, the formation of the neural tube. In addition, a family history of cases of the disease may indicate a genetic predisposition, although the exact mechanisms of inheritance are not fully understood. The study of genetic markers and polymorphisms in genes responsible for neurodevelopment is becoming an increasingly important direction in the prevention and diagnosis of myelomeningocele.
Risk factors for the development of this disease
It is important to highlight several key risk factors that contribute to the development of myelomeningocele:
- Deficiency of B vitamins, especially folate, during pregnancy;
- Having a family history with diagrams is by no means unacceptable;
- Certain medications taken during pregnancy, such as anticonvulsants;
- Environmental factors including exposure to toxic chemicals;
- Infections during pregnancy, such as viruses, can interfere with the normal development of the neural tube.
Diagnosis of this disease
Diagnosis of myelomeningocele includes several stages and is based on a comprehensive approach:
- Initial symptoms may include: neurological impairment, lack of movement in the lower limbs, abnormalities in the structure of the back.
- Laboratory tests often include testing the pregnant woman's blood for alpha-fetoprotein levels, which may be elevated if spinal abnormalities are present.
- Radiological examinations, including ultrasound in early pregnancy and MRI after birth, can visualize the structure of the spinal cord and identify defects.
- Other diagnostic methods, such as genetic testing, may help identify a predisposition to the disease in an unborn child.
- Differential diagnosis requires the exclusion of other forms of dysraphism and associated developmental defects.
Treatment
Treatment of myelomeningocele is a complex process and includes:
- General treatment includes monitoring the child's condition, physical rehabilitation and psychological support.
- Pharmacological treatment is aimed at managing symptoms such as spasms and urinary problems.
- Surgical treatment often involves closure of the defect, which can be performed either in the neonatal period or at a later age, depending on the clinical situation.
- Other treatments may include the use of orthotic devices to improve mobility.
List of drugs used to treat this disease
Examples of drugs used for treatment:
- Baclofen – to control spasticity;
- Atorvastatin – for the management of concomitant metabolic disorders;
- Analgesics – to relieve pain;
- Drugs to stimulate the bladder.
Disease monitoring
Ongoing monitoring of patients with myelomeningocele includes:
- Regular follow-up examinations to assess neurological status;
- The prognosis depends on the level and severity of the defect;
- Possible complications include infectious diseases and organ dysfunction.
Age-related features of the disease
The course of myelomeningocele in different age groups demonstrates:
- In newborns, many symptoms may be hidden but appear as they grow and develop;
- Young children often have neurological disorders that are difficult to treat;
- During adolescence, patients may require additional support with learning and social interactions.
Questions and Answers
- What are the main symptoms of myelomeningocele? Major symptoms include neurological impairment, developmental delays, problems with urination and bowel movements, and muscle hypotonia.
- Can myelomeningocele be prevented during pregnancy? Yes, high intake of folic acid before and during pregnancy can significantly reduce the risk of developing this disease.
- What is the place of surgical treatment in the therapy of myelomeningocele? Surgical treatment is mandatory to close the defect, but postoperative rehabilitation is also critical to improve functional capabilities.
- What are the long term consequences of myelomeningocele? Complications can include neurological problems, urinary problems, infections, and delays in physical and mental development.
- What specialists may be involved in the treatment of myelomeningocele? Treatment may involve neurosurgeons, neurologists, physical therapists, speech therapists and psychologists.
