Encephalocele is a rare birth defect that occurs when the neural tube does not fully close during fetal development. The neural tube is a structure that forms during the third and fourth weeks of pregnancy and plays a critical role in forming the brain and spinal cord. Encephalocele means that when this tube fails to close, the brain protrudes through an opening in the skull. This condition can occur as a result of an interaction of genetic and environmental factors. Encephalocele is usually diagnosed by ultrasound before birth or by physical examination after birth. Symptoms can vary depending on the location and size of the herniated tissue and the type of brain tissue it contains.
Each case of encephalocele can be different, so it is important to consult a specialist in this situation. Encephalocele is a complex birth defect and requires consultation with a health professional for accurate diagnosis and appropriate treatment.
What Causes Encephalocele?
The main causes of encephalocele are a complex interaction of genetic, environmental and hereditary factors. The main causes that are effective in the formation of this condition:
Genetic Predisposition: Some cases of encephalocele may occur due to genetic factors. Individuals with a family history of neural tube defects may be at increased risk of encephalocele. This may be due to the effect of certain genetic mutations or variations.
Environmental Factors: There are some hypotheses that environmental factors may play a role in encephalocele formation. It is thought that factors such as environmental toxins, infections or radiation that the mother is exposed to during pregnancy may increase the risk of encephalocele. However, there is no definitive information on this subject yet.
Folic Acid Deficiency: Insufficient folic acid intake during pregnancy may increase the risk of neural tube defects. Folic acid plays an important role in the healthy closure of the neural tube. Therefore, taking folic acid supplements before and in the early stages of pregnancy can reduce the risk of encephalocele.
Hereditary Factors: Some cases of encephalocele may be inherited. Individuals with a family history of this type of birth defect may have a higher risk of encephalocele. However, exactly how hereditary factors work is still not fully understood.
What are the Symptoms of Encephalocele?
Encephalocele usually presents with certain symptoms, which can vary depending on the location and size of the herniated tissue and the type of brain tissue it contains. Symptoms may differ in each individual, but common symptoms include
Hydrocephalus: Encephalocele can block the normal flow of cerebrospinal fluid due to protruding brain tissue. When this happens, fluid in the brain can build up, leading to hydrocephalus. Hydrocephalus is characterized by symptoms such as headache, vomiting and prominent eye sockets.
Spastic Paraplegia: In some cases, individuals affected by encephalocele may develop spastic paraplegia in the arms and legs. This condition is characterized by muscle stiffness, loss of control and limitation of movement.
Microcephaly Encephalocele can affect the normal size of the head as brain tissue protrudes from the skull. Microcephaly means an unusually small head size.
Ataxia: Encephalocele can affect motor coordination, a condition called ataxia. There may be difficulty with motor movements such as walking and reaching.
Developmental Delay: Encephalocele often affects the normal development of the individual. There may be delays in language development, physical milestones and cognitive abilities.
Intellectual Disability: Encephalocele can cause intellectual disabilities by affecting brain tissue. However, not all individuals may have intellectual disabilities.
Vision Problems: Encephalocele can affect the eye nerves and cause vision problems. This can lead to slipped vision, blurred vision or other eye problems.
Epileptic Seizures: Epileptic seizures can occur in cases of encephalocele. Epileptic activity can occur due to the abnormal position of the brain tissue.
How is Encephalocele Diagnosed?
Encephalocele is usually diagnosed by clinical and imaging methods performed in the prenatal period or after birth. Routine ultrasonography during pregnancy is an important tool in detecting neural tube defects such as encephalocele. If the ultrasound is suspicious, more detailed methods such as fetal magnetic resonance imaging (MRI) can be used.
After birth, the diagnosis can be confirmed using imaging techniques such as computed tomography (CT) or MRI. Amniocentesis can be used to evaluate genetic or chromosomal abnormalities. Post-surgical examinations are also part of the diagnostic process.
Depending on the individual's specific condition, the diagnostic process is guided by a specialized healthcare team to help make an accurate diagnosis.
How is encephalocele treated?
Encephalocele treatment usually involves surgical intervention. Surgery aims to place the herniated brain tissue in the skull and close the opening. This procedure is usually performed shortly after birth. If a layer of skin is present to allow the herniated tissue to be inserted, surgery can be scheduled a few months after birth, but if there is no layer of skin, surgery can be performed immediately after birth.
The aim of the surgery is to promote normal cranial development and preserve brain tissue. After surgery, the individual's general health and the normal growth of the skull are regularly monitored. Long-term follow-up and supportive therapies are determined depending on the age of the individual, the type of encephalocele and the complexity of the surgical intervention.
Supportive therapies such as physiotherapy, speech therapy and epilepsy management may also be used to improve the individual's motor skills and quality of life. Encephalocele treatment is managed by a multidisciplinary team and tailored to the specific needs of the individual.