Encephalocele is a rare birth defect resulting from the failure of the neural tube to close completely during fetal development. The neural tube is a structure formed during the third and fourth weeks of pregnancy and plays a critical role in forming the brain and spinal cord. Encephalocele means that the brain protrudes through an opening in the skull if this tube fails to close. This condition may occur as a result of the interaction of genetic and environmental factors. Encephalocele is usually diagnosed prenatally by ultrasound or postnatally by physical examination. Its symptoms may vary depending on the location and size of the herniated tissue and the type of brain tissue it contains.
Every encephalocele case can vary, so it is important to consult a specialist in this condition. Encephalocele is a complex birth defect that requires consultation with a health professional for an accurate diagnosis and appropriate treatment.
What Are the Causes of Encephalocele?
The main causes of encephalocele are a complex interaction of genetic, environmental, and hereditary factors. The primary causes effective in the development of this condition are:
Genetic Predisposition: Some cases of encephalocele may occur due to genetic factors. The risk of encephalocele may increase in individuals with a family history of neural tube defects. This condition may occur under the influence of specific genetic mutations or variations.
Environmental Factors: There are some hypotheses suggesting that environmental factors may play a role in the formation of encephalocele. It is thought that factors such as environmental toxins, infections, or radiation to which the mother is exposed during pregnancy may increase the risk of encephalocele. However, there is no definitive information on this subject yet.
Folic Acid Deficiency: Failure to get adequate folic acid intake during pregnancy can 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 pregnancy and in the early stages can reduce the risk of encephalocele.
Hereditary Factors: Some cases of encephalocele may be hereditary. The risk of encephalocele may be higher in individuals with a family history of such a birth defect. However, exactly how hereditary factors exert their effects is still not fully understood.
What Are the Symptoms of Encephalocele?
Encephalocele generally manifests with certain symptoms, and these symptoms can vary depending on the location and size of the herniated tissue and the type of brain tissue it contains. Symptoms may differ from one individual to another, but common symptoms may include:
Hydrocephalus: Encephalocele can obstruct the normal flow of cerebrospinal fluid due to the protrusion of brain tissue. In this case, fluid accumulates in the brain, leading to hydrocephalus. Hydrocephalus manifests with symptoms such as headache, vomiting, and prominence in the eye sockets.
Spastic Paraplegia: In individuals affected by encephalocele, spastic paraplegia may develop in the arms and legs in some cases. This condition is characterized by muscle stiffness, loss of control, and limited movement.
Microcephaly: Encephalocele can affect the normal size of the head due to the protrusion of brain tissue out of the skull. Microcephaly means an unusually small head size.
Ataxia: Encephalocele can affect motor coordination, a condition called ataxia. Difficulties may be experienced in motor movements such as walking and reaching.
Developmental Delay: Encephalocele generally affects an individual's normal development. Delays in language development, physical milestones, and cognitive abilities can be observed.
Intellectual Disability: Encephalocele can cause intellectual disabilities due to the involvement of brain tissue. However, not every individual may have an intellectual disability.
Vision Problems: Encephalocele can affect the optic nerves and lead to vision problems. Eye misalignment, blurred vision, or other eye issues may occur.
Epileptic Seizures: Epileptic seizures can be observed 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 through clinical and imaging methods performed during the prenatal period or after birth. Routine ultrasonography during pregnancy is an important tool in detecting neural tube defects such as encephalocele. If there are suspicious findings on ultrasound, more detailed methods such as fetal magnetic resonance imaging (MRI) can be utilized.
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 also form a part of the diagnostic process.
The diagnostic process is guided by a specialized healthcare team depending on the individual's specific situation and helps establish an accurate diagnosis.
How Is Encephalocele Treated?
Treatment for encephalocele generally involves surgical intervention. Surgery aims to place the herniated brain tissue back into 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 placed inside, the surgery can be planned a few months after birth; however, if there is no skin layer, the surgery can be performed immediately after birth.
The purpose of surgical intervention is to support normal skull development and protect the brain tissue. Following surgery, the individual's general health and normal skull growth are monitored regularly. Long-term follow-up and supportive treatments are determined based on the individual's age, the type of encephalocele, and the complexity of the surgical intervention.
Supportive treatments such as physical therapy, speech therapy, and epilepsy management can also be applied to improve the individual's motor skills and enhance quality of life. Encephalocele treatment is managed by a multidisciplinary team and tailored to the specific needs of the individual.